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 KRT3 3850 broad.mit.edu 37 12 53189282 53189282 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:53189282G>A ENST00000417996.2 - 1 619 c.545C>T c.(544-546)cCc>cTc p.P182L KRT3_ENST00000309505.3_Missense_Mutation_p.P182L NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 182 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CACATTGAGGGGCTGCAGGAG 0.562000 10 27 0 0 0.00010058 0 0 OR4K1 79544 broad.mit.edu 37 14 20404440 20404440 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:20404440G>A ENST00000285600.4 + 1 674 c.615G>A c.(613-615)ctG>ctA p.L205L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ACAGTGGCCTGATATCATTGA 0.438000 15 41 0 0 0.000566183 0 0 CYP2C18 1562 broad.mit.edu 37 10 96466712 96466712 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:96466712G>A ENST00000285979.6 + 5 1013 c.814G>A c.(814-816)Gaa>Aaa p.E272K CYP2C18_ENST00000339022.5_Intron|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GATCAAAATGGAACAGGTAAA 0.348000 9 32 0 0 0.00010058 0 0 FAM171B 165215 broad.mit.edu 37 2 187627263 187627263 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:187627263C>T ENST00000304698.5 + 8 2397 c.2194C>T c.(2194-2196)Cag>Tag p.Q732* NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 732 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 AAGCATGCATCAGCCCAAGAT 0.483000 32 78 0 0 0.000132358 0 0 C1orf173 127254 broad.mit.edu 37 1 75037652 75037652 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:75037652G>A ENST00000326665.5 - 14 3960 c.3742C>T c.(3742-3744)Cac>Tac p.H1248Y C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1248 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CAGGAGTCGTGATCTTTGGCT 0.602000 12 36 0 0 0.000308642 0 0 CD34 947 broad.mit.edu 37 1 208062929 208062929 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:208062929C>T ENST00000356522.4 - 5 956 c.635G>A c.(634-636)cGa>cAa p.R212Q CD34_ENST00000367036.3_Missense_Mutation_p.R54Q|CD34_ENST00000310833.7_Missense_Mutation_p.R212Q|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R77Q NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 212 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 ACACAGCACTCGGGCCAGGCC 0.582000 18 39 0 0 0.000132079 0 0 ARNT 405 broad.mit.edu 37 1 150812123 150812123 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:150812123G>A ENST00000358595.5 - 6 480 c.280C>T c.(280-282)Cac>Tac p.H94Y ARNT_ENST00000505755.1_Missense_Mutation_p.H79Y|ARNT_ENST00000515192.1_Missense_Mutation_p.H85Y|ARNT_ENST00000354396.2_Missense_Mutation_p.H94Y NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 94 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) ATTTCACTGTGATTTTCCCTG 0.498000 T ETV6 AML 5 12 0 0 0.000602214 0 0 ITLN2 142683 broad.mit.edu 37 1 160920977 160920977 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:160920977C>T ENST00000368029.3 - 4 354 c.297G>A c.(295-297)gaG>gaA p.E99E NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 99 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCATGTCATTCTCGTGCACGC 0.582000 8 26 0 0 0.000274275 0 0 MYH4 4622 broad.mit.edu 37 17 10358061 10358061 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:10358061C>T ENST00000255381.2 - 22 2612 c.2502G>A c.(2500-2502)atG>atA p.M834I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 834 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AATACAGCTTCATCCAGGGCC 0.438000 19 69 0 0 0.000132079 0 0 LHCGR 3973 broad.mit.edu 37 2 48958405 48958405 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:48958405G>A ENST00000294954.7 - 2 215 c.194C>T c.(193-195)cCa>cTa p.P65L LHCGR_ENST00000403273.1_Missense_Mutation_p.P65L|LHCGR_ENST00000401907.1_Missense_Mutation_p.P65L|LHCGR_ENST00000344775.3_Missense_Mutation_p.P65L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.P65L NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 65 LRRNT. male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AGCTTGAGATGGGATCACTTT 0.328000 30 92 0 0 0.000319135 0 0 TRRAP 8295 broad.mit.edu 37 7 98559084 98559084 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:98559084C>T ENST00000359863.4 + 45 6878 c.6669C>T c.(6667-6669)ttC>ttT p.F2223F TRRAP_ENST00000446306.3_Silent_p.F2204F|TRRAP_ENST00000355540.3_Silent_p.F2205F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2223 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGAGCATTTTCCCAACAGAGC 0.547000 26 41 0 0 9.22233e-05 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153312870 153312870 + Missense_Mutation SNP C C T rs148847664 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:153312870C>T ENST00000368739.3 - 7 1157 c.799G>A c.(799-801)Gac>Aac p.D267N PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D271N Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 271 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.D271N(1) breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TAACCAATGTCGCATGACTTG 0.502000 13 53 0 0 0.000422831 0 0 ME2 4200 broad.mit.edu 37 18 48447032 48447032 + Splice_Site SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr18:48447032G>T ENST00000321341.5 + 9 1118 c.844_splice c.e9-1 p.G282_splice ME2_ENST00000382927.3_Splice_Site_p.G282_splice NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 282 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TTCTTACAGGGACAGCTGCAG 0.348000 18 58 9.16793e-09 1.86598e-07 0.000566183 1 0 CATSPER2 117155 broad.mit.edu 37 15 43928403 43928403 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:43928403G>A ENST00000396879.1 - 9 969 c.857C>T c.(856-858)tCc>tTc p.S286F STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.S286F|CATSPER2_ENST00000381761.1_Missense_Mutation_p.S292F|CATSPER2_ENST00000355438.2_Missense_Mutation_p.S286F|CATSPER2_ENST00000321596.5_Missense_Mutation_p.S286F Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 286 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGTTACCAGGGAATTCGGGAG 0.423000 13 53 0 0 9.7654e-05 0 0 NLRP14 338323 broad.mit.edu 37 11 7064319 7064319 + Silent SNP T T C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:7064319T>C ENST00000299481.4 + 4 1408 c.1062T>C c.(1060-1062)agT>agC p.S354S NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 354 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AAGTATTCAGTTCACTAAAAA 0.443000 18 81 0 0 9.7654e-05 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813599 24813599 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:24813599C>T ENST00000376451.2 + 8 2113 c.1853C>T c.(1852-1854)tCc>tTc p.S618F KIAA1217_ENST00000396446.1_Missense_Mutation_p.S618F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S855F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S900F|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S618F|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S935F|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S900F|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S618F Q5T5P2 SKT_HUMAN KIAA1217 935 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GCTCCGCAGTCCCCACAGATA 0.577000 5 34 0 0 3.59834e-05 0 0 ACTN2 88 broad.mit.edu 37 1 236912437 236912437 + Missense_Mutation SNP T T C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:236912437T>C ENST00000366578.4 + 14 1695 c.1529T>C c.(1528-1530)tTg>tCg p.L510S ACTN2_ENST00000546208.1_Missense_Mutation_p.L4S|ACTN2_ENST00000542672.1_Missense_Mutation_p.L510S NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 510 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) ATGGAGAAATTGCTAGAAACC 0.398000 11 42 0 0 0.000151284 0 0 SEC24D 9871 broad.mit.edu 37 4 119736203 119736203 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr4:119736203G>A ENST00000379735.5 - 6 1055 c.784C>T c.(784-786)Cct>Tct p.P262S SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P261S NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 261 Pro-rich. 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 zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 ATAGAGTCAGGATCCAGCTTC 0.522000 30 60 0 0 0.000437636 0 0 ATAD5 79915 broad.mit.edu 37 17 29220966 29220966 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:29220966G>A ENST00000321990.4 + 21 5473 c.5095G>A c.(5095-5097)Gga>Aga p.G1699R NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1699 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAGTAATGATGGATGGACTTC 0.378000 35 71 0 0 0.000191422 0 0 PALM2 114299 broad.mit.edu 37 9 112686019 112686019 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:112686019G>A ENST00000448454.2 + 5 268 c.268G>A c.(268-270)Gag>Aag p.E90K PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E88K|PALM2_ENST00000374531.2_Missense_Mutation_p.E90K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E88K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E88K|PALM2_ENST00000483909.1_Missense_Mutation_p.E88K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E88K|PALM2_ENST00000314527.4_Missense_Mutation_p.E88K paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 TTCCAGGCTGGAGCAAGAAAT 0.443000 5 4 0 0 3.59834e-05 0 0 USP17L2 377630 broad.mit.edu 37 8 11994741 11994741 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:11994741C>T ENST00000333796.3 - 1 1845 c.1529G>A c.(1528-1530)gGg>gAg p.G510E FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 510 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CCTGGTCCTCCCTTGCAGAGA 0.552000 12 57 0 0 0.00010058 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 58 110 0 0 0.000147903 0 0 PSG9 5678 broad.mit.edu 37 19 43763094 43763094 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:43763094C>T ENST00000418820.2 - 3 722 c.624G>A c.(622-624)acG>acA p.T208T PSG9_ENST00000270077.3_Silent_p.T301T|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Silent_p.T208T|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 208 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TTTCATTTCTCGTGACACTGG 0.488000 35 134 0 0 0.000374591 0 0 NEDD4 4734 broad.mit.edu 37 15 56155176 56155176 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:56155176G>A ENST00000508342.1 - 5 2165 c.1866C>T c.(1864-1866)atC>atT p.I622I NEDD4_ENST00000435532.3_Silent_p.I203I|NEDD4_ENST00000338963.2_Silent_p.I550I|NEDD4_ENST00000506154.1_Silent_p.I606I P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 622 Mediates interaction with TNIK (By similarity).|WW 1. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TCCTTCCAAGGATATCCTGCC 0.463000 25 87 0 0 9.22233e-05 0 0 PDGFRA 5156 broad.mit.edu 37 4 55136799 55136799 + Splice_Site SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr4:55136799G>A ENST00000257290.5 + 8 1452 c.e8-1 FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TTTTTTAAAAGGTATCGAAGC 0.308000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 18 78 0 0 9.7654e-05 0 0 KCNK3 3777 broad.mit.edu 37 2 26950541 26950541 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:26950541G>A ENST00000302909.3 + 2 415 c.290G>A c.(289-291)gGg>gAg p.G97E NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 97 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGGCTACGGGCACGCGGCA 0.627000 39 168 0 0 0.000147903 0 0 MATR3 9782 broad.mit.edu 37 5 138658193 138658193 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:138658193C>T ENST00000394800.2 + 15 2325 c.1776C>T c.(1774-1776)tcC>tcT p.S592S MATR3_ENST00000502499.1_Silent_p.S254S|MATR3_ENST00000361059.2_Silent_p.S592S|MATR3_ENST00000510056.1_Silent_p.S592S|MATR3_ENST00000502929.1_Silent_p.S592S|MATR3_ENST00000503811.1_Silent_p.S304S|MATR3_ENST00000504203.1_Silent_p.S254S|MATR3_ENST00000509990.1_Silent_p.S592S|MATR3_ENST00000394805.3_Silent_p.S592S P43243 MATR3_HUMAN matrin 3 592 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAGATAAATCCCGGTAATTTC 0.299000 8 23 0 0 0.000274275 0 0 MRPL54 116541 broad.mit.edu 37 19 3762778 3762778 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:3762778C>T ENST00000330133.4 + 1 117 c.80C>T c.(79-81)tCc>tTc p.S27F NM_172251.2 NP_758455.1 Q6P161 RM54_HUMAN mitochondrial ribosomal protein L54 27 mitochondrion|ribosome breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGCCACTTCCGGAAGACTC 0.622000 16 50 0 0 0.000175454 0 0 RNF112 7732 broad.mit.edu 37 17 19315892 19315892 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:19315892C>T ENST00000461366.1 + 3 392 c.177C>T c.(175-177)atC>atT p.I59I RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 59 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CCTGCTCCATCTGCCTGGAGA 0.657000 7 13 0 0 0.000157383 0 0 PPFIA2 8499 broad.mit.edu 37 12 81693152 81693152 + Silent SNP A A C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:81693152A>C ENST00000550584.2 - 22 2947 c.2652T>G c.(2650-2652)ctT>ctG p.L884L RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Silent_p.L884L|PPFIA2_ENST00000541017.1_Silent_p.L101L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Silent_p.L785L|PPFIA2_ENST00000333447.7_Silent_p.L869L|PPFIA2_ENST00000552948.1_Silent_p.L884L|PPFIA2_ENST00000407050.4_Silent_p.L810L|PPFIA2_ENST00000549325.1_Silent_p.L869L|PPFIA2_ENST00000549396.1_Silent_p.L884L|PPFIA2_ENST00000550359.2_Silent_p.L731L|PPFIA2_ENST00000541570.2_Silent_p.L451L NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 810 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 CTTCTTCAAGAAGTTCATGCC 0.388000 3 8 0 0 0.00024832 0 0 SLC7A2 6542 broad.mit.edu 37 8 17412158 17412158 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:17412158C>T ENST00000494857.1 + 8 1363 c.1145C>T c.(1144-1146)tCc>tTc p.S382F SLC7A2_ENST00000004531.10_Missense_Mutation_p.S422F|SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S382F NM_001008539.3 NP_001008539.3 P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 382 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CAAATCAATTCCAAAACGAAG 0.413000 36 112 0 0 0.000191422 0 0 ZNF883 169834 broad.mit.edu 37 9 115760080 115760080 + RNA SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:115760080C>T ENST00000427548.1 - 0 1733 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TCAGTACATTCATATGGTTTC 0.403000 20 32 0 0 9.7654e-05 0 0 XIRP2 129446 broad.mit.edu 37 2 168105217 168105217 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:168105217G>A ENST00000409195.1 + 9 7404 c.7315G>A c.(7315-7317)Gat>Aat p.D2439N XIRP2_ENST00000409273.1_Missense_Mutation_p.D2217N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2439N|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2264 actin cytoskeleton organization cell junction actin binding p.D2439N(1) 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 TAATAAGAACGATTTTTCCCC 0.408000 44 128 0 0 0.000147903 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925428 114925428 + Silent SNP C C T rs61724286 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:114925428C>T ENST00000355995.4 + 15 2064 c.1557C>T c.(1555-1557)tcC>tcT p.S519S TCF7L2_ENST00000542695.1_Silent_p.S235S|TCF7L2_ENST00000536810.1_Silent_p.S502S|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.S502S|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.S496S|TCF7L2_ENST00000545257.1_Silent_p.S519S|TCF7L2_ENST00000466338.1_3'UTR Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 519 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) TGCTAGGCTCCCCTCCCCGAG 0.632000 T VTI1A colorectal 45 180 0 0 0.000147903 0 0 ABCA13 154664 broad.mit.edu 37 7 48315712 48315712 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:48315712C>T ENST00000435803.1 + 17 6473 c.6449C>T c.(6448-6450)aCc>aTc p.T2150I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2150 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 ATTCCTGTGACCAATGAGAGT 0.333000 7 14 0 0 8.12818e-05 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798785 55798785 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:55798785G>A ENST00000313555.1 + 1 891 c.891G>A c.(889-891)gtG>gtA p.V297V NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) ACAAGGATGTGAAAAATGCTC 0.313000 16 54 0 0 0.000308642 0 0 SPEG 10290 broad.mit.edu 37 2 220337666 220337666 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:220337666G>A ENST00000312358.7 + 16 4127 c.3995G>A c.(3994-3996)tGg>tAg p.W1332* SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1332 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) TCGGACCAGTGGACGGCACTG 0.647000 17 13 0 0 7.07596e-05 0 0 POU1F1 5449 broad.mit.edu 37 3 87322529 87322529 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:87322529C>T ENST00000350375.2 - 2 306 c.182G>A c.(181-183)gGa>gAa p.G61E POU1F1_ENST00000344265.3_Missense_Mutation_p.G87E|POU1F1_ENST00000560656.1_Missense_Mutation_p.G61E NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 61 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) TGGCTGGTTTCCATAATGACA 0.408000 10 40 0 0 0.00010058 0 0 OR4E2 26686 broad.mit.edu 37 14 22133973 22133973 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:22133973G>A ENST00000408935.1 + 1 677 c.677G>A c.(676-678)cGa>cAa p.R226Q NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GTTTCTCTTCGAAAACACTCA 0.502000 18 49 0 0 0.000229342 0 0 WDR12 55759 broad.mit.edu 37 2 203762100 203762100 + Missense_Mutation SNP C C A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:203762100C>A ENST00000261015.3 - 5 1126 c.377G>T c.(376-378)tGg>tTg p.W126L NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 126 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TTCCAAGGACCAGATCCGAGA 0.378000 15 602 9.7654e-05 0.00195251 9.7654e-05 1 0 FAM135B 51059 broad.mit.edu 37 8 139164357 139164357 + Missense_Mutation SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:139164357G>T ENST00000395297.1 - 13 2531 c.2361C>A c.(2359-2361)gaC>gaA p.D787E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 787 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) GCTGCTTGGTGTCCGCATCTT 0.517000 HNSCC(54;0.14) 7 31 1.12685e-05 0.00022731 0.000274275 1 0 NLRP5 126206 broad.mit.edu 37 19 56539572 56539572 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:56539572C>T ENST00000390649.3 + 7 1973 c.1973C>T c.(1972-1974)cCc>cTc p.P658L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 658 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTCCCGTTCCCCTGGGGGTG 0.587000 19 49 0 0 0.000132079 0 0 GPC5 2262 broad.mit.edu 37 13 92408650 92408650 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr13:92408650G>A ENST00000377067.3 + 5 1628 c.1256G>A c.(1255-1257)tGg>tAg p.W419* GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 419 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CTTCCCTGCTGGAATGGAGAA 0.388000 19 60 0 0 0.000295444 0 0 PARD3B 117583 broad.mit.edu 37 2 205986545 205986545 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:205986545C>T ENST00000406610.2 + 8 1244 c.1037C>T c.(1036-1038)tCc>tTc p.S346F PARD3B_ENST00000349953.3_Missense_Mutation_p.S346F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S346F|PARD3B_ENST00000351153.1_Missense_Mutation_p.S346F|PARD3B_ENST00000358768.2_Missense_Mutation_p.S346F NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 346 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCATCAGCTTCCCTGCAACAA 0.488000 11 38 0 0 3.86212e-05 0 0 SCN3A 6328 broad.mit.edu 37 2 165946963 165946963 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:165946963C>T ENST00000360093.3 - 28 6191 c.5700G>A c.(5698-5700)gaG>gaA p.E1900E SCN3A_ENST00000540861.1_Silent_p.E383E|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Silent_p.E1851E|SCN3A_ENST00000283254.7_Silent_p.E1900E NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1900 IQ. voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CAGACACCTCCTCTTGTTTAC 0.373000 20 55 0 0 0.000117367 0 0 SLC1A6 6511 broad.mit.edu 37 19 15075164 15075164 + Silent SNP A A G TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:15075164A>G ENST00000598504.1 - 7 1917 c.558T>C c.(556-558)ttT>ttC p.F186F SLC1A6_ENST00000221742.3_Silent_p.F186F|SLC1A6_ENST00000600144.1_Silent_p.F186F|SLC1A6_ENST00000544886.2_Silent_p.F186F|SLC1A6_ENST00000430939.2_Silent_p.F122F NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 186 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GGTTTGGTGGAAACATATTTC 0.463000 69 189 0 0 0.000147903 0 0 ANKRD22 118932 broad.mit.edu 37 10 90583082 90583082 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:90583082G>A ENST00000371930.4 - 5 663 c.453C>T c.(451-453)atC>atT p.I151I ANKRD22_ENST00000476963.1_5'UTR NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 151 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) AGAGCAGAGGGATAAGAGACT 0.488000 46 112 0 0 0.000147903 0 0 APOH 350 broad.mit.edu 37 17 64225468 64225468 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:64225468C>T ENST00000205948.6 - 1 67 c.30G>A c.(28-30)tcG>tcA p.S10S NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 10 blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) AGAGAAAACTCGAGAACAAGA 0.398000 4 15 0 0 0.000602214 0 0 ALPK2 115701 broad.mit.edu 37 18 56203356 56203356 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr18:56203356C>T ENST00000361673.3 - 5 4276 c.4063G>A c.(4063-4065)Gat>Aat p.D1355N RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1355 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GACAGTGAATCTGTGACAGAT 0.473000 14 48 0 0 0.000308642 0 0 SHPK 23729 broad.mit.edu 37 17 3539424 3539424 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:3539424G>A ENST00000225519.3 - 1 192 c.90C>T c.(88-90)tcC>tcT p.S30S NM_013276.2 NP_037408.2 Q9UHJ6 SHPK_HUMAN sedoheptulokinase 30 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) CTGCGAACCCGGATGGGTCGT 0.716000 5 17 0 0 0.000602214 0 0 POTEC 388468 broad.mit.edu 37 18 14533112 14533112 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr18:14533112C>T ENST00000358970.5 - 5 1002 c.1003G>A c.(1003-1005)Gat>Aat p.D335N POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 335 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CCAGATAGATCTTGAGAAGAT 0.373000 43 134 0 0 0.000147903 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413031 105413031 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:105413031C>T ENST00000333244.5 - 7 8876 c.8757G>A c.(8755-8757)aaG>aaA p.K2919K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2919 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTTGGGGCCCTTGACGTCTA 0.652000 58 164 0 0 0.000147903 0 0 SZT2 23334 broad.mit.edu 37 1 43896717 43896717 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:43896717C>T ENST00000562955.1 + 32 4701 c.4701C>T c.(4699-4701)ccC>ccT p.P1567P SZT2_ENST00000372442.1_Silent_p.P725P NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1624 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 TGACTTTGCCCCTGGAAGTGG 0.617000 5 40 0 0 0.000602214 0 0 IVL 3713 broad.mit.edu 37 1 152882398 152882398 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:152882398C>T ENST00000368764.3 + 2 189 c.125C>T c.(124-126)cCc>cTc p.P42L IVL_ENST00000392667.2_5'UTR P07476 INVO_HUMAN involucrin 42 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCACTGCCTCCCCCATGCCAG 0.552000 16 36 0 0 0.000422831 0 0 CCDC33 80125 broad.mit.edu 37 15 74625065 74625065 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:74625065G>A ENST00000321288.5 + 18 2426 c.2426G>A c.(2425-2427)gGa>gAa p.G809E CCDC33_ENST00000558821.1_Missense_Mutation_p.G199E|CCDC33_ENST00000398814.3_Missense_Mutation_p.G606E|CCDC33_ENST00000268082.4_Missense_Mutation_p.G199E Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 809 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGTTCTATGGGAGAGAACCTG 0.582000 38 97 0 0 0.000147903 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457323 110457323 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:110457323C>T ENST00000378402.5 + 38 5329 c.5225C>T c.(5224-5226)tCa>tTa p.S1742L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1742 IPT/TIG 9. 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) TGCACCTTTTCATACTTAGAA 0.448000 HNSCC(38;0.096) 30 89 0 0 0.000227799 0 0 SYT16 83851 broad.mit.edu 37 14 62567122 62567122 + Silent SNP A A G TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:62567122A>G ENST00000430451.2 + 6 1832 c.1635A>G c.(1633-1635)ggA>ggG p.G545G NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 545 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ATACATATGGAAAACTCTTTC 0.433000 4 12 0 0 0.000602214 0 0 PAH 5053 broad.mit.edu 37 12 103310870 103310870 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:103310870C>T ENST00000553106.1 - 1 511 c.39G>A c.(37-39)agG>agA p.R13R PAH_ENST00000307000.2_5'UTR|PAH_ENST00000551988.1_5'UTR NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 13 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CAGAGAGTTTCCTGCCCAAGC 0.572000 8 51 0 0 3.86212e-05 0 0 MKI67 4288 broad.mit.edu 37 10 129901698 129901698 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:129901698G>A ENST00000368654.3 - 13 8781 c.8406C>T c.(8404-8406)ggC>ggT p.G2802G MKI67_ENST00000368653.3_Silent_p.G2442G NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2802 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGTCTTTGAAGCCAGCTAGGT 0.507000 19 54 0 0 7.07596e-05 0 0 DNAH9 1770 broad.mit.edu 37 17 11726147 11726147 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:11726147C>T ENST00000262442.3 + 48 9110 c.9042C>T c.(9040-9042)ttC>ttT p.F3014F DNAH9_ENST00000454412.2_Silent_p.F3014F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3014 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTAGCAAATTCATGGCCTTTG 0.433000 25 75 0 0 9.22233e-05 0 0 FAM129A 116496 broad.mit.edu 37 1 184801002 184801002 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:184801002C>T ENST00000367511.3 - 6 889 c.696G>A c.(694-696)atG>atA p.M232I FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 232 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CCCCAGTGATCATTTCCCAGG 0.408000 20 76 0 0 0.000175454 0 0 PGS1 9489 broad.mit.edu 37 17 76396844 76396844 + Missense_Mutation SNP C C T rs79039614 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:76396844C>T ENST00000262764.6 + 6 814 c.788C>T c.(787-789)aCg>aTg p.T263M PGS1_ENST00000329897.7_Missense_Mutation_p.T128M|PGS1_ENST00000588281.1_3'UTR NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 263 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) GACTTCTTCACGGAGCTGGTG 0.607000 26 46 0 0 0.000184323 0 0 C1orf173 127254 broad.mit.edu 37 1 75101970 75101970 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:75101970G>A ENST00000326665.5 - 6 815 c.597C>T c.(595-597)ccC>ccT p.P199P NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 199 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTACCCCAATGGGAAACAGAG 0.323000 26 72 0 0 0.00047179 0 0 AQP9 366 broad.mit.edu 37 15 58465319 58465319 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:58465319G>A ENST00000219919.4 + 3 661 c.291G>A c.(289-291)atG>atA p.M97I AQP9_ENST00000536493.1_Missense_Mutation_p.M97I|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.M32I NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 97 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TTGGACGGATGAAATGGTTCA 0.478000 65 196 0 0 0.000147903 0 0 AQP9 366 broad.mit.edu 37 15 58430858 58430858 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:58430858G>A ENST00000219919.4 + 1 464 c.94G>A c.(94-96)Ggc>Agc p.G32S AQP9_ENST00000536493.1_Missense_Mutation_p.G32S|AQP9_ENST00000559443.1_3'UTR|AQP9_ENST00000558772.1_Intron|ALDH1A2_ENST00000558231.1_Intron NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 32 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TGAGTTCTTGGGCACGTTCAT 0.473000 25 80 0 0 0.000339439 0 0 PSEN1 5663 broad.mit.edu 37 14 73653628 73653628 + Splice_Site SNP G G T rs63751068 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:73653628G>T ENST00000324501.5 + 6 820 c.548_splice c.e6+1 p.G183_splice PSEN1_ENST00000357710.4_Splice_Site_p.G179_splice|PSEN1_ENST00000344094.3_Splice_Site_p.G183_splice|PSEN1_ENST00000406768.1_Splice_Site_p.G91_splice|PSEN1_ENST00000394164.1_Splice_Site_p.G179_splice|PSEN1_ENST00000557511.1_Splice_Site_p.G183_splice|PSEN1_ENST00000261970.3_Splice_Site_p.G183_splice NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 183 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) ATTTACTTGGGGTAAGTTGTG 0.323000 7 103 0.000274275 0.00543593 0.000274275 1 0 KIAA1524 57650 broad.mit.edu 37 3 108281983 108281983 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:108281983G>A ENST00000295746.8 - 13 1700 c.1624C>T c.(1624-1626)Cct>Tct p.P542S KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.P383S NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 542 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACTAAAGCAGGAAAATCTGGC 0.393000 36 97 0 0 0.000132358 0 0 CHD1L 9557 broad.mit.edu 37 1 146740470 146740470 + Missense_Mutation SNP G G T rs140168816 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:146740470G>T ENST00000369258.4 + 10 1038 c.1018G>T c.(1018-1020)Gac>Tac p.D340Y CHD1L_ENST00000361293.5_Missense_Mutation_p.D59Y|CHD1L_ENST00000369259.3_Missense_Mutation_p.D136Y|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Intron NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 340 chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) TGAAGTTGGAGACCACCTGAC 0.517000 17 56 7.87624e-14 1.62744e-12 0.000375601 1 0 PEAK1 79834 broad.mit.edu 37 15 77407410 77407410 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:77407410G>A ENST00000560626.2 - 7 4804 c.4329C>T c.(4327-4329)tcC>tcT p.S1443S PEAK1_ENST00000312493.4_Silent_p.S1443S Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1443 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TCTCTTTCTGGGATGATGCTG 0.498000 33 80 0 0 0.000191422 0 0 DSP 1832 broad.mit.edu 37 6 7584611 7584611 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr6:7584611C>T ENST00000379802.3 + 24 7457 c.7116C>T c.(7114-7116)atC>atT p.I2372I DSP_ENST00000418664.2_Silent_p.I1773I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2372 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGCACAGATCGCAACCGGGG 0.438000 29 51 0 0 0.00058488 0 0 TARBP1 6894 broad.mit.edu 37 1 234541779 234541779 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:234541779G>A ENST00000040877.1 - 24 3858 c.3859C>T c.(3859-3861)Cga>Tga p.R1287* TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1287 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GCATACAGTCGAACACTAAAA 0.383000 27 72 0 0 0.000279167 0 0 ELMO2 63916 broad.mit.edu 37 20 45017738 45017738 + Missense_Mutation SNP T T C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:45017738T>C ENST00000372176.1 - 7 569 c.101A>G c.(100-102)aAc>aGc p.N34S ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.N122S|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.N122S|ELMO2_ENST00000439931.2_Missense_Mutation_p.N122S|ELMO2_ENST00000290246.6_Missense_Mutation_p.N122S Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 122 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) GCCATCCATGTTGATGAACTC 0.527000 13 35 0 0 0.00010058 0 0 NBEAL1 65065 broad.mit.edu 37 2 204045122 204045122 + Missense_Mutation SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:204045122G>T ENST00000449802.1 + 42 6728 c.6395G>T c.(6394-6396)cGa>cTa p.R2132L NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2132 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGTGCAGATCGACAGTTCCAT 0.343000 8 483 3.86212e-05 0.000774475 3.86212e-05 1 0 DENND2A 27147 broad.mit.edu 37 7 140221655 140221655 + Splice_Site SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:140221655C>T ENST00000275884.6 - 17 3328 c.2911_splice c.e17+1 p.G971_splice DENND2A_ENST00000496613.1_Splice_Site_p.G971_splice|DENND2A_ENST00000537639.1_Splice_Site_p.G971_splice Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 971 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TGCCCCTCACCTTTGGCATCC 0.597000 20 58 0 0 0.000375601 0 0 ZNF831 128611 broad.mit.edu 37 20 57766946 57766946 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:57766946C>T ENST00000371030.2 + 1 872 c.872C>T c.(871-873)cCa>cTa p.P291L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 291 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCTGGGCTCCCAGCGGCCAGC 0.677000 14 56 0 0 0.000308642 0 0 PRR15L 79170 broad.mit.edu 37 17 46030312 46030312 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:46030312C>T ENST00000300557.2 - 2 539 c.289G>A c.(289-291)Gag>Aag p.E97K RP11-6N17.9_ENST00000582262.1_RNA NM_024320.3 NP_077296.1 Q9BU68 PR15L_HUMAN proline rich 15-like 97 NS(1)|cervix(1)|ovary(1)|pancreas(1) 4 CGTCCTTCCTCGTGATCATCA 0.557000 17 52 0 0 0.000175454 0 0 ANO4 121601 broad.mit.edu 37 12 101505378 101505378 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:101505378C>T ENST00000392979.3 + 23 2596 c.2235C>T c.(2233-2235)ctC>ctT p.L745L ANO4_ENST00000392977.3_Silent_p.L780L|ANO4_ENST00000299222.9_Silent_p.L300L|ANO4_ENST00000550015.1_Silent_p.L300L NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 780 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 TTGGAATTCTCTCTGTTATCA 0.368000 HNSCC(74;0.22) 21 51 0 0 0.000295444 0 0 NXF3 56000 broad.mit.edu 37 X 102338384 102338384 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chrX:102338384C>T ENST00000395065.3 - 5 583 c.482G>A c.(481-483)aGc>aAc p.S161N NXF3_ENST00000425463.2_Missense_Mutation_p.S72N|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 161 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 ATAGGCGATGCTGGCATTCTC 0.448000 21 24 0 0 0.000586117 0 0 ASXL3 80816 broad.mit.edu 37 18 31323374 31323374 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr18:31323374C>T ENST00000269197.5 + 12 3562 c.3562C>T c.(3562-3564)Cca>Tca p.P1188S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1188 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 GTCTCTTAACCCAAGTAAACT 0.428000 8 26 0 0 0.000274275 0 0 MPP7 143098 broad.mit.edu 37 10 28414002 28414002 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:28414002C>T ENST00000337532.5 - 8 742 c.466G>A c.(466-468)Gat>Aat p.D156N MPP7_ENST00000445954.2_Missense_Mutation_p.D31N|MPP7_ENST00000540098.1_Missense_Mutation_p.D156N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375732.1_Missense_Mutation_p.D156N|MPP7_ENST00000375719.3_Missense_Mutation_p.D156N NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 156 PDZ. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 GTCTGTTCATCCTTCTTAATG 0.403000 13 54 0 0 0.000422831 0 0 GALNT13 114805 broad.mit.edu 37 2 155157940 155157940 + Missense_Mutation SNP T T A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:155157940T>A ENST00000392825.3 + 9 1561 c.994T>A c.(994-996)Tcc>Acc p.S332T GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.S332T NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 332 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 ATGTGGAGGCTCCTTGGAGAT 0.408000 41 173 0 0 0.000147903 0 0 P2RY2 5029 broad.mit.edu 37 11 72945289 72945289 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:72945289G>A ENST00000311131.2 + 3 552 c.85G>A c.(85-87)Gag>Aag p.E29K P2RY2_ENST00000393596.2_Missense_Mutation_p.E29K|P2RY2_ENST00000393597.2_Missense_Mutation_p.E29K NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 29 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CCGCTTCAACGAGGACTTCAA 0.622000 22 104 0 0 0.000175454 0 0 POLD1 5424 broad.mit.edu 37 19 50912866 50912866 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:50912866C>T ENST00000440232.2 + 17 2150 c.2097C>T c.(2095-2097)tcC>tcT p.S699S POLD1_ENST00000599857.1_Silent_p.S699S|POLD1_ENST00000595904.1_Silent_p.S725S NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 699 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GCGCCAACTCCGTATACGGCT 0.687000 DNA polymerases (catalytic subunits) 29 76 0 0 0.000339439 0 0 CDH9 1007 broad.mit.edu 37 5 26915795 26915795 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:26915795C>T ENST00000231021.4 - 3 638 c.466G>A c.(466-468)Gag>Aag p.E156K NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 156 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AATTTTGGCTCATTGTCATTG 0.373000 36 84 0 0 0.000191422 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39448129 39448129 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr22:39448129C>T ENST00000308521.5 + 6 1131 c.774C>T c.(772-774)ttC>ttT p.F258F APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 266 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) TCTCTTGGTTCTGTGACGACA 0.572000 41 102 0 0 0.000147903 0 0 FBXO38 81545 broad.mit.edu 37 5 147796734 147796734 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:147796734C>T ENST00000340253.5 + 12 1753 c.1585C>T c.(1585-1587)Ctg>Ttg p.L529L FBXO38_ENST00000296701.6_Silent_p.L529L|FBXO38_ENST00000513826.1_Silent_p.L529L|FBXO38_ENST00000394370.3_Silent_p.L529L Q6PIJ6 FBX38_HUMAN F-box protein 38 529 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGCAAGATCTGCAGCCAGG 0.428000 9 23 0 0 6.40141e-05 0 0 OR4D1 26689 broad.mit.edu 37 17 56232592 56232592 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:56232592C>T ENST00000268912.5 + 1 99 c.78C>T c.(76-78)ttC>ttT p.F26F NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TCCAGAAATTCCTGTTCCTTC 0.478000 40 119 0 0 0.000319135 0 0 PROSER1 80209 broad.mit.edu 37 13 39587605 39587605 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr13:39587605G>A ENST00000352251.3 - 11 2617 c.1784C>T c.(1783-1785)tCa>tTa p.S595L PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S573L NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 595 Ser-rich. AGGGGTAGATGAAATATGCAG 0.542000 40 110 0 0 0.000589545 0 0 ZAK 51776 broad.mit.edu 37 2 174131075 174131075 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:174131075C>T ENST00000375213.3 + 20 2078 c.2000C>T c.(1999-2001)tCt>tTt p.S667F MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S667F|MLK7-AS1_ENST00000423106.2_RNA NM_016653.2 NP_057737.2 ACTGACACCTCTTCAGAGAGG 0.453000 26 63 0 0 0.000117367 0 0 ANTXR1 84168 broad.mit.edu 37 2 69472523 69472523 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:69472523C>T ENST00000303714.4 + 18 1923 c.1601C>T c.(1600-1602)cCg>cTg p.P534L NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 534 Pro-rich. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 cctcccatcccgtccccacct 0.711000 Familial Infantile Hemangioma 9 3 0 0 0.000274275 0 0 SLC12A5 57468 broad.mit.edu 37 20 44674583 44674583 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:44674583G>A ENST00000454036.1 + 13 1781 c.1705G>A c.(1705-1707)Gag>Aag p.E569K SLC12A5_ENST00000243964.3_Missense_Mutation_p.E546K|SLC12A5_ENST00000539566.1_3'UTR NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 569 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) CTGCATCTGCGAGATTGGCAT 0.592000 34 114 0 0 0.000228196 0 0 CBLB 868 broad.mit.edu 37 3 105421149 105421149 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:105421149G>A ENST00000264122.4 - 12 2069 c.1748C>T c.(1747-1749)tCc>tTc p.S583F CBLB_ENST00000394027.3_Missense_Mutation_p.S605F|CBLB_ENST00000405772.1_Missense_Mutation_p.S583F|CBLB_ENST00000403724.1_Missense_Mutation_p.S583F NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 583 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CGGGTCTCTGGAAGGCACGCT 0.542000 Mis S AML 9 39 0 0 0.000274275 0 0 PNPLA6 10908 broad.mit.edu 37 19 7621391 7621391 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:7621391C>T ENST00000221249.6 + 28 3463 c.3032C>T c.(3031-3033)tCc>tTc p.S1011F PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1049F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1059F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S984F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1011F NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 1050 Patatin. cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 CCAGTCACCTCCATGTTCACT 0.567000 52 87 0 0 0.000147903 0 0 DDX52 11056 broad.mit.edu 37 17 35986129 35986129 + Silent SNP T T A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:35986129T>A ENST00000349699.2 - 8 991 c.948A>T c.(946-948)gtA>gtT p.V316V DDX52_ENST00000394367.3_Silent_p.V208V NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 316 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) ATTCGTCTACTACAAGCCACT 0.448000 5 19 0 0 0.000602214 0 0 BCAS3 54828 broad.mit.edu 37 17 58786684 58786684 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:58786684C>T ENST00000589222.1 + 5 387 c.319C>T c.(319-321)Cct>Tct p.P107S BCAS3_ENST00000407086.3_Missense_Mutation_p.P107S|BCAS3_ENST00000588462.1_Missense_Mutation_p.P107S|BCAS3_ENST00000390652.5_Missense_Mutation_p.P107S|BCAS3_ENST00000408905.3_Missense_Mutation_p.P107S Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 107 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CTGGAGCATCCCTGTAAGTAC 0.378000 15 20 0 0 0.000566183 0 0 CSMD2 114784 broad.mit.edu 37 1 34008417 34008417 + Silent SNP G G A rs138523089 byFrequency TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:34008417G>A ENST00000373381.4 - 58 9356 c.9180C>T c.(9178-9180)atC>atT p.I3060I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3034 Sushi 23. 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) ACTCATAGACGATAGAGCTGG 0.542000 13 34 0 0 0.00010058 0 0 F7 2155 broad.mit.edu 37 13 113773099 113773099 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr13:113773099C>T ENST00000375581.3 + 9 1213 c.1178C>T c.(1177-1179)tCg>tTg p.S393L F7_ENST00000346342.3_Missense_Mutation_p.S371L|F7_ENST00000541084.1_Missense_Mutation_p.S324L NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 393 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GCCGGCTACTCGGATGGCAGC 0.632000 8 20 0 0 0.000157383 0 0 SV2B 9899 broad.mit.edu 37 15 91835624 91835624 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:91835624G>A ENST00000394232.1 + 13 2364 c.1894G>A c.(1894-1896)Gga>Aga p.G632R SV2B_ENST00000545111.2_Missense_Mutation_p.G481R|SV2B_ENST00000330276.4_Missense_Mutation_p.G632R NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 632 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) CATTCTCAATGGATTATGCAA 0.448000 113 338 0 0 0.000147903 0 0 OR51A4 401666 broad.mit.edu 37 11 4967488 4967488 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:4967488G>A ENST00000380373.2 - 1 868 c.843C>T c.(841-843)ctC>ctT p.L281L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 281 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) GTACAAGTAGGAGAACATTTG 0.438000 23 139 0 0 0.000586117 0 0 TTN 7273 broad.mit.edu 37 2 179581852 179581852 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:179581852C>T ENST00000589042.1 - 88 25833 c.25609G>A c.(25609-25611)Gac>Aac p.D8537N TTN_ENST00000342992.6_Missense_Mutation_p.D7293N|TTN_ENST00000591111.1_Missense_Mutation_p.D8220N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8220 Ig-like 68. 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) GAACAAGAGTCTTTTCCAGCG 0.448000 13 33 0 0 0.000219431 0 0 TCEAL7 56849 broad.mit.edu 37 X 102586467 102586467 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chrX:102586467G>A ENST00000332431.4 + 3 390 c.136G>A c.(136-138)Gaa>Aaa p.E46K TCEAL7_ENST00000372666.1_Missense_Mutation_p.E46K NM_152278.3 NP_689491.1 Q9BRU2 TCAL7_HUMAN transcription elongation factor A (SII)-like 7 46 negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 tcagtctctcgaagaatttaa 0.438000 16 25 0 0 0.000308642 0 0 ZNF800 168850 broad.mit.edu 37 7 127017364 127017364 + Missense_Mutation SNP A A T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:127017364A>T ENST00000393313.1 - 4 768 c.177T>A c.(175-177)caT>caA p.H59Q ZNF800_ENST00000265827.3_Missense_Mutation_p.H59Q|ZNF800_ENST00000393312.1_Missense_Mutation_p.H59Q Q2TB10 ZN800_HUMAN zinc finger protein 800 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TTAATAAAATATGCTTAAGTT 0.313000 5 45 0 0 3.59834e-05 0 0 FLT1 2321 broad.mit.edu 37 13 28980009 28980009 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr13:28980009C>T ENST00000282397.4 - 11 1710 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K FLT1_ENST00000539099.1_Missense_Mutation_p.E487K|FLT1_ENST00000541932.1_Missense_Mutation_p.E487K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 487 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.E487K(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AAGGACTCTTCATTATTGGAA 0.388000 19 71 0 0 9.7654e-05 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21928267 21928267 + Missense_Mutation SNP T T C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:21928267T>C ENST00000542643.2 - 22 1942 c.1640A>G c.(1639-1641)aAg>aGg p.K547R RAP1GAP_ENST00000374763.2_Missense_Mutation_p.K606R|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.K585R|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.K552R|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.K521R NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 521 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GTCTGGGGTCTTCTGACCAGC 0.667000 8 23 0 0 0.000274275 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40282489 40282489 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:40282489G>A ENST00000263791.5 + 16 2585 c.2542G>A c.(2542-2544)Gat>Aat p.D848N EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D820N NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 848 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GATTCACCGGGATTTGAAGCC 0.378000 43 141 0 0 0.000147903 0 0 KCNK10 54207 broad.mit.edu 37 14 88652268 88652268 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:88652268C>T ENST00000340700.5 - 7 1679 c.1228G>A c.(1228-1230)Gcc>Acc p.A410T KCNK10_ENST00000319231.5_Missense_Mutation_p.A415T|KCNK10_ENST00000312350.5_Missense_Mutation_p.A415T NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 410 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TGGGATGAGGCCTTGAAGCGG 0.662000 16 48 0 0 0.000132079 0 0 HSF1 3297 broad.mit.edu 37 8 145535747 145535747 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:145535747C>T ENST00000528838.1 + 9 1119 c.959C>T c.(958-960)tCc>tTc p.S320F HSF1_ENST00000400780.4_Missense_Mutation_p.S255F NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 320 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CGCCCATCTTCCGTGGACACC 0.706000 14 44 0 0 0.000219431 0 0 VIL1 7429 broad.mit.edu 37 2 219289022 219289022 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:219289022C>T ENST00000248444.5 + 3 186 c.98C>T c.(97-99)cCt>cTt p.P33L VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.P33L NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 33 Core.|Necessary for homodimerization. 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) GTGCCTGTTCCTTCCAGCACC 0.612000 34 90 0 0 0.000437636 0 0 GAS2L2 246176 broad.mit.edu 37 17 34074961 34074961 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:34074961G>A ENST00000254466.6 - 4 766 c.739C>T c.(739-741)Ctc>Ttc p.L247F GAS2L2_ENST00000587565.1_Missense_Mutation_p.L231F NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 247 GAR. cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGTTCCGGAGGATCTGAGGG 0.632000 OREG0024328 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 23 0 0 8.12818e-05 0 0 SLC1A5 6510 broad.mit.edu 37 19 47285682 47285682 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:47285682G>A ENST00000542575.2 - 4 1410 c.782C>T c.(781-783)tCc>tTc p.S261F SLC1A5_ENST00000594991.1_Missense_Mutation_p.S85F|SLC1A5_ENST00000412532.2_Missense_Mutation_p.S33F|SLC1A5_ENST00000434726.2_Missense_Mutation_p.S59F NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 261 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CTCATTGAAGGAGTTGAAGAA 0.597000 17 48 0 0 0.000375601 0 0 TRRAP 8295 broad.mit.edu 37 7 98509802 98509802 + Missense_Mutation SNP C C T rs147405090 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:98509802C>T ENST00000359863.4 + 18 2374 c.2165C>T c.(2164-2166)tCc>tTc p.S722F TRRAP_ENST00000446306.3_Missense_Mutation_p.S721F|TRRAP_ENST00000355540.3_Missense_Mutation_p.S722F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 722 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.S722F(10) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGCTCTGTCTCCCTCTTTGCA 0.463000 28 49 0 0 0.000132358 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054985 4054985 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:4054985G>A ENST00000322357.4 - 2 524 c.246C>T c.(244-246)gcC>gcT p.A82A ZBTB7A_ENST00000601588.1_Silent_p.A82A NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 82 BTB. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGCGCCTCGGCGCTGACGA 0.657000 6 11 0 0 3.59834e-05 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2396587 2396587 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:2396587G>A ENST00000332578.3 + 2 193 c.193G>A c.(193-195)Gga>Aga p.G65R TMPRSS9_ENST00000592650.1_3'UTR NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 65 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGAGCTGCGGGGAATCCGGTG 0.667000 6 9 0 0 0.000157383 0 0 ZNF777 27153 broad.mit.edu 37 7 149129502 149129502 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:149129502G>A ENST00000247930.4 - 6 2184 c.1861C>T c.(1861-1863)Ccc>Tcc p.P621S NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGTGACTTGGGACGCGGCTTG 0.667000 33 100 0 0 0.000270559 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49363627 49363627 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:49363627G>A ENST00000263265.6 - 6 1011 c.456C>T c.(454-456)tcC>tcT p.S152S PLEKHA4_ENST00000355496.5_Silent_p.S152S NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 152 PH. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CCTCCGCACGGGAGGCCCGGC 0.657000 15 77 0 0 0.000566183 0 0 VPS13D 55187 broad.mit.edu 37 1 12374213 12374213 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:12374213C>T ENST00000358136.3 + 30 7107 c.6977C>T c.(6976-6978)tCc>tTc p.S2326F VPS13D_ENST00000356315.4_Missense_Mutation_p.S2326F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2326 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAAAGTTTTTCCAACCAAACC 0.403000 10 45 0 0 6.40141e-05 0 0 SLC9C2 284525 broad.mit.edu 37 1 173490538 173490538 + Splice_Site SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:173490538C>T ENST00000367714.3 - 22 3063 c.2640_splice c.e22-1 p.E881_splice SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 881 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTGGCTCTTTCCTGAGTGGGA 0.318000 9 40 0 0 0.000442599 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58598336 58598336 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:58598336C>T ENST00000240727.6 - 5 1081 c.682G>A c.(682-684)Gag>Aag p.E228K ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E93K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E284K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E228K NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 228 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TGGCCCCACTCCCCCAGGTGC 0.642000 11 33 0 0 3.86212e-05 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754765 94754765 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:94754765G>A ENST00000554723.1 - 3 1388 c.970C>T c.(970-972)Cgt>Tgt p.R324C SERPINA10_ENST00000261994.4_Missense_Mutation_p.R284C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R284C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R284C Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 284 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.R284C(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) ACATGACAACGAAAATTCTTG 0.507000 16 45 0 0 0.000308642 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296076 233296076 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:233296076G>A ENST00000258229.8 - 19 3704 c.3470C>T c.(3469-3471)tCa>tTa p.S1157L PCNXL2_ENST00000488780.2_Missense_Mutation_p.S290L|PCNXL2_ENST00000520463.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1157 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AATGGGGTGTGAAATCCACAT 0.443000 15 42 0 0 0.000422831 0 0 TRBV28 28559 broad.mit.edu 37 7 142428833 142428833 + RNA SNP A A G TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:142428833A>G ENST00000390400.2 + 0 213 GCTACGGCTGATCTATTTCTC 0.438000 6 20 0 0 0.000157383 0 0 CASS4 57091 broad.mit.edu 37 20 55027409 55027409 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:55027409C>T ENST00000371336.3 + 5 1378 c.1177C>T c.(1177-1179)Cct>Tct p.P393S CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P393S NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 393 Ser-rich. 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 TTCCCCATCTCCTGAACCGGA 0.547000 10 31 0 0 6.40141e-05 0 0 TRPM4 54795 broad.mit.edu 37 19 49671814 49671814 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:49671814C>T ENST00000252826.5 + 6 743 c.617C>T c.(616-618)tCg>tTg p.S206L TRPM4_ENST00000427978.2_Missense_Mutation_p.S206L|TRPM4_ENST00000355712.5_5'UTR NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 206 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCCTAGGGCTCGTTCCCTGCG 0.647000 16 34 0 0 0.000132079 0 0 GYS2 2998 broad.mit.edu 37 12 21699368 21699368 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:21699368G>A ENST00000261195.2 - 12 1713 c.1459C>T c.(1459-1461)Ccc>Tcc p.P487S NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 487 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GGTAGTAAGGGACTGGTGGAG 0.373000 8 30 0 0 0.000274275 0 0 GPD2 2820 broad.mit.edu 37 2 157427695 157427695 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:157427695C>T ENST00000310454.6 + 13 2030 c.1658C>T c.(1657-1659)tCa>tTa p.S553L GPD2_ENST00000409674.1_Missense_Mutation_p.S553L|GPD2_ENST00000409125.4_Missense_Mutation_p.S326L|GPD2_ENST00000438166.2_Missense_Mutation_p.S553L|GPD2_ENST00000540309.1_Intron NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 553 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 GATATGATTTCACGTCGTACT 0.418000 32 86 0 0 0.00058488 0 0 CSMD2 114784 broad.mit.edu 37 1 34117982 34117982 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:34117982C>T ENST00000373381.4 - 28 4703 c.4527G>A c.(4525-4527)aaG>aaA p.K1509K CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.K382K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1469 CUB 9. 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) AGTCACACTCCTTGCCTGGCG 0.557000 24 62 0 0 0.00047179 0 0 C3orf56 285311 broad.mit.edu 37 3 126916050 126916050 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:126916050C>T ENST00000398112.1 + 2 762 c.522C>T c.(520-522)tcC>tcT p.S174S NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) AGGGGCCATCCAGAGGAGCTC 0.637000 6 24 0 0 8.12818e-05 0 0 VSTM4 196740 broad.mit.edu 37 10 50315705 50315705 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:50315705C>T ENST00000332853.3 - 2 414 c.391G>A c.(391-393)Gaa>Aaa p.E131K VSTM4_ENST00000298454.3_Missense_Mutation_p.E131K NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 131 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 CTGCTGATTTCCTGGACTCTG 0.617000 13 52 0 0 0.000151284 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629920 9629920 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:9629920G>A ENST00000382492.2 - 1 543 c.225C>T c.(223-225)ttC>ttT p.F75F CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 75 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AACACATGATGAATTCTATGA 0.393000 7 25 0 0 8.12818e-05 0 0 CBLB 868 broad.mit.edu 37 3 105421148 105421148 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:105421148G>A ENST00000264122.4 - 12 2070 c.1749C>T c.(1747-1749)tcC>tcT p.S583S CBLB_ENST00000394027.3_Silent_p.S605S|CBLB_ENST00000405772.1_Silent_p.S583S|CBLB_ENST00000403724.1_Silent_p.S583S NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 583 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GCGGGTCTCTGGAAGGCACGC 0.542000 Mis S AML 9 39 0 0 0.000274275 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601033 64601033 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:64601033G>A ENST00000498707.1 - 21 3495 c.3153C>T c.(3151-3153)ttC>ttT p.F1051F ADAMTS9_ENST00000295903.4_Silent_p.F1023F NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1051 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTGGACAAGGGAACTCACTGC 0.458000 109 327 0 0 0.000147903 0 0 COL28A1 340267 broad.mit.edu 37 7 7516754 7516754 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:7516754G>A ENST00000399429.3 - 14 1362 c.1222C>T c.(1222-1224)Cca>Tca p.P408S NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 408 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TTTGGTCCTGGAAATCCTTCT 0.458000 27 71 0 0 0.000409698 0 0 ZP1 22917 broad.mit.edu 37 11 60637231 60637231 + Silent SNP C C A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:60637231C>A ENST00000278853.5 + 3 540 c.540C>A c.(538-540)ccC>ccA p.P180P NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 180 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 ATGCCTTTCCCAGCCCACTGG 0.632000 9 27 2.80697e-09 5.74753e-08 6.40141e-05 1 0 SERTAD4 56256 broad.mit.edu 37 1 210415243 210415243 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:210415243G>A ENST00000367012.3 + 4 862 c.632G>A c.(631-633)gGa>gAa p.G211E SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 211 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) GCTAATGTTGGAAGTGCCTCC 0.507000 47 117 0 0 0.000147903 0 0 GRIA4 2893 broad.mit.edu 37 11 105623911 105623911 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:105623911G>A ENST00000393127.2 + 4 898 c.452G>A c.(451-453)tGg>tAg p.W151* GRIA4_ENST00000525187.1_Nonsense_Mutation_p.W151*|GRIA4_ENST00000428631.2_Nonsense_Mutation_p.W151*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.W151*|GRIA4_ENST00000393125.2_Nonsense_Mutation_p.W151*|GRIA4_ENST00000530497.1_Nonsense_Mutation_p.W151* NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 151 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) CACTACGAATGGAACTGTTTT 0.433000 89 80 0 0 0.000147903 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795746 69795746 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr4:69795746G>A ENST00000251566.4 - 6 1399 c.1369C>T c.(1369-1371)Cga>Tga p.R457* UGT2A3_ENST00000420231.2_Nonsense_Mutation_p.R168* NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 457 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AAGACTGCTCGATCTAGGGGC 0.448000 16 72 0 0 7.07596e-05 0 0 TRHR 7201 broad.mit.edu 37 8 110100013 110100013 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:110100013G>A ENST00000518632.1 + 2 623 c.272G>A c.(271-273)tGg>tAg p.W91* TRHR_ENST00000311762.2_Nonsense_Mutation_p.W91* P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 91 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TACGGTTCCTGGGTCTATGGC 0.493000 27 84 0 0 0.000339439 0 0 CCDC181 57821 broad.mit.edu 37 1 169388397 169388397 + Splice_Site SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:169388397C>T ENST00000545005.1 - 5 1576 c.1068_splice c.e5-1 p.E357_splice CCDC181_ENST00000367805.3_Splice_Site_p.E357_splice|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Splice_Site_p.E357_splice coiled-coil domain containing 181 CGTCGCTCTTCCTAGTAAAAG 0.308000 8 17 0 0 0.000157383 0 0 C22orf42 150297 broad.mit.edu 37 22 32554993 32554993 + Silent SNP C C T rs138905164 byFrequency TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr22:32554993C>T ENST00000382097.3 - 1 282 c.210G>A c.(208-210)ccG>ccA p.P70P NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 70 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 TCAGCATCTTCGGCGTCTTCG 0.557000 54 158 0 0 0.000147903 0 0 CYP27A1 1593 broad.mit.edu 37 2 219679735 219679735 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:219679735C>T ENST00000258415.4 + 9 2005 c.1578C>T c.(1576-1578)ttC>ttT p.F526F NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 526 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) GCCTGCAGTTCCTGCAGAGAC 0.587000 15 26 0 0 0.000308642 0 0 FANCM 57697 broad.mit.edu 37 14 45628328 45628328 + Nonsense_Mutation SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:45628328G>T ENST00000267430.5 + 9 1511 c.1426G>T c.(1426-1428)Gag>Tag p.E476* FANCM_ENST00000542564.2_Nonsense_Mutation_p.E450*|FANCM_ENST00000556036.1_Nonsense_Mutation_p.E476* NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 476 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GAAACGTGATGAGACCCGAGT 0.303000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 10 7.48243e-07 1.51837e-05 0.000442599 1 0 PAPPA 5069 broad.mit.edu 37 9 119115959 119115959 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:119115959C>T ENST00000328252.3 + 17 4603 c.4234C>T c.(4234-4236)Cct>Tct p.P1412S PAPPA_ENST00000534838.1_Missense_Mutation_p.P450S NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1412 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AGCTTGTGTTCCTGTGACCTG 0.507000 21 34 0 0 0.000229342 0 0 BRINP3 339479 broad.mit.edu 37 1 190068158 190068158 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:190068158C>T ENST00000367462.3 - 8 1522 c.1291G>A c.(1291-1293)Gac>Aac p.D431N FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.D329N NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 431 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) ACCACCTGGTCATTCGGACAC 0.592000 5 19 0 0 8.12818e-05 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71191934 71191934 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:71191934C>T ENST00000234396.4 + 13 1390 c.1317C>T c.(1315-1317)acC>acT p.T439T ATP6V1B1_ENST00000412314.1_Silent_p.T422T|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 439 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 AGGCGCTCACCTCTGAGGACC 0.592000 OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 40 0 0 6.40141e-05 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673118 141673118 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:141673118G>A ENST00000547270.1 - 1 455 c.372C>T c.(370-372)ttC>ttT p.F124F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 124 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) AGGTGTGAGAGAAACGGATGA 0.522000 8 25 0 0 0.000157383 0 0 OR4K15 81127 broad.mit.edu 37 14 20444148 20444148 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:20444148G>A ENST00000305051.5 + 1 546 c.471G>A c.(469-471)atG>atA p.M157I NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCACTACATGACAGTCATGA 0.453000 36 97 0 0 0.000109025 0 0 SLC4A4 8671 broad.mit.edu 37 4 72432772 72432772 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr4:72432772C>T ENST00000425175.1 + 24 3268 c.3151C>T c.(3151-3153)Cct>Tct p.P1051S SLC4A4_ENST00000264485.5_3'UTR|SLC4A4_ENST00000351898.6_3'UTR|SLC4A4_ENST00000340595.3_3'UTR NM_001134742.1 NP_001128214.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 0 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGATAAAATTCCTTTCCTTCA 0.378000 17 65 0 0 0.000229342 0 0 MAGEB1 4112 broad.mit.edu 37 X 30268851 30268851 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chrX:30268851G>A ENST00000378981.3 + 4 562 c.241G>A c.(241-243)Gaa>Aaa p.E81K MAGEB1_ENST00000397548.2_Missense_Mutation_p.E81K|MAGEB1_ENST00000397550.1_Missense_Mutation_p.E81K NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 81 NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 CGAATCTGACGAAGGTGCCAA 0.557000 5 6 0 0 3.59834e-05 0 0 MYOCD 93649 broad.mit.edu 37 17 12666526 12666526 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:12666526C>T ENST00000425538.1 + 14 2726 c.2526C>T c.(2524-2526)atC>atT p.I842I RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Silent_p.I794I NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 794 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCAGCCAGATCCCCTTTGATC 0.483000 25 81 0 0 0.000147802 0 0 C9orf131 138724 broad.mit.edu 37 9 35044878 35044878 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:35044878G>A ENST00000312292.5 + 2 2299 c.2252G>A c.(2251-2253)gGa>gAa p.G751E C9orf131_ENST00000421362.2_Missense_Mutation_p.G703E|C9orf131_ENST00000354479.5_Missense_Mutation_p.G678E NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 751 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTACCCAAGGGAGTAACGTGC 0.602000 17 33 0 0 0.000422831 0 0 DDX11 1663 broad.mit.edu 37 12 31255459 31255459 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:31255459C>T ENST00000407793.2 + 23 2621 c.2370C>T c.(2368-2370)ggC>ggT p.G790G DDX11_ENST00000350437.4_Silent_p.G740G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.G764G|DDX11_ENST00000545668.1_Silent_p.G790G|DDX11_ENST00000542838.1_Silent_p.G790G NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 790 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) ACAACCTAGGCCGGTAAGTAG 0.612000 Multiple Myeloma(12;0.14) 18 27 0 0 7.07596e-05 0 0 TNN 63923 broad.mit.edu 37 1 175105031 175105031 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:175105031G>A ENST00000239462.4 + 16 3494 c.3381G>A c.(3379-3381)agG>agA p.R1127R NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1127 Fibrinogen C-terminal. 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) AGCGATGGAGGAGCTATGTGG 0.532000 32 95 0 0 0.000132358 0 0 NUAK1 9891 broad.mit.edu 37 12 106464638 106464638 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:106464638C>T ENST00000261402.2 - 6 2125 c.746G>A c.(745-747)gGa>gAa p.G249E NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 249 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GGGCATTGTTCCATAAACAAG 0.537000 9 34 0 0 0.000274275 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45523370 45523370 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr21:45523370C>T ENST00000291574.4 + 23 3913 c.3738C>T c.(3736-3738)atC>atT p.I1246I NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1246 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 TCCTGGTCATCCCCAGCCAAG 0.607000 5 15 0 0 8.12818e-05 0 0 OR2T1 26696 broad.mit.edu 37 1 248570031 248570031 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:248570031G>A ENST00000366474.1 + 1 736 c.736G>A c.(736-738)Gag>Aag p.E246K NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E246K(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 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) AGCCCTCTACGAGACAGTGAT 0.498000 16 48 0 0 7.07596e-05 0 0 CHAMP1 283489 broad.mit.edu 37 13 115089779 115089779 + Silent SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr13:115089779G>T ENST00000361283.1 + 3 771 c.462G>T c.(460-462)ctG>ctT p.L154L NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 154 Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding TTACTCCCCTGGAGCCTCAGA 0.483000 8 145 0.000274275 0.00543593 0.000274275 1 0 ARL11 115761 broad.mit.edu 37 13 50204873 50204873 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr13:50204873C>T ENST00000282026.1 + 2 625 c.290C>T c.(289-291)cCc>cTc p.P97L ARL11_ENST00000490932.1_Intron NM_138450.5 NP_612459.1 Q969Q4 ARL11_HUMAN ADP-ribosylation factor-like 11 97 small GTPase mediated signal transduction intracellular GTP binding|protein binding kidney(1)|large_intestine(4)|ovary(1) 6 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) GCCCGCTTACCCGAGTCGGCG 0.607000 15 56 0 0 0.000566183 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885116 88885116 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:88885116C>T ENST00000319675.3 - 1 1180 c.1084G>A c.(1084-1086)Gac>Aac p.D362N NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 362 p.D362Y(1) 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 CTGGGAATGTCGTTCTCCGAG 0.627000 14 39 0 0 0.000219431 0 0 CCDC90B 60492 broad.mit.edu 37 11 82985699 82985699 + Silent SNP G G A rs149725315 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:82985699G>A ENST00000529689.1 - 4 843 c.409C>T c.(409-411)Ctg>Ttg p.L137L CCDC90B_ENST00000529073.1_Silent_p.L137L|CCDC90B_ENST00000525503.1_Silent_p.L36L|CCDC90B_ENST00000455220.2_Silent_p.L128L|CCDC90B_ENST00000529611.1_Silent_p.L36L Q9GZT6 CC90B_HUMAN coiled-coil domain containing 90B 137 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) TCTGCTCTCAGATTTGCAAAT 0.308000 35 33 0 0 0.000109025 0 0 NDUFV3 4731 broad.mit.edu 37 21 44323421 44323421 + Missense_Mutation SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr21:44323421G>T ENST00000354250.2 + 3 368 c.299G>T c.(298-300)aGt>aTt p.S100I NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) GCTAGTCCCAGTCCCAGTGGC 0.473000 33 95 1.66425e-11 3.42835e-10 0.000159656 1 0 ZNF99 7652 broad.mit.edu 37 19 22940058 22940058 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:22940058G>A ENST00000397104.3 - 6 2272 c.2273C>T c.(2272-2274)tCc>tTc p.S758F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAGGGTTGAGGAATTGTTAAA 0.348000 7 30 0 0 8.12818e-05 0 0 RAB3IP 117177 broad.mit.edu 37 12 70150363 70150363 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:70150363C>T ENST00000550536.1 + 3 935 c.478C>T c.(478-480)Cgt>Tgt p.R160C RAB3IP_ENST00000483530.2_Missense_Mutation_p.R144C|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R144C|RAB3IP_ENST00000247833.7_Missense_Mutation_p.R144C|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R160C NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 160 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding p.R160S(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TAGTCTGTCTCGTTTACGAAG 0.393000 18 84 0 0 9.7654e-05 0 0 ST7 7982 broad.mit.edu 37 7 116862934 116862934 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:116862934C>T ENST00000265437.5 + 16 1872 c.1658C>T c.(1657-1659)tCg>tTg p.S553L ST7_ENST00000393444.3_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000422922.1_Intron NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 553 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) ATTTTCTGCTCGGCAGAGTTC 0.428000 38 52 0 0 0.000509022 0 0 C1QL3 389941 broad.mit.edu 37 10 16556625 16556625 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:16556625C>T ENST00000298943.3 - 2 1609 c.670G>A c.(670-672)Gga>Aga p.G224R NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 224 C1q. collagen breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 ACTTCATCTCCCGGCTCCAAA 0.418000 15 51 0 0 0.000566183 0 0 RYR1 6261 broad.mit.edu 37 19 38958278 38958278 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:38958278C>T ENST00000355481.4 + 25 3338 c.3207C>T c.(3205-3207)gaC>gaT p.D1069D RYR1_ENST00000360985.3_Silent_p.D1069D|RYR1_ENST00000359596.3_Silent_p.D1069D NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1069 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTCGTTGTGACCGGGTGCGCA 0.557000 29 73 0 0 0.000339439 0 0 SP140L 93349 broad.mit.edu 37 2 231223698 231223698 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:231223698G>A ENST00000243810.6 + 4 290 c.290G>A c.(289-291)aGa>aAa p.R97K SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.R97K|SP140L_ENST00000444636.1_Missense_Mutation_p.R97K|SP140L_ENST00000458341.1_Missense_Mutation_p.R10K|SP140L_ENST00000396563.4_Missense_Mutation_p.R97K Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 97 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GATTCTTGTAGAAACCTGGTC 0.363000 31 94 0 0 0.000132358 0 0 SETD1A 9739 broad.mit.edu 37 16 30976275 30976275 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr16:30976275C>T ENST00000262519.8 + 7 1898 c.1212C>T c.(1210-1212)cgC>cgT p.R404R NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 404 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGCTGAGCGCTTCCCACCTT 0.652000 27 74 0 0 0.000227799 0 0 TNNT2 7139 broad.mit.edu 37 1 201334327 201334327 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:201334327C>T ENST00000509001.1 - 9 659 c.373G>A c.(373-375)Gac>Aac p.D125N TNNT2_ENST00000367322.1_Missense_Mutation_p.D125N|TNNT2_ENST00000236918.7_Missense_Mutation_p.D130N|TNNT2_ENST00000421663.2_Missense_Mutation_p.D127N|TNNT2_ENST00000458432.2_Missense_Mutation_p.D137N|TNNT2_ENST00000360372.4_Missense_Mutation_p.D120N|TNNT2_ENST00000367318.5_Missense_Mutation_p.D125N|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367315.2_Missense_Mutation_p.D125N|TNNT2_ENST00000367317.4_Missense_Mutation_p.D125N NM_001276347.1 NP_001263276.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 135 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 ACGATCCTGTCTTTGAGAGAA 0.552000 24 88 0 0 0.00047179 0 0 BTF3 689 broad.mit.edu 37 5 72794965 72794965 + Missense_Mutation SNP G G C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:72794965G>C ENST00000380591.3 + 2 358 c.139G>C c.(139-141)Gaa>Caa p.E47Q BTF3_ENST00000335895.8_Missense_Mutation_p.E3Q|BTF3_ENST00000514505.2_Intron NM_001037637.1 NP_001032726.1 P20290 BTF3_HUMAN basic transcription factor 3 47 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding endometrium(1)|large_intestine(2)|lung(2) 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) CTAGATGAAAGAAACAATCAT 0.403000 13 33 0 0 0.000308642 0 0 TSNARE1 203062 broad.mit.edu 37 8 143395785 143395785 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:143395785G>A ENST00000519651.1 - 7 534 c.431C>T c.(430-432)tCc>tTc p.S144F TSNARE1_ENST00000524325.1_Missense_Mutation_p.S363F|TSNARE1_ENST00000307180.3_Missense_Mutation_p.S364F|TSNARE1_ENST00000520166.1_Missense_Mutation_p.S363F|TSNARE1_ENST00000518928.1_5'UTR Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 364 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGCGCTCTGGACTTTTCTGC 0.532000 7 24 0 0 0.000274275 0 0 PLCE1 51196 broad.mit.edu 37 10 96014752 96014752 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:96014752C>T ENST00000260766.3 + 11 4134 c.3500C>T c.(3499-3501)cCc>cTc p.P1167L PLCE1_ENST00000371385.3_Missense_Mutation_p.P859L|PLCE1_ENST00000371380.2_Missense_Mutation_p.P1167L|PLCE1_ENST00000371375.1_Missense_Mutation_p.P859L NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1167 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ACGTCATCTCCCATCAGGCCA 0.552000 17 71 0 0 7.07596e-05 0 0 LSM14A 26065 broad.mit.edu 37 19 34712640 34712640 + Silent SNP T T C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:34712640T>C ENST00000544216.3 + 9 1442 c.1365T>C c.(1363-1365)taT>taC p.Y455Y LSM14A_ENST00000433627.5_Silent_p.Y455Y|LSM14A_ENST00000540746.2_Silent_p.Y414Y NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 455 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) ATTTTGAATATAGGGTAAGTG 0.453000 9 40 0 0 0.000442599 0 0 TMEM66 51669 broad.mit.edu 37 8 29927235 29927235 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:29927235G>A ENST00000256255.6 - 3 880 c.623C>T c.(622-624)cCt>cTt p.P208L TMEM66_ENST00000545648.1_Missense_Mutation_p.P36L|TMEM66_ENST00000536273.1_Missense_Mutation_p.P36L NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 208 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) GGAAAATGGAGGATACTCAGA 0.507000 9 86 0 0 3.86212e-05 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813600 24813600 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:24813600C>T ENST00000376451.2 + 8 2114 c.1854C>T c.(1852-1854)tcC>tcT p.S618S KIAA1217_ENST00000396446.1_Silent_p.S618S|KIAA1217_ENST00000376462.1_Silent_p.S855S|KIAA1217_ENST00000458595.1_Silent_p.S900S|KIAA1217_ENST00000307544.6_Silent_p.S618S|KIAA1217_ENST00000376454.3_Silent_p.S935S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Silent_p.S900S|KIAA1217_ENST00000396445.1_Silent_p.S618S Q5T5P2 SKT_HUMAN KIAA1217 935 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTCCGCAGTCCCCACAGATAC 0.572000 5 33 0 0 3.59834e-05 0 0 APC 324 broad.mit.edu 37 5 112175912 112175912 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:112175912C>T ENST00000457016.1 + 16 5001 c.4621C>T c.(4621-4623)Cag>Tag p.Q1541* APC_ENST00000508376.2_Nonsense_Mutation_p.Q1541*|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1541*|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1541 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.Q1541*(1)|p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGAATCAGAGCAGCCTAAAGA 0.358000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 13 37 0 0 0.000151284 0 0 ADAM7 8756 broad.mit.edu 37 8 24324528 24324528 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:24324528C>T ENST00000441335.2 + 6 785 c.606C>T c.(604-606)ccC>ccT p.P202P RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000175238.6_Intron|ADAM7_ENST00000380789.1_Intron Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 0 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TATCTTTACCCCAAATGAAAC 0.343000 11 24 0 0 3.86212e-05 0 0 FLG 2312 broad.mit.edu 37 1 152280839 152280839 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:152280839C>T ENST00000368799.1 - 3 6558 c.6523G>A c.(6523-6525)Gga>Aga p.G2175R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2175 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G2175*(1) 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) TCAGACCTTCCCTGGGATGTG 0.562000 Ichthyosis 34 411 0 0 0.000228196 0 0 SRGAP3 9901 broad.mit.edu 37 3 9034648 9034648 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:9034648C>T ENST00000383836.3 - 20 2927 c.2500G>A c.(2500-2502)Gac>Aac p.D834N SRGAP3_ENST00000360413.3_Missense_Mutation_p.D810N NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 834 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GACTGGAGGTCGTTTTTGGAA 0.582000 T RAF1 pilocytic astrocytoma 10 32 0 0 3.86212e-05 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407478 75407478 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:75407478C>T ENST00000394810.2 - 4 2081 c.1932G>A c.(1930-1932)acG>acA p.T644T SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Silent_p.T420T NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 644 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GCGAGTTCTTCGTCTCCTCCT 0.637000 50 121 0 0 0.000147903 0 0 MGAM 8972 broad.mit.edu 37 7 141759716 141759716 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:141759716G>A ENST00000475668.2 + 33 4063 c.4009G>A c.(4009-4011)Gat>Aat p.D1337N MGAM_ENST00000549489.2_Missense_Mutation_p.D1337N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1337 Glucoamylase. 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) GGGCGTGGAGGATGACGTCTT 0.493000 5 29 0 0 3.59834e-05 0 0 CD200R1 131450 broad.mit.edu 37 3 112647750 112647750 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:112647750G>A ENST00000471858.1 - 4 845 c.613C>T c.(613-615)Cac>Tac p.H205Y CD200R1_ENST00000295863.4_Missense_Mutation_p.H183Y|CD200R1_ENST00000308611.3_Missense_Mutation_p.H228Y NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 205 Ig-like C2-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 ACCTCCCAGTGGCATGTACTC 0.507000 7 33 0 0 0.000157383 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819698 70819698 + Missense_Mutation SNP T T C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:70819698T>C ENST00000370944.4 - 1 707 c.394A>G c.(394-396)Atc>Gtc p.I132V ANKRD13C_ENST00000262346.6_Missense_Mutation_p.I132V NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 132 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 TGCGTGCGGATGAGAGAGGAG 0.617000 4 17 0 0 0.00024832 0 0 PBLD 64081 broad.mit.edu 37 10 70048753 70048753 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:70048753G>A ENST00000358769.2 - 7 649 c.447C>T c.(445-447)gtC>gtT p.V149V PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000277795.4_Silent_p.V116V|PBLD_ENST00000309049.4_Silent_p.V149V|PBLD_ENST00000336578.1_Silent_p.V116V|PBLD_ENST00000432941.1_Silent_p.V149V NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 149 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 AGATGTCCTGGACCAGTGTGT 0.512000 30 54 0 0 0.000409698 0 0 GAS2 2620 broad.mit.edu 37 11 22747973 22747973 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:22747973G>A ENST00000454584.2 + 4 708 c.403G>A c.(403-405)Ggt>Agt p.G135S GAS2_ENST00000433790.1_Missense_Mutation_p.G135S|GAS2_ENST00000278187.3_Missense_Mutation_p.G135S NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 135 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 TGAATCGGAAGGTTTGGGTAT 0.378000 12 78 0 0 0.000308642 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1842672 1842672 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:1842672C>T ENST00000518288.1 + 14 1612 c.1449C>T c.(1447-1449)atC>atT p.I483I ARHGEF10_ENST00000262112.6_Silent_p.I483I|ARHGEF10_ENST00000349830.3_Silent_p.I458I|ARHGEF10_ENST00000398560.1_Silent_p.I444I|ARHGEF10_ENST00000398564.1_Silent_p.I483I|ARHGEF10_ENST00000520359.1_Silent_p.I420I O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 483 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TATTTCAGATCGCGCTGGCCA 0.552000 10 36 0 0 3.86212e-05 0 0 IFNA13 3447 broad.mit.edu 37 9 21367911 21367911 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:21367911C>T ENST00000449498.1 - 1 164 c.99G>A c.(97-99)ctG>ctA p.L33L NM_006900.3 NP_008831.3 P01562 IFNA1_HUMAN interferon, alpha 13 32 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) TCCTGTTATCCAGGCTGTGGG 0.542000 13 19 0 0 9.7654e-05 0 0 ARSD 414 broad.mit.edu 37 X 2828785 2828785 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chrX:2828785G>A ENST00000381154.1 - 7 1125 c.1050C>T c.(1048-1050)ttC>ttT p.F350F NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 350 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGAAATACGTGAATGTTGAGT 0.423000 37 40 0 0 0.000191422 0 0 ARVCF 421 broad.mit.edu 37 22 19969131 19969131 + Missense_Mutation SNP A A G TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr22:19969131A>G ENST00000263207.3 - 5 790 c.499T>C c.(499-501)Ttc>Ctc p.F167L ARVCF_ENST00000406522.1_Missense_Mutation_p.F104L|ARVCF_ENST00000344269.3_Missense_Mutation_p.F104L|ARVCF_ENST00000406259.1_Missense_Mutation_p.F167L|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000401994.1_Missense_Mutation_p.F104L NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 167 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CGCAGCAGGAAATGCCGGTCC 0.687000 11 37 0 0 0.00010058 0 0 FLG 2312 broad.mit.edu 37 1 152284730 152284730 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:152284730C>T ENST00000368799.1 - 3 2667 c.2632G>A c.(2632-2634)Gga>Aga p.G878R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 878 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) TCAGACCTTCCCTGGGATGTG 0.582000 Ichthyosis 12 320 0 0 0.000295444 0 0 MYO1A 4640 broad.mit.edu 37 12 57430866 57430866 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:57430866G>A ENST00000442789.2 - 21 2352 c.2065C>T c.(2065-2067)Ctc>Ttc p.L689F MYO1A_ENST00000544473.1_Missense_Mutation_p.L527F|MYO1A_ENST00000300119.3_Missense_Mutation_p.L689F NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 689 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TGTTCTTCGAGGTAGAAAAGC 0.572000 26 72 0 0 0.000227799 0 0 ZYG11B 79699 broad.mit.edu 37 1 53267769 53267769 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:53267769C>T ENST00000294353.6 + 10 1798 c.1653C>T c.(1651-1653)ttC>ttT p.F551F ZYG11B_ENST00000545132.1_Silent_p.F551F|ZYG11B_ENST00000443756.2_Intron NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 551 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 TACAGTCTTTCCCAACTGAGT 0.294000 17 91 0 0 0.000229342 0 0 PAX2 5076 broad.mit.edu 37 10 102587325 102587325 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:102587325C>T ENST00000428433.1 + 11 1753 c.1203C>T c.(1201-1203)gcC>gcT p.A401A PAX2_ENST00000355243.3_Silent_p.A378A|PAX2_ENST00000361791.3_3'UTR|PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000556085.1_Silent_p.A377A NM_003987.3|NM_003990.3 NP_003978.2|NP_003981.2 Q02962 PAX2_HUMAN paired box 2 401 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) ATAGTGCCGCCCCCCGGGGCT 0.572000 20 75 0 0 9.22233e-05 0 0 RSRC1 51319 broad.mit.edu 37 3 157841716 157841716 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:157841716C>T ENST00000464171.1 + 3 381 c.256C>T c.(256-258)Cgt>Tgt p.R86C RSRC1_ENST00000475278.2_Missense_Mutation_p.R86C|RSRC1_ENST00000480820.1_Missense_Mutation_p.R86C|RSRC1_ENST00000312179.6_Missense_Mutation_p.R86C|RSRC1_ENST00000295930.3_Missense_Mutation_p.R86C NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 86 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAGTCGAAGTCGTTCAAGGGG 0.383000 25 84 0 0 0.000227799 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431305 56431305 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:56431305G>A ENST00000302969.2 + 1 168 c.144G>A c.(142-144)ctG>ctA p.L48L NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L48L(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TGATTATCCTGATTACAACAG 0.478000 41 116 0 0 0.000125731 0 0 DYSF 8291 broad.mit.edu 37 2 71730347 71730347 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:71730347C>T ENST00000258104.3 + 4 517 c.240C>T c.(238-240)ttC>ttT p.F80F DYSF_ENST00000409366.1_Silent_p.F81F|DYSF_ENST00000429174.2_Silent_p.F80F|DYSF_ENST00000413539.2_Silent_p.F80F|DYSF_ENST00000410020.3_Silent_p.F81F|DYSF_ENST00000410041.1_Silent_p.F81F|DYSF_ENST00000409762.1_Silent_p.F80F|DYSF_ENST00000409651.1_Silent_p.F81F|DYSF_ENST00000409744.1_Silent_p.F81F|DYSF_ENST00000394120.2_Silent_p.F81F|DYSF_ENST00000409582.3_Silent_p.F80F NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 80 C2 1. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTCTCAGGTTCCTGGGGGAAG 0.592000 22 91 0 0 0.000375601 0 0 OR8B12 219858 broad.mit.edu 37 11 124412729 124412729 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:124412729G>A ENST00000306842.2 - 1 846 c.822C>T c.(820-822)tcC>tcT p.S274S NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TATAGAACAGGGAGGACACTT 0.438000 19 30 0 0 0.000132079 0 0 SAGE1 55511 broad.mit.edu 37 X 134989136 134989136 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chrX:134989136C>T ENST00000535938.1 + 8 955 c.788C>T c.(787-789)cCc>cTc p.P263L SAGE1_ENST00000370709.3_Missense_Mutation_p.P263L|SAGE1_ENST00000324447.3_Missense_Mutation_p.P263L|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 263 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AAGGGCCAACCCCAACCTGAT 0.463000 23 18 0 0 0.000295444 0 0 STPG2 285555 broad.mit.edu 37 4 98762039 98762039 + Silent SNP C C T rs142342055 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr4:98762039C>T ENST00000295268.3 - 9 1178 c.1089G>A c.(1087-1089)gaG>gaA p.E363E STPG2_ENST00000506482.1_Intron NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 CTTGGGACATCTCATATGATT 0.358000 26 103 0 0 9.22233e-05 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988324 103988324 + Splice_Site SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:103988324C>T ENST00000370005.3 + 3 605 c.385_splice c.e3+1 p.L128_splice NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 128 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.L128L(1) breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) TCATAGAACTCGGTGAGTGGC 0.512000 25 66 0 0 0.000117367 0 0 OR2M5 127059 broad.mit.edu 37 1 248309135 248309135 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:248309135G>A ENST00000366476.1 + 1 686 c.686G>A c.(685-687)gGa>gAa p.G229E NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATTCACATGGGATCTGGAGAG 0.448000 48 147 0 0 0.000147903 0 0 C1orf87 127795 broad.mit.edu 37 1 60456397 60456397 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:60456397G>A ENST00000371201.3 - 12 1696 c.1589C>T c.(1588-1590)tCg>tTg p.S530L C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.S164L|C1orf87_ENST00000450089.2_Missense_Mutation_p.S301L NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 530 calcium ion binding p.S530L(1) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 ATTTTCTCCCGAACGGAATCT 0.473000 55 161 0 0 0.000147903 0 0 DNAH10 196385 broad.mit.edu 37 12 124315125 124315125 + Missense_Mutation SNP T T C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:124315125T>C ENST00000409039.3 + 25 4095 c.4070T>C c.(4069-4071)gTc>gCc p.V1357A NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1357 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAAACGTCTGTCTTTTTTGAA 0.373000 33 70 0 0 0.000191422 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887329 12887329 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:12887329C>T ENST00000535591.1 - 3 723 c.528G>A c.(526-528)tgG>tgA p.W176* NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 176 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TGGGCAGTATCCACTTGCAAT 0.483000 71 234 0 0 0.000147903 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33060754 33060754 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:33060754G>A ENST00000373510.4 + 4 1152 c.923G>A c.(922-924)aGg>aAg p.R308K RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R308K NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 ACAGGAGAAAGGCCCTATCCA 0.453000 23 61 0 0 0.000147802 0 0 VWF 7450 broad.mit.edu 37 12 6181605 6181605 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:6181605C>T ENST00000261405.5 - 9 1255 c.1001G>A c.(1000-1002)gGa>gAa p.G334E NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 334 TIL 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CAGGAGCTGTCCCTCTGGGGT 0.572000 20 44 0 0 0.000295444 0 0 PTPRR 5801 broad.mit.edu 37 12 71286483 71286483 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:71286483G>A ENST00000283228.2 - 2 785 c.333C>T c.(331-333)atC>atT p.I111I NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 111 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTGCTGCTGGGATTGGGAGAT 0.418000 30 84 0 0 0.000491102 0 0 OR13C8 138802 broad.mit.edu 37 9 107331799 107331799 + Silent SNP G G A rs140558238 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:107331799G>A ENST00000335040.1 + 1 351 c.351G>A c.(349-351)acG>acA p.T117T NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCTTAGGCACGATGGCACTGG 0.522000 15 22 0 0 0.000219431 0 0 ZNF280D 54816 broad.mit.edu 37 15 56981258 56981258 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:56981258G>A ENST00000559237.1 - 8 1405 c.722C>T c.(721-723)cCt>cTt p.P241L ZNF280D_ENST00000267807.7_Missense_Mutation_p.P254L|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P241L NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) ATTTTTCAAAGGATCCAAAAG 0.284000 19 73 0 0 0.000175454 0 0 ZNF536 9745 broad.mit.edu 37 19 31025837 31025837 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:31025837G>A ENST00000355537.3 + 3 2401 c.2254G>A c.(2254-2256)Gac>Aac p.D752N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 752 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGCCATGAAGGACTGCCCGTA 0.587000 12 69 0 0 6.40141e-05 0 0 CSMD2 114784 broad.mit.edu 37 1 34038260 34038260 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:34038260C>T ENST00000373381.4 - 50 7784 c.7608G>A c.(7606-7608)aaG>aaA p.K2536K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2538 Sushi 15. 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) CCATTCCATTCTTGGGGGCCT 0.488000 16 54 0 0 0.000229342 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493762 20493762 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:20493762G>A ENST00000202677.6 - 32 4393 c.4251C>T c.(4249-4251)tcC>tcT p.S1417S NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1417 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 ACACCTCAAAGGACAGCTCGG 0.552000 4 22 0 0 3.59834e-05 0 0 SDR9C7 121214 broad.mit.edu 37 12 57323194 57323194 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:57323194C>T ENST00000293502.1 - 3 847 c.704G>A c.(703-705)gGa>gAa p.G235E NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 235 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 ATAATCCTCTCCGTAGCTGTC 0.577000 15 45 0 0 7.07596e-05 0 0 MTRF1 9617 broad.mit.edu 37 13 41834968 41834968 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr13:41834968G>A ENST00000379480.4 - 2 176 c.76C>T c.(76-78)Cat>Tat p.H26Y MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.H39Y|MTRF1_ENST00000379477.1_Missense_Mutation_p.H26Y NM_004294.2 NP_004285.2 O75570 RF1M_HUMAN mitochondrial translational release factor 1 26 regulation of translational termination mitochondrion translation release factor activity, codon specific breast(1)|endometrium(4)|large_intestine(3)|lung(6) 14 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) TGATGAGAATGGAGCTGGATG 0.378000 12 29 0 0 0.000219431 0 0 CYP26B1 56603 broad.mit.edu 37 2 72362371 72362371 + Missense_Mutation SNP G G A rs142987158 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:72362371G>A ENST00000001146.2 - 3 810 c.607C>T c.(607-609)Cct>Tct p.P203S CYP26B1_ENST00000546307.1_Missense_Mutation_p.P128S|CYP26B1_ENST00000412253.1_Missense_Mutation_p.P12S NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 203 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding p.P203S(1) breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 TCCTCCTCAGGGATGCTGAAG 0.632000 14 55 0 0 0.000308642 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481797 140481797 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:140481797G>A ENST00000231130.2 + 1 1564 c.1564G>A c.(1564-1566)Gag>Aag p.E522K NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 522 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGACTACGAGGCCCTGCA 0.692000 10 36 0 0 0.000566183 0 0 CHRM2 1129 broad.mit.edu 37 7 136700081 136700081 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:136700081C>T ENST00000445907.2 + 3 997 c.469C>T c.(469-471)Cca>Tca p.P157S AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P157S|CHRM2_ENST00000320658.5_Missense_Mutation_p.P157S|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P157S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P157S|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P157S NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 157 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 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) CCTCTGGGCTCCAGCCATTCT 0.502000 25 77 0 0 0.000117367 0 0 ZNF106 64397 broad.mit.edu 37 15 42743105 42743105 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:42743105G>A ENST00000263805.4 - 2 1622 c.1296C>T c.(1294-1296)tgC>tgT p.C432C ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 CTGCAGTGGGGCACTGTCTCA 0.433000 62 140 0 0 0.000147903 0 0 SPINK5 11005 broad.mit.edu 37 5 147478852 147478852 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:147478852G>A ENST00000359874.3 + 12 1139 c.1066G>A c.(1066-1068)Gaa>Aaa p.E356K SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000256084.7_Missense_Mutation_p.E356K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E356K NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 356 anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACAAAAGAGAATCTGGAAA 0.373000 8 20 0 0 0.000442599 0 0 RYR3 6263 broad.mit.edu 37 15 33855189 33855189 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:33855189G>A ENST00000389232.4 + 11 1194 c.1124G>A c.(1123-1125)cGc>cAc p.R375H RYR3_ENST00000415757.3_Missense_Mutation_p.R375H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 375 MIR 5. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R375H(1) 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) AAAACTTCCCGCCTGGGACCT 0.448000 30 73 0 0 0.000409698 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573066 140573066 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr5:140573066C>T ENST00000239446.4 + 1 1125 c.941C>T c.(940-942)tCt>tTt p.S314F NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 314 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAGTAAATTCTTACAAAATA 0.373000 13 36 0 0 0.00010058 0 0 IKZF2 22807 broad.mit.edu 37 2 213914548 213914548 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:213914548G>A ENST00000457361.1 - 5 631 c.463C>T c.(463-465)Ctt>Ttt p.L155F IKZF2_ENST00000434687.1_Missense_Mutation_p.L155F|IKZF2_ENST00000374319.4_Missense_Mutation_p.L129F|IKZF2_ENST00000451136.2_Missense_Mutation_p.L129F|IKZF2_ENST00000413091.3_Missense_Mutation_p.L155F|IKZF2_ENST00000421754.2_Missense_Mutation_p.L129F|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.L161F NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGTCTCAGAAGGTTGCCCTTC 0.488000 4 26 0 0 0.00024832 0 0 AQP9 366 broad.mit.edu 37 15 58465346 58465346 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:58465346G>A ENST00000219919.4 + 3 688 c.318G>A c.(316-318)gtG>gtA p.V106V AQP9_ENST00000536493.1_Silent_p.V106V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Silent_p.V41V NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 106 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) CATTTTATGTGGGAGCCCAGT 0.488000 51 163 0 0 0.000147903 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 11 0 0 0.00024832 0 0 CCR2 729230 broad.mit.edu 37 3 46399601 46399601 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:46399601C>T ENST00000292301.4 + 2 1068 c.583C>T c.(583-585)Cca>Tca p.P195S CCR2_ENST00000400888.2_Missense_Mutation_p.P195S|CCR2_ENST00000445132.2_Missense_Mutation_p.P195S|CCR2_ENST00000465202.1_Intron NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 195 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CCCTTATTTTCCACGAGGATG 0.453000 99 294 0 0 0.000147903 0 0 F2 2147 broad.mit.edu 37 11 46747541 46747541 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:46747541G>A ENST00000311907.5 + 7 748 c.692G>A c.(691-693)gGg>gAg p.G231E F2_ENST00000530231.1_Missense_Mutation_p.G231E NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 231 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) ACCACACATGGGCTCCCCTGC 0.642000 15 29 0 0 0.000422831 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634942 70634942 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:70634942C>T ENST00000381269.2 - 2 951 c.198G>A c.(196-198)gaG>gaA p.E66E SLC8A3_ENST00000357887.3_Silent_p.E66E|SLC8A3_ENST00000356921.2_Silent_p.E66E|SLC8A3_ENST00000534137.1_Silent_p.E66E|SLC8A3_ENST00000528359.1_Silent_p.E66E NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 66 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GGGAAGGGTTCTCCGGGTACC 0.547000 11 32 0 0 6.40141e-05 0 0 ARMS2 387715 broad.mit.edu 37 10 124214457 124214457 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:124214457C>T ENST00000528446.1 + 1 289 c.214C>T c.(214-216)Cac>Tac p.H72Y NM_001099667.1 NP_001093137.1 P0C7Q2 ARMS2_HUMAN age-related maculopathy susceptibility 2 72 retina homeostasis mitochondrion|photoreceptor inner segment ovary(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGCTAAAATCCACACTGAGCT 0.527000 6 32 0 0 3.59834e-05 0 0 PAMR1 25891 broad.mit.edu 37 11 35456129 35456129 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:35456129G>A ENST00000378880.2 - 10 2002 c.1557C>T c.(1555-1557)gaC>gaT p.D519D PAMR1_ENST00000532848.1_Silent_p.D479D|PAMR1_ENST00000378878.3_Silent_p.D408D|PAMR1_ENST00000278360.3_Silent_p.D536D NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 519 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CAACTTTCAGGTCTGCTGTCT 0.552000 23 76 0 0 0.000147802 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65209922 65209922 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:65209922G>A ENST00000247226.7 + 15 3301 c.2993G>A c.(2992-2994)tGc>tAc p.C998Y PLEKHG3_ENST00000484731.2_Missense_Mutation_p.C559Y|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.C1054Y|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.C587Y|PLEKHG3_ENST00000492928.1_Intron NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 1054 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) CGTGAGCTCTGCTCCAAGTAT 0.721000 13 55 0 0 0.000219431 0 0 TTN 7273 broad.mit.edu 37 2 179617872 179617872 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:179617872C>T ENST00000589042.1 - 47 11514 c.11290G>A c.(11290-11292)Gag>Aag p.E3764K TTN_ENST00000342992.6_Missense_Mutation_p.E3447K|TTN_ENST00000591111.1_Missense_Mutation_p.E3447K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3401K|TTN_ENST00000360870.5_Missense_Mutation_p.E3447K|TTN_ENST00000359218.5_Missense_Mutation_p.E3526K|TTN_ENST00000342175.6_Missense_Mutation_p.E3593K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3447 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) ATCTCAATCTCTTGTTCAATC 0.294000 6 34 0 0 0.000274275 0 0 PHKA2 5256 broad.mit.edu 37 X 18959728 18959728 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chrX:18959728G>A ENST00000379942.4 - 8 1448 c.783C>T c.(781-783)tcC>tcT p.S261S NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 261 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) AGGAAATAATGGAAAGAAGTC 0.403000 21 14 0 0 0.000375601 0 0 CGNL1 84952 broad.mit.edu 37 15 57731149 57731149 + Missense_Mutation SNP G G A rs141629614 TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:57731149G>A ENST00000281282.5 + 2 1030 c.952G>A c.(952-954)Gaa>Aaa p.E318K NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 318 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GGATGATCAGGAATGTGCCAT 0.517000 8 34 0 0 6.40141e-05 0 0 HELB 92797 broad.mit.edu 37 12 66700177 66700177 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:66700177C>T ENST00000247815.4 + 3 719 c.660C>T c.(658-660)ttC>ttT p.F220F NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 220 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TAATGGAATTCCTTCCAGTTC 0.368000 23 76 0 0 0.000375601 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702304 27702304 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:27702304C>T ENST00000438700.3 - 1 993 c.876G>A c.(874-876)agG>agA p.R292R NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 292 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AGAGGGGATGCCTGCCGTGGT 0.627000 12 44 0 0 0.000219431 0 0 CHD6 84181 broad.mit.edu 37 20 40034065 40034065 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:40034065G>A ENST00000373233.3 - 37 7493 c.7316C>T c.(7315-7317)cCc>cTc p.P2439L CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2439 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) CCTCCTGCGGGGGCCCGTATC 0.532000 13 30 0 0 0.000151284 0 0 TANGO2 128989 broad.mit.edu 37 22 20024356 20024356 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr22:20024356C>T ENST00000327374.4 + 2 213 c.35C>T c.(34-36)cCt>cTt p.P12L TANGO2_ENST00000401886.1_Missense_Mutation_p.P12L|TANGO2_ENST00000401833.1_5'UTR|TANGO2_ENST00000420290.2_5'UTR|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000432883.1_Missense_Mutation_p.P12L|TANGO2_ENST00000447208.2_Missense_Mutation_p.P12L|TANGO2_ENST00000434570.2_5'UTR|TANGO2_ENST00000398042.2_Missense_Mutation_p.P12L NM_152906.4 NP_690870.3 transport and golgi organization 2 homolog (Drosophila) GATCCTCGCCCTGTTTCCAAA 0.577000 26 65 0 0 0.000279167 0 0 CCDC141 285025 broad.mit.edu 37 2 179732794 179732794 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:179732794G>A ENST00000420890.2 - 16 2650 c.2533C>T c.(2533-2535)Ctt>Ttt p.L845F CCDC141_ENST00000295723.5_Missense_Mutation_p.L270F NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 270 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCTAAGGAAAGGGCCAGTCTG 0.517000 9 36 0 0 3.86212e-05 0 0 GLP2R 9340 broad.mit.edu 37 17 9765381 9765381 + Silent SNP C C A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:9765381C>A ENST00000262441.5 + 9 1543 c.1030C>A c.(1030-1032)Cga>Aga p.R344R GLP2R_ENST00000574745.1_Silent_p.R164R NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 344 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane p.R344*(1) endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GTGGATCATCCGAGGACCCAT 0.502000 8 149 3.86212e-05 0.000774475 3.86212e-05 1 0 PIK3R5 23533 broad.mit.edu 37 17 8791943 8791943 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:8791943C>T ENST00000447110.1 - 10 1285 c.1161G>A c.(1159-1161)atG>atA p.M387I PIK3R5_ENST00000584803.1_Missense_Mutation_p.M387I|PIK3R5_ENST00000581552.1_Missense_Mutation_p.M387I NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 387 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 AGCCGCTGTCCATGCCATCAG 0.662000 8 21 0 0 0.000157383 0 0 SLC12A6 9990 broad.mit.edu 37 15 34529692 34529692 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:34529692G>A ENST00000354181.3 - 22 3354 c.2862C>T c.(2860-2862)atC>atT p.I954I SLC12A6_ENST00000290209.5_Silent_p.I903I|SLC12A6_ENST00000397702.2_Silent_p.I895I|SLC12A6_ENST00000451844.2_Silent_p.I766I|SLC12A6_ENST00000558589.1_Silent_p.I945I|SLC12A6_ENST00000397707.2_Silent_p.I939I|SLC12A6_ENST00000458406.2_Silent_p.I895I|SLC12A6_ENST00000560164.1_Silent_p.I766I|SLC12A6_ENST00000558667.1_Silent_p.I954I|SLC12A6_ENST00000560611.1_Silent_p.I954I Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 954 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TCTTCATTTGGATACTGTTGT 0.448000 16 48 0 0 7.07596e-05 0 0 COL11A1 1301 broad.mit.edu 37 1 103471440 103471440 + Missense_Mutation SNP C C A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:103471440C>A ENST00000358392.2 - 18 2152 c.1835G>T c.(1834-1836)cGa>cTa p.R612L COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.R484L|COL11A1_ENST00000370096.3_Missense_Mutation_p.R600L|COL11A1_ENST00000353414.4_Missense_Mutation_p.R561L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 600 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATCAAACCCTCGATCTCCCTG 0.373000 6 141 0.000274275 0.00543593 0.000274275 1 0 TLL1 7092 broad.mit.edu 37 4 166996085 166996085 + Silent SNP G G A rs115884871 byFrequency TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr4:166996085G>A ENST00000061240.2 + 17 2891 c.2244G>A c.(2242-2244)acG>acA p.T748T TLL1_ENST00000507499.1_Silent_p.T771T NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 748 EGF-like 2; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTGTCAACACGATGGGGAGCT 0.383000 21 75 0 0 0.000229342 0 0 FRY 10129 broad.mit.edu 37 13 32818254 32818254 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr13:32818254C>T ENST00000380250.3 + 47 7259 c.6763C>T c.(6763-6765)Ctt>Ttt p.L2255F NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2255 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTACATGGACCTTTCTGTCGT 0.498000 13 45 0 0 0.000151284 0 0 ARID5A 10865 broad.mit.edu 37 2 97217381 97217381 + Missense_Mutation SNP G G C TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:97217381G>C ENST00000454558.2 + 7 2089 c.912G>C c.(910-912)ttG>ttC p.L304F ARID5A_ENST00000357485.3_Missense_Mutation_p.L372F Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 372 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding p.L372L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 GGGTGCTATTGGGGCCTCCTG 0.587000 5 8 0 0 3.59834e-05 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702305 27702305 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:27702305C>T ENST00000438700.3 - 1 992 c.875G>A c.(874-876)aGg>aAg p.R292K NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 292 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GAGGGGATGCCTGCCGTGGTT 0.627000 12 44 0 0 0.000219431 0 0 KLHL32 114792 broad.mit.edu 37 6 97562162 97562162 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr6:97562162C>T ENST00000369261.4 + 7 1494 c.1131C>T c.(1129-1131)tcC>tcT p.S377S KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Silent_p.S341S|KLHL32_ENST00000539200.1_Silent_p.S308S NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 377 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GCAGTAATTCCTGGGCAGAGA 0.572000 7 23 0 0 8.12818e-05 0 0 FLG 2312 broad.mit.edu 37 1 152278666 152278666 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:152278666C>T ENST00000368799.1 - 3 8731 c.8696G>A c.(8695-8697)gGa>gAa p.G2899E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2899 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) TTCTGAATGTCCCTCACTGTC 0.567000 Ichthyosis 25 248 0 0 0.000228196 0 0 MYO9A 4649 broad.mit.edu 37 15 72190967 72190967 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr15:72190967G>A ENST00000356056.5 - 25 4349 c.3877C>T c.(3877-3879)Cgt>Tgt p.R1293C MYO9A_ENST00000424560.1_Missense_Mutation_p.R1293C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1274C|MYO9A_ENST00000566885.1_Missense_Mutation_p.R913C|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1293C|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1293 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CCAAGAGAACGAACTTTCAGC 0.463000 21 52 0 0 0.000295444 0 0 MPO 4353 broad.mit.edu 37 17 56355339 56355339 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:56355339C>T ENST00000340482.3 - 6 1325 c.1149G>A c.(1147-1149)agG>agA p.R383R MPO_ENST00000225275.3_Silent_p.R351R|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 351 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TGCGCAGGTTCCTGGCCAGGG 0.637000 13 38 0 0 0.000151284 0 0 SYNE1 23345 broad.mit.edu 37 6 152809609 152809609 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr6:152809609C>T ENST00000367255.5 - 12 1570 c.969G>A c.(967-969)atG>atA p.M323I SYNE1_ENST00000265368.4_Missense_Mutation_p.M323I|SYNE1_ENST00000448038.1_Missense_Mutation_p.M330I|SYNE1_ENST00000367248.3_Missense_Mutation_p.M313I|SYNE1_ENST00000341594.5_Missense_Mutation_p.M323I|SYNE1_ENST00000367253.4_Missense_Mutation_p.M323I|SYNE1_ENST00000413186.2_Missense_Mutation_p.M323I|SYNE1_ENST00000466159.2_Missense_Mutation_p.M323I|SYNE1_ENST00000423061.1_Missense_Mutation_p.M330I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 323 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCAAACTTTCATTTCCTTAA 0.303000 HNSCC(10;0.0054) 15 29 0 0 0.000566183 0 0 MYO18B 84700 broad.mit.edu 37 22 26423117 26423117 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr22:26423117G>A ENST00000335473.7 + 43 7427 c.7177G>A c.(7177-7179)Gat>Aat p.D2393N MYO18B_ENST00000407587.2_Missense_Mutation_p.D2394N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2393N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2393 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 CTCTGTGGACGATGCGGGCTG 0.597000 11 32 0 0 3.86212e-05 0 0 KRT37 8688 broad.mit.edu 37 17 39578598 39578598 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:39578598C>T ENST00000225550.3 - 4 820 c.821G>A c.(820-822)gGg>gAg p.G274E AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 274 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CCGCATCTCCCCCAACACCCT 0.572000 38 89 0 0 0.000191422 0 0 GPR39 2863 broad.mit.edu 37 2 133175423 133175423 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:133175423G>A ENST00000329321.3 + 1 1277 c.808G>A c.(808-810)Gag>Aag p.E270K NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 270 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGGAAGTCCGAGAGCGAAGA 0.617000 17 57 0 0 0.000132079 0 0 TRAPPC2L 51693 broad.mit.edu 37 16 88926378 88926378 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr16:88926378C>T ENST00000565504.1 + 4 396 c.372C>T c.(370-372)tcC>tcT p.S124S TRAPPC2L_ENST00000568583.1_Silent_p.S124S|TRAPPC2L_ENST00000567895.1_Silent_p.S94S|TRAPPC2L_ENST00000301021.3_Silent_p.S124S|TRAPPC2L_ENST00000564365.1_Silent_p.S43S|TRAPPC2L_ENST00000567312.1_Silent_p.S94S|TRAPPC2L_ENST00000561840.1_Silent_p.S114S Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 124 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) GCATCCAGTCCAGGTGGGCCC 0.498000 9 24 0 0 0.000274275 0 0 PKD1L1 168507 broad.mit.edu 37 7 47894629 47894629 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:47894629C>T ENST00000289672.2 - 30 4760 c.4710G>A c.(4708-4710)agG>agA p.R1570R NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1570 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TTTTATTTCTCCTATTATCCT 0.358000 12 46 0 0 0.000219431 0 0 SMARCD1 6602 broad.mit.edu 37 12 50484051 50484051 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:50484051C>T ENST00000394963.4 + 8 1299 c.901C>T c.(901-903)Cta>Tta p.L301L SMARCD1_ENST00000381513.4_Silent_p.L301L|SMARCD1_ENST00000548573.1_Silent_p.L99L NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 301 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.|SWIB. 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 AGACCCCCGCCTAGCTCGACT 0.498000 31 70 0 0 0.000132358 0 0 KLHL32 114792 broad.mit.edu 37 6 97562161 97562161 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr6:97562161C>T ENST00000369261.4 + 7 1493 c.1130C>T c.(1129-1131)tCc>tTc p.S377F KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.S341F|KLHL32_ENST00000539200.1_Missense_Mutation_p.S308F NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 377 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CGCAGTAATTCCTGGGCAGAG 0.567000 7 24 0 0 8.12818e-05 0 0 TSSC2 650368 broad.mit.edu 37 11 3423861 3423861 + RNA SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:3423861C>T ENST00000529482.1 + 0 705 GACCCAGACACGGAGCGGTCG 0.657000 6 10 0 0 8.12818e-05 0 0 ABCB5 340273 broad.mit.edu 37 7 20683156 20683156 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:20683156G>A ENST00000404938.2 + 7 1231 c.579G>A c.(577-579)tcG>tcA p.S193S NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 379 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CTACTTTTTCGATTGGCCTGG 0.428000 22 86 0 0 0.000229342 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170181 207170181 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:207170181C>T ENST00000374423.3 + 5 1315 c.929C>T c.(928-930)cCg>cTg p.P310L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 310 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 GCAGTAAACCCGAATAAAACT 0.373000 8 45 0 0 0.000274275 0 0 LIF 3976 broad.mit.edu 37 22 30639731 30639731 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr22:30639731G>A ENST00000249075.3 - 3 673 c.518C>T c.(517-519)tCg>tTg p.S173L LIF_ENST00000403987.3_3'UTR NM_002309.4 NP_002300.1 P15018 LIF_HUMAN leukemia inhibitory factor 173 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding breast(1)|lung(3)|skin(3) 7 Epithelial(10;0.171) ATCCTTACCCGAGGTGTCAGG 0.597000 12 56 0 0 0.000151284 0 0 TEX2 55852 broad.mit.edu 37 17 62290901 62290901 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:62290901G>A ENST00000258991.3 - 2 761 c.677C>T c.(676-678)tCc>tTc p.S226F TEX2_ENST00000583097.1_Missense_Mutation_p.S226F|TEX2_ENST00000584379.1_Missense_Mutation_p.S226F Q8IWB9 TEX2_HUMAN testis expressed 2 226 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CTCCTGCCGGGAAGTGTCCGT 0.527000 25 68 0 0 0.000117367 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449585 105449585 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chrX:105449585G>A ENST00000337685.2 + 5 945 c.160G>A c.(160-162)Gaa>Aaa p.E54K MUM1L1_ENST00000372552.1_Missense_Mutation_p.E54K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E54K NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 54 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGACAGCACAGAAACAAAGAT 0.388000 8 11 0 0 0.000157383 0 0 SCN2A 6326 broad.mit.edu 37 2 166221774 166221774 + Splice_Site SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:166221774G>A ENST00000375437.2 + 18 3810 c.e18+1 SCN2A_ENST00000375427.2_Splice_Site|SCN2A_ENST00000357398.3_Splice_Site|SCN2A_ENST00000283256.6_Splice_Site NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 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) TTTACAGAAGGTAAGCAAAAC 0.408000 17 44 0 0 0.000175454 0 0 ZFP64 55734 broad.mit.edu 37 20 50701658 50701658 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:50701658G>A ENST00000361387.2 - 9 1436 c.1376C>T c.(1375-1377)tCg>tTg p.S459L ZFP64_ENST00000371523.4_Missense_Mutation_p.S240L|ZFP64_ENST00000371518.2_Intron NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GCGGATGTGCGATTTGAGATT 0.597000 22 51 0 0 0.000375601 0 0 NSUN7 79730 broad.mit.edu 37 4 40810384 40810384 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr4:40810384C>T ENST00000381782.2 + 12 2080 c.1585C>T c.(1585-1587)Ctg>Ttg p.L529L NSUN7_ENST00000316607.5_3'UTR NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 AGCCAAGGGTCTGCTGGATGG 0.433000 15 55 0 0 0.000422831 0 0 CAMK1D 57118 broad.mit.edu 37 10 12870848 12870848 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:12870848C>T ENST00000378847.3 + 11 1457 c.1120C>T c.(1120-1122)Ccc>Tcc p.P374S NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 374 calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) GAGACCCAGGCCCACCACTGT 0.647000 49 179 0 0 0.000147903 0 0 MUC16 94025 broad.mit.edu 37 19 9077726 9077726 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr19:9077726G>A ENST00000397910.4 - 3 9923 c.9720C>T c.(9718-9720)acC>acT p.T3240T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3241 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 GTTCCACTGTGGTCTCCATGG 0.527000 44 118 0 0 0.000147903 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73961560 73961560 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:73961560C>T ENST00000476977.1 + 17 3551 c.1860C>T c.(1858-1860)atC>atT p.I620I GTF2IRD1_ENST00000424337.2_Silent_p.I620I|GTF2IRD1_ENST00000265755.3_Silent_p.I620I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.I652I Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 620 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCTTCGGGATCGCCAAGCTCC 0.592000 8 16 0 0 0.000442599 0 0 CCDC141 285025 broad.mit.edu 37 2 179702043 179702043 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:179702043G>A ENST00000420890.2 - 23 4020 c.3903C>T c.(3901-3903)acC>acT p.T1301T CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.T726T NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 726 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) ATCCTCTGGAGGTTAGTGGGG 0.468000 18 66 0 0 0.000229342 0 0 AGTR1 185 broad.mit.edu 37 3 148459531 148459531 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:148459531G>A ENST00000542281.1 + 4 1155 c.709G>A c.(709-711)Gat>Aat p.D237N AGTR1_ENST00000418473.2_Missense_Mutation_p.D237N|AGTR1_ENST00000402260.1_Missense_Mutation_p.D237N|AGTR1_ENST00000461609.1_Missense_Mutation_p.D237N|AGTR1_ENST00000349243.3_Missense_Mutation_p.D237N|AGTR1_ENST00000474935.1_Missense_Mutation_p.D237N|AGTR1_ENST00000404754.2_Missense_Mutation_p.D237N|AGTR1_ENST00000497524.1_Missense_Mutation_p.D237N|AGTR1_ENST00000475347.1_Missense_Mutation_p.D237N NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 237 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AAGAAATGATGATATTTTTAA 0.323000 15 55 0 0 9.7654e-05 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119936987 119936987 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:119936987C>T ENST00000297350.4 - 5 1210 c.832G>A c.(832-834)Gaa>Aaa p.E278K NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 278 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) ACGCTGTTTTCACAGAGGTCA 0.448000 14 50 0 0 0.000308642 0 0 OPRK1 4986 broad.mit.edu 37 8 54142243 54142243 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:54142243G>A ENST00000265572.3 - 4 1054 c.757C>T c.(757-759)Ctc>Ttc p.L253F RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.L164F|OPRK1_ENST00000520287.1_Missense_Mutation_p.L253F NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 253 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ACGCTCTTGAGACGCAGGATC 0.557000 18 42 0 0 0.000295444 0 0 RTP4 64108 broad.mit.edu 37 3 187089057 187089057 + Missense_Mutation SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:187089057G>T ENST00000259030.2 + 2 747 c.637G>T c.(637-639)Ggg>Tgg p.G213W NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 213 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) TAAGGGGAGTGGGTATGAGAA 0.463000 7 22 5.18039e-06 0.00010481 0.000157383 1 0 DEFB127 140850 broad.mit.edu 37 20 139486 139486 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:139486G>A ENST00000382388.3 + 2 196 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_139074.3 NP_620713.1 Q9H1M4 DB127_HUMAN defensin, beta 127 41 defense response to bacterium|innate immune response extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CAGAGTAAATGAAGTGCCTGA 0.398000 5 26 0 0 3.59834e-05 0 0 AVPR1B 553 broad.mit.edu 37 1 206225010 206225010 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:206225010C>T ENST00000367126.4 + 1 1035 c.570C>T c.(568-570)ttC>ttT p.F190F NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 190 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GGGCAGACTTCGGCTTCCCTT 0.632000 26 61 0 0 0.000117367 0 0 ARMC8 25852 broad.mit.edu 37 3 137956328 137956328 + Missense_Mutation SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:137956328G>T ENST00000469044.1 + 9 961 c.690G>T c.(688-690)ttG>ttT p.L230F ARMC8_ENST00000489213.1_Missense_Mutation_p.L188F|ARMC8_ENST00000358441.2_Missense_Mutation_p.L216F|ARMC8_ENST00000461822.1_Missense_Mutation_p.L230F|ARMC8_ENST00000471453.1_Missense_Mutation_p.L216F|ARMC8_ENST00000491704.1_Missense_Mutation_p.L188F|ARMC8_ENST00000538260.1_Missense_Mutation_p.L199F|ARMC8_ENST00000470821.1_Missense_Mutation_p.L230F|ARMC8_ENST00000485396.1_Missense_Mutation_p.L157F|ARMC8_ENST00000393058.3_Missense_Mutation_p.L220F|ARMC8_ENST00000481646.1_Missense_Mutation_p.L216F NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 230 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 TTCTAGTTTTGGTTGATGGAG 0.348000 10 418 2.80697e-09 5.74753e-08 6.40141e-05 1 0 PTPRF 5792 broad.mit.edu 37 1 44072118 44072118 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:44072118C>T ENST00000359947.4 + 20 4031 c.3691C>T c.(3691-3693)Ccc>Tcc p.P1231S PTPRF_ENST00000372414.3_Missense_Mutation_p.P1231S|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1222S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.P579S|PTPRF_ENST00000438120.1_Missense_Mutation_p.P1222S NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1231 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) CTTGAAGGAACCCATGGACCA 0.592000 31 91 0 0 0.000132358 0 0 PCDH15 65217 broad.mit.edu 37 10 55955504 55955504 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:55955504G>A ENST00000373965.2 - 11 1638 c.1244C>T c.(1243-1245)tCg>tTg p.S415L PCDH15_ENST00000373955.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395446.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395432.2_Missense_Mutation_p.S378L|PCDH15_ENST00000320301.6_Missense_Mutation_p.S415L|PCDH15_ENST00000361849.3_Missense_Mutation_p.S415L|PCDH15_ENST00000437009.1_Missense_Mutation_p.S415L|PCDH15_ENST00000414778.1_Missense_Mutation_p.S420L|PCDH15_ENST00000373957.3_Missense_Mutation_p.S393L|PCDH15_ENST00000395430.1_Missense_Mutation_p.S415L|PCDH15_ENST00000409834.1_Missense_Mutation_p.S19L|PCDH15_ENST00000395433.1_Missense_Mutation_p.S393L|PCDH15_ENST00000395440.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395438.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395445.1_Missense_Mutation_p.S415L|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 415 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GAGACTGTCCGAAATGGTTGC 0.373000 HNSCC(58;0.16) 22 67 0 0 9.22233e-05 0 0 KRT31 3881 broad.mit.edu 37 17 39551875 39551875 + Splice_Site SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:39551875C>T ENST00000251645.2 - 4 641 c.588_splice c.e4-1 p.E197_splice NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 197 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) GTATTGACCTCCTATGGATGC 0.493000 9 25 0 0 3.86212e-05 0 0 NEMF 9147 broad.mit.edu 37 14 50298965 50298965 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr14:50298965G>A ENST00000298310.5 - 9 1215 c.766C>T c.(766-768)Cca>Tca p.P256S NEMF_ENST00000545773.1_Missense_Mutation_p.P214S|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.P256S O60524 NEMF_HUMAN nuclear export mediator factor 256 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 TCCAAGCTTGGTTTTATTTCT 0.299000 12 64 0 0 0.000219431 0 0 ADARB2 105 broad.mit.edu 37 10 1262994 1262994 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:1262994C>T ENST00000381312.1 - 7 1904 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 527 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) ACCGTCCCTTCCCCGGACTCG 0.647000 5 10 0 0 3.59834e-05 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87445545 87445545 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr7:87445545G>A ENST00000338056.3 + 11 1655 c.1244G>A c.(1243-1245)gGa>gAa p.G415E RUNDC3B_ENST00000493037.1_Missense_Mutation_p.G349E|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.G398E NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 415 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) GAAGGAGATGGAAAACAAGAC 0.358000 13 27 0 0 0.00010058 0 0 SLC45A4 57210 broad.mit.edu 37 8 142221650 142221650 + Missense_Mutation SNP A A T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr8:142221650A>T ENST00000024061.3 - 8 2595 c.2288T>A c.(2287-2289)tTc>tAc p.F763Y SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000517878.1_3'UTR|SLC45A4_ENST00000433583.2_3'UTR NM_001080431.1 NP_001073900.1 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 0 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CTCGCTGAGGAAAAGAAGATA 0.493000 36 118 0 0 0.000509022 0 0 HNRNPK 3190 broad.mit.edu 37 9 86588850 86588850 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:86588850G>A ENST00000376263.3 - 8 592 c.369C>T c.(367-369)ctC>ctT p.L123L HNRNPK_ENST00000351839.3_Silent_p.L123L|HNRNPK_ENST00000360384.5_Silent_p.L123L|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Silent_p.L123L|HNRNPK_ENST00000376264.2_Silent_p.L123L NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 123 2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 ATTCGAGCGGGAGCTGGCTGG 0.458000 9 33 0 0 6.40141e-05 0 0 HBE1 3046 broad.mit.edu 37 11 5290859 5290859 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr11:5290859C>T ENST00000380237.1 - 4 484 c.140G>A c.(139-141)gGa>gAa p.G47E HBE1_ENST00000292896.2_Missense_Mutation_p.G47E|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 47 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGACAGGTTTCCAAAGCTGTC 0.453000 17 50 0 0 0.000229342 0 0 FLG 2312 broad.mit.edu 37 1 152284501 152284501 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:152284501C>T ENST00000368799.1 - 3 2896 c.2861G>A c.(2860-2862)gGa>gAa p.G954E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 954 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) TTCTGAATGTCCCTCACTGTC 0.572000 Ichthyosis 10 269 0 0 0.000566183 0 0 PTPRB 5787 broad.mit.edu 37 12 70986321 70986321 + Silent SNP G G T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:70986321G>T ENST00000334414.6 - 7 1565 c.1521C>A c.(1519-1521)ccC>ccA p.P507P PTPRB_ENST00000538708.1_Silent_p.P289P|PTPRB_ENST00000550857.1_Silent_p.P289P|PTPRB_ENST00000550358.1_Silent_p.P507P|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Silent_p.P289P|PTPRB_ENST00000451516.2_Silent_p.P289P|PTPRB_ENST00000551525.1_Silent_p.P506P NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 289 Fibronectin type-III 6. 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) AGACTTCCATGGGGGCTAATC 0.403000 23 39 3.01185e-09 6.14851e-08 0.000586117 1 0 PKDREJ 10343 broad.mit.edu 37 22 46658038 46658038 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr22:46658038C>T ENST00000253255.5 - 1 1181 c.1182G>A c.(1180-1182)ggG>ggA p.G394G NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 394 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CTTCCTTGCTCCCCAGGATTA 0.562000 21 70 0 0 0.00047179 0 0 ITIH2 3698 broad.mit.edu 37 10 7786092 7786092 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:7786092G>A ENST00000358415.4 + 18 2423 c.2257G>A c.(2257-2259)Gga>Aga p.G753R ITIH2_ENST00000379587.4_Missense_Mutation_p.G742R NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 753 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GCCCAACAATGGAAAACTAAG 0.388000 17 25 0 0 9.7654e-05 0 0 SPAG17 200162 broad.mit.edu 37 1 118550793 118550793 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:118550793C>T ENST00000336338.5 - 31 4526 c.4461G>A c.(4459-4461)caG>caA p.Q1487Q NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1487 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TACACTTCACCTGCCTGGTGA 0.488000 7 36 0 0 0.000157383 0 0 ABCC9 10060 broad.mit.edu 37 12 21954097 21954097 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr12:21954097G>A ENST00000261200.4 - 38 4530 c.4531C>T c.(4531-4533)Ctg>Ttg p.L1511L NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1511 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCTGCCGTCAGAATAGTGTGT 0.378000 21 45 0 0 0.000117367 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325337 47325337 + RNA SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:47325337G>A ENST00000505841.1 - 0 1192 NR_002788.2 TGCAGGTAAGGAGCGTCCATC 0.403000 13 61 0 0 0.000566183 0 0 TACC2 10579 broad.mit.edu 37 10 123971035 123971035 + Silent SNP A A G TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr10:123971035A>G ENST00000369005.1 + 9 7435 c.7095A>G c.(7093-7095)caA>caG p.Q2365Q TACC2_ENST00000515273.1_Silent_p.Q2369Q|TACC2_ENST00000515603.1_Silent_p.Q2320Q|TACC2_ENST00000369001.1_Silent_p.Q69Q|TACC2_ENST00000334433.3_Silent_p.Q2365Q|TACC2_ENST00000453444.2_Silent_p.Q2369Q|TACC2_ENST00000369000.1_Silent_p.Q69Q|TACC2_ENST00000513429.1_Silent_p.Q511Q|TACC2_ENST00000369004.3_Silent_p.Q443Q|TACC2_ENST00000358010.1_Silent_p.Q511Q|TACC2_ENST00000368999.1_Silent_p.Q443Q|TACC2_ENST00000260733.3_Silent_p.Q443Q|TACC2_ENST00000360561.3_Silent_p.Q443Q NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2365 SPAZ. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGCCCCAACAATCATACAACT 0.463000 55 147 0 0 0.000147903 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036637 13036637 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:13036637C>T ENST00000376187.1 + 2 709 c.709C>T c.(709-711)Cgc>Tgc p.R237C PRAMEF6_ENST00000376192.5_Intron NM_001100631.1 NP_001094101.1 A3QJZ6 PRA22_HUMAN PRAME family member 22 237 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 GAGGAATCTTCGCAAACTCTT 0.473000 25 195 0 0 0.000339439 0 0 ARID5A 10865 broad.mit.edu 37 2 97217379 97217379 + Missense_Mutation SNP T T A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:97217379T>A ENST00000454558.2 + 7 2087 c.910T>A c.(910-912)Ttg>Atg p.L304M ARID5A_ENST00000357485.3_Missense_Mutation_p.L372M Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 372 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 TGGGGTGCTATTGGGGCCTCC 0.592000 5 9 0 0 3.59834e-05 0 0 DGKE 8526 broad.mit.edu 37 17 54939580 54939580 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr17:54939580C>T ENST00000284061.3 + 11 1672 c.1492C>T c.(1492-1494)Cct>Tct p.P498S NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 498 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) ACTGGCTAATCCTTTTCGAAT 0.393000 8 38 0 0 6.40141e-05 0 0 COL7A1 1294 broad.mit.edu 37 3 48613092 48613092 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr3:48613092C>T ENST00000328333.8 - 72 6053 c.5946G>A c.(5944-5946)ggG>ggA p.G1982G COL7A1_ENST00000454817.1_Silent_p.G1950G NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1982 Triple-helical region. G -> W (in HS-DEB). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGCCTGAGTCCCCCTTGGGGC 0.647000 5 37 0 0 3.59834e-05 0 0 ITGA4 3676 broad.mit.edu 37 2 182360646 182360646 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:182360646G>A ENST00000397033.2 + 14 1952 c.1522G>A c.(1522-1524)Gaa>Aaa p.E508K NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 508 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TAAGGGCAAGGAAGTTCCAGG 0.443000 17 64 0 0 0.000229342 0 0 SLC9C2 284525 broad.mit.edu 37 1 173499164 173499164 + Silent SNP T T A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:173499164T>A ENST00000367714.3 - 18 2615 c.2193A>T c.(2191-2193)gcA>gcT p.A731A SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 731 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TCTGCACATCTGCAATTCTTA 0.343000 16 46 0 0 0.000422831 0 0 JAG1 182 broad.mit.edu 37 20 10629243 10629243 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr20:10629243C>T ENST00000254958.5 - 12 2038 c.1523G>A c.(1522-1524)aGa>aAa p.R508K JAG1_ENST00000423891.2_Missense_Mutation_p.R349K NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 508 EGF-like 8; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 ACACTGGAATCTGTTGATTTC 0.512000 Alagille Syndrome 12 31 0 0 0.000151284 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170180 207170180 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:207170180C>T ENST00000374423.3 + 5 1314 c.928C>T c.(928-930)Ccg>Tcg p.P310S NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 310 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 AGCAGTAAACCCGAATAAAAC 0.373000 8 43 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179613640 179613640 + Missense_Mutation SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr2:179613640G>A ENST00000360870.5 - 46 13709 c.13487C>T c.(13486-13488)tCa>tTa p.S4496L TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 626 Ig-like 25. 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) TTGCTTTAATGAAAAGGCTTT 0.318000 18 71 0 0 7.07596e-05 0 0 CDH20 28316 broad.mit.edu 37 18 59174790 59174790 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr18:59174790G>A ENST00000262717.4 + 6 1412 c.1014G>A c.(1012-1014)aaG>aaA p.K338K CDH20_ENST00000536675.2_Silent_p.K338K|CDH20_ENST00000538374.1_Silent_p.K338K Q9HBT6 CAD20_HUMAN cadherin 20, type 2 338 Cadherin 3. 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) TAACTGTGAAGAAGGTAATCC 0.368000 7 40 0 0 0.000157383 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 7 218 --- --- --- --- JAK2 3717 broad.mit.edu 37 9 5055745 5055745 + Frame_Shift_Del DEL A A - TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:5055745delA ENST00000381652.3 + 8 1507 c.1013delA c.(1012-1014)gafs p.E338fs JAK2_ENST00000544510.1_Frame_Shift_Del_p.E189fs|JAK2_ENST00000539801.1_Frame_Shift_Del_p.E338fs NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 338 FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) GGTTCAAATGAAAGCCGAGTT 0.294 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 11 24 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 3 3 --- --- --- --- ABCC6P1 653190 broad.mit.edu 37 16 18593648 18593649 + RNA INS - - A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr16:18593648_18593649insA ENST00000546162.2 + 0 805 NR_003569.1 accctgtctcgaaaaaaaaaaa 0.505 3 6 --- --- --- --- LOC101060604 101060604 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 028bca79-1c1c-43b4-9076-63516255f81d ff8b8f87-3191-4f84-b85b-28cf388044b4 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 2 4 --- --- --- ---