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 EFNB1 1947 broad.mit.edu 37 X 68060218 68060218 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:68060218C>T ENST00000204961.4 + 5 1542 c.762C>T c.(760-762)atC>atT p.I254I NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 254 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 TCCTGCTCATCATCATCTTCC 0.617000 7 33 0 0 0.001984 0 0 ZNF835 90485 broad.mit.edu 37 19 57175063 57175063 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:57175063G>A ENST00000537055.2 - 2 1735 c.1504C>T c.(1504-1506)Cgc>Tgc p.R502C NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGGCAAAGGCGTCCCGAACTG 0.647000 21 169 0 0 0.002299 0 0 PTK7 5754 broad.mit.edu 37 6 43109431 43109431 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:43109431G>A ENST00000230419.4 + 11 1865 c.1644G>A c.(1642-1644)gtG>gtA p.V548V PTK7_ENST00000352931.2_Silent_p.V548V|PTK7_ENST00000349241.2_Silent_p.V418V|PTK7_ENST00000481273.1_Silent_p.V556V|PTK7_ENST00000345201.2_Silent_p.V508V NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 548 Ig-like C2-type 6. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CAGAGTGGGTGACAGACAACG 0.572000 9 135 0 0 0.006214 0 0 FGFR4 2264 broad.mit.edu 37 5 176520438 176520438 + Nonsense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:176520438C>T ENST00000393648.2 + 10 1311 c.1129C>T c.(1129-1131)Caa>Taa p.Q377* FGFR4_ENST00000502906.1_Missense_Mutation_p.S428L|FGFR4_ENST00000292408.4_Missense_Mutation_p.S428L|FGFR4_ENST00000393637.1_Missense_Mutation_p.S388L|FGFR4_ENST00000292410.3_Missense_Mutation_p.S388L P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 0 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TCCGGCAAGTCAAGCTCATCC 0.622000 TSP Lung(9;0.080) 15 124 0 0 0.002450 0 0 USP48 84196 broad.mit.edu 37 1 22032648 22032648 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:22032648G>C ENST00000308271.9 - 18 2892 c.2244C>G c.(2242-2244)ttC>ttG p.F748L USP48_ENST00000374732.3_Missense_Mutation_p.F286L|USP48_ENST00000529637.1_Missense_Mutation_p.F760L|USP48_ENST00000400301.1_Missense_Mutation_p.F748L NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 748 DUSP 3. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CTTCTACAAAGAACTGAGACA 0.343000 3 49 0 0 0.000248 0 0 MORC2 22880 broad.mit.edu 37 22 31328534 31328534 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:31328534G>C ENST00000215862.4 - 24 3922 c.2559C>G c.(2557-2559)ctC>ctG p.L853L MORC2_ENST00000397641.2_Silent_p.L915L NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 915 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 ACATGTACCGGAGGATCTGGA 0.562000 13 61 0 0 0.001368 0 0 USP47 55031 broad.mit.edu 37 11 11972026 11972026 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:11972026G>C ENST00000339865.5 + 23 4139 c.3376G>C c.(3376-3378)Gat>Cat p.D1126H USP47_ENST00000399455.2_Missense_Mutation_p.D1214H|USP47_ENST00000527733.1_Missense_Mutation_p.D1194H|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000305481.6_3'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 1214 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TGAAGTTCTTGATGGTATTTT 0.318000 7 73 0 0 0.004482 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120291464 120291464 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:120291464C>G ENST00000397843.2 + 5 368 c.202C>G c.(202-204)Ctt>Gtt p.L68V ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L49V|ARHGEF12_ENST00000532993.1_5'UTR NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 68 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TTGTGCAGGTCTTGTTCAGCG 0.403000 T MLL AML 4 34 0 0 0.000248 0 0 C10orf120 399814 broad.mit.edu 37 10 124457724 124457724 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:124457724C>A ENST00000329446.4 - 3 564 c.533G>T c.(532-534)gGa>gTa p.G178V NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 178 p.G178E(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) CTGATGATTTCCCAGAGCCCG 0.507000 17 104 1.96292e-10 2.97823e-10 0.001523 1 0 TTLL3 26140 broad.mit.edu 37 3 9870813 9870813 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:9870813G>A ENST00000383827.1 + 4 2933 c.652G>A c.(652-654)Gat>Aat p.D218N TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000397241.1_Missense_Mutation_p.D218N|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.D491N|TTLL3_ENST00000547186.1_Missense_Mutation_p.D430N|TTLL3_ENST00000426895.4_Missense_Mutation_p.D573N|TTLL3_ENST00000430793.1_Missense_Mutation_p.D218N|TTLL3_ENST00000427853.3_Missense_Mutation_p.D218N|TTLL3_ENST00000455274.1_Missense_Mutation_p.D218N Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 430 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TGGCATGAAGGATGCTGTGAT 0.587000 6 34 0 0 0.001168 0 0 STIP1 10963 broad.mit.edu 37 11 63971032 63971032 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:63971032G>C ENST00000358794.5 + 13 2191 c.1638G>C c.(1636-1638)atG>atC p.M546I STIP1_ENST00000538945.1_Missense_Mutation_p.M475I|STIP1_ENST00000305218.4_Missense_Mutation_p.M499I P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 499 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 AGCAGATCATGAGTGACCCAG 0.597000 5 42 0 0 0.000602 0 0 TMEM133 83935 broad.mit.edu 37 11 100863119 100863119 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:100863119G>T ENST00000303130.2 + 1 309 c.80G>T c.(79-81)tGt>tTt p.C27F NM_032021.2 NP_114410.1 Q9H2Q1 TM133_HUMAN transmembrane protein 133 27 integral to membrane kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) CTTGACTATTGTCCAGAAGTT 0.438000 23 77 3.5997e-14 5.577e-14 0.002299 1 0 MT1X 4501 broad.mit.edu 37 16 56716476 56716476 + Silent SNP G G A rs147291148 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:56716476G>A ENST00000562939.1 + 1 95 c.24G>A c.(22-24)tcG>tcA p.S8S MT1X_ENST00000394485.4_Silent_p.S8S|RP11-343H19.2_ENST00000567563.1_RNA P80297 MT1X_HUMAN metallothionein 1X 8 Beta. response to metal ion metal ion binding kidney(2) 2 GCTCCTGCTCGCCTGGTAAGG 0.557000 20 161 0 0 0.001523 0 0 HNRNPK 3190 broad.mit.edu 37 9 86587088 86587088 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:86587088C>T ENST00000376263.3 - 11 885 c.662G>A c.(661-663)cGt>cAt p.R221H HNRNPK_ENST00000351839.3_Missense_Mutation_p.R221H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R221H|HNRNPK_ENST00000376264.2_Missense_Mutation_p.R221H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R221H NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 221 2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|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 AGGCTGTGCACGTCCTTTGAT 0.418000 6 41 0 0 0.001984 0 0 FLT1 2321 broad.mit.edu 37 13 28885795 28885795 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr13:28885795G>A ENST00000282397.4 - 27 3818 c.3567C>T c.(3565-3567)ttC>ttT p.F1189F FLT1_ENST00000543394.1_Silent_p.F212F|FLT1_ENST00000540678.1_Silent_p.F407F NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1189 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGTCCTCAGAGAAGGCAGGAG 0.398000 6 28 0 0 0.001168 0 0 THAP9 79725 broad.mit.edu 37 4 83827511 83827511 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:83827511G>C ENST00000302236.5 + 3 362 c.311G>C c.(310-312)aGa>aCa p.R104T NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 104 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) GGTAAAGCAAGACAAAAAATC 0.318000 7 115 0 0 0.001984 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144070344 144070344 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:144070344C>T ENST00000056217.5 + 10 4281 c.4107C>T c.(4105-4107)atC>atT p.I1369I ARHGEF5_ENST00000471847.2_Silent_p.I291I NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 1369 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) AGGAACTAATCTACCTGAGCC 0.532000 13 198 0 0 0.002450 0 0 OR51M1 390059 broad.mit.edu 37 11 5411219 5411219 + Missense_Mutation SNP A A G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:5411219A>G ENST00000328611.3 + 1 613 c.591A>G c.(589-591)atA>atG p.I197M HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 197 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAAGTGATACAGCTGGCCT 0.507000 11 136 0 0 0.000978 0 0 SLC39A6 25800 broad.mit.edu 37 18 33692482 33692482 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:33692482C>T ENST00000269187.5 - 8 2119 c.1906G>A c.(1906-1908)Gag>Aag p.E636K SLC39A6_ENST00000590986.1_Missense_Mutation_p.E636K|SLC39A6_ENST00000440549.2_Missense_Mutation_p.E361K NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 636 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 TGAGGCAACTCATGACAGAAC 0.378000 6 147 0 0 0.003080 0 0 PTPRU 10076 broad.mit.edu 37 1 29618506 29618506 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:29618506C>T ENST00000323874.8 + 15 2554 c.2444C>T c.(2443-2445)tCc>tTc p.S815F PTPRU_ENST00000460170.2_Missense_Mutation_p.S815F|PTPRU_ENST00000428026.2_Missense_Mutation_p.S815F|PTPRU_ENST00000345512.3_Missense_Mutation_p.S825F|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.S815F|PTPRU_ENST00000356870.3_Missense_Mutation_p.S815F Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 825 Mediates interaction with CTNNB1 (By similarity). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CTGGGCCTGTCCTTCATGGAC 0.632000 7 72 0 0 0.006214 0 0 RBL2 5934 broad.mit.edu 37 16 53504409 53504409 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:53504409G>C ENST00000262133.6 + 16 2497 c.2360G>C c.(2359-2361)gGa>gCa p.G787A RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 787 Pocket; binds E1A.|Spacer. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GCCCTGGCTGGAAGTCTGAGC 0.552000 7 67 0 0 0.003080 0 0 LSM3 27258 broad.mit.edu 37 3 14223145 14223145 + Missense_Mutation SNP A A T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:14223145A>T ENST00000306024.3 + 2 610 c.107A>T c.(106-108)gAc>gTc p.D36V NM_014463.2 NP_055278.1 P62310 LSM3_HUMAN LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) 36 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay catalytic step 2 spliceosome|cytosol protein binding|RNA binding central_nervous_system(1)|large_intestine(2)|ovary(1) 4 ATGAGAAATGACCGAGAGCTT 0.413000 17 101 0 0 0.004007 0 0 EIF4G1 1981 broad.mit.edu 37 3 184040362 184040362 + Nonsense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:184040362C>T ENST00000342981.4 + 11 2053 c.1639C>T c.(1639-1641)Cag>Tag p.Q547* EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.Q547*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.Q460*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.Q554*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.Q507*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.Q554*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.Q547*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.Q383*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.Q554*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.Q351*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.Q351*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.Q383*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.Q507*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.Q460* NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 547 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGTGGAAAATCAGCCTCCTGC 0.557000 4 31 0 0 0.000248 0 0 UBXN1 51035 broad.mit.edu 37 11 62445299 62445299 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:62445299C>G ENST00000294119.2 - 6 619 c.488G>C c.(487-489)aGa>aCa p.R163T UBXN1_ENST00000533000.1_Missense_Mutation_p.R21T|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.R163T|UBXN1_ENST00000529640.1_Missense_Mutation_p.R159T NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 163 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 TTCTCTAACTCTTTGTCTGAA 0.438000 10 75 0 0 0.006214 0 0 MATN4 8785 broad.mit.edu 37 20 43926892 43926892 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:43926892G>A ENST00000537548.1 - 8 1588 c.1344C>T c.(1342-1344)aaC>aaT p.N448N MATN4_ENST00000342716.4_Silent_p.N448N|MATN4_ENST00000372756.1_Silent_p.N448N|MATN4_ENST00000360607.5_Silent_p.N407N|MATN4_ENST00000353917.5_Silent_p.N366N|MATN4_ENST00000372751.4_Silent_p.N299N|MATN4_ENST00000372754.1_Silent_p.N489N|MATN4_ENST00000372753.1_Silent_p.N299N O95460 MATN4_HUMAN matrilin 4 489 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) CACGAGGCACGTTAAGGGCAC 0.657000 5 62 0 0 0.000602 0 0 FKBP6 8468 broad.mit.edu 37 7 72744349 72744349 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:72744349C>T ENST00000252037.4 + 4 531 c.462C>T c.(460-462)ctC>ctT p.L154L FKBP6_ENST00000413573.2_Silent_p.L124L|FKBP6_ENST00000431982.2_Silent_p.L149L NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 154 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) TTTGTGCTCTCTCAGCTGTAA 0.498000 10 75 0 0 0.006214 0 0 CNP 1267 broad.mit.edu 37 17 40125654 40125654 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:40125654G>A ENST00000393892.2 + 4 1122 c.978G>A c.(976-978)ggG>ggA p.G326G CNP_ENST00000393888.1_Silent_p.G306G|CNP_ENST00000591072.1_Silent_p.G91G|CNP_ENST00000472031.1_3'UTR NM_033133.4 NP_149124.3 P09543 CN37_HUMAN 2',3'-cyclic nucleotide 3' phosphodiesterase 326 cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission extracellular space|melanosome 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 9 all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143) UCEC - Uterine corpus endometrioid carcinoma (308;0.171) TGCCGCGGGGGAGCCGCGCCC 0.647000 9 79 0 0 0.004482 0 0 SOX7 83595 broad.mit.edu 37 8 10583724 10583724 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:10583724G>A ENST00000304501.1 - 2 769 c.691C>T c.(691-693)Ccc>Tcc p.P231S SOX7_ENST00000554914.1_Missense_Mutation_p.P283S|SOX7_ENST00000553390.1_Missense_Mutation_p.P283S NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 231 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) ATGCGGCGGGGATGGCCATGC 0.687000 9 41 0 0 0.000978 0 0 ZNF107 51427 broad.mit.edu 37 7 64168600 64168600 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:64168600G>A ENST00000395391.1 + 4 3293 c.1918G>A c.(1918-1920)Gaa>Aaa p.E640K ZNF107_ENST00000344930.3_Missense_Mutation_p.E640K|ZNF107_ENST00000423627.1_Missense_Mutation_p.E640K Q9UII5 ZN107_HUMAN zinc finger protein 107 640 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CCAATGTGCAGAATGTGGCAA 0.373000 5 48 0 0 0.001168 0 0 DENND2A 27147 broad.mit.edu 37 7 140221722 140221722 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:140221722G>A ENST00000275884.6 - 17 3261 c.2844C>T c.(2842-2844)gtC>gtT p.V948V DENND2A_ENST00000496613.1_Silent_p.V948V|DENND2A_ENST00000537639.1_Silent_p.V948V Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 948 dDENN. 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) TCTCCATGAAGACCTCCAGGA 0.617000 4 47 0 0 0.000248 0 0 AHR 196 broad.mit.edu 37 7 17367416 17367416 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:17367416G>A ENST00000242057.4 + 4 1037 c.394G>A c.(394-396)Gat>Aat p.D132N NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 132 PAS 1. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TGTCACTACAGATGCTTTGGT 0.279000 10 108 0 0 0.000978 0 0 AAAS 8086 broad.mit.edu 37 12 53709147 53709147 + Missense_Mutation SNP A A G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:53709147A>G ENST00000209873.4 - 4 536 c.371T>C c.(370-372)cTc>cCc p.L124P AAAS_ENST00000394384.3_Missense_Mutation_p.L124P|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_5'UTR NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 124 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 GGACCCATGGAGGGAAGAGGC 0.562000 4 25 0 0 0.001168 0 0 OXTR 5021 broad.mit.edu 37 3 8809434 8809434 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:8809434G>A ENST00000316793.3 - 3 1064 c.440C>T c.(439-441)tCg>tTg p.S147L CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 147 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GCGGCGCAGCGAGCGCAGCGG 0.692000 4 24 0 0 0.000602 0 0 LCP2 3937 broad.mit.edu 37 5 169683535 169683535 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:169683535G>C ENST00000046794.5 - 17 1760 c.1145C>G c.(1144-1146)tCt>tGt p.S382C LCP2_ENST00000521416.1_Missense_Mutation_p.S177C NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 382 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) CAAACCTTGAGAGAAGTATGG 0.453000 4 63 0 0 0.000602 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99217442 99217442 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:99217442G>A ENST00000394152.2 + 4 540 c.213G>A c.(211-213)ctG>ctA p.L71L ZSCAN25_ENST00000334715.3_Silent_p.L71L|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000262941.6_Silent_p.L71L NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 GTCGGTGGCTGAGGCCCGAGT 0.622000 16 90 0 0 0.004990 0 0 RBM4 5936 broad.mit.edu 37 11 66407528 66407528 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:66407528G>C ENST00000409406.1 + 1 1123 c.346G>C c.(346-348)Gta>Cta p.V116L RBM4_ENST00000503028.2_Missense_Mutation_p.V116L|RBM4_ENST00000578778.1_Missense_Mutation_p.V116L|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Missense_Mutation_p.V116L|RBM4_ENST00000483858.1_Missense_Mutation_p.V116L|RBM4_ENST00000310092.7_Missense_Mutation_p.V116L|RBM4_ENST00000396053.4_Missense_Mutation_p.V116L|RBM4_ENST00000532968.1_Missense_Mutation_p.V116L|RBM4_ENST00000506523.2_Missense_Mutation_p.V116L|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.V116L|RBM4_ENST00000408993.2_Missense_Mutation_p.V116L|RBM14-RBM4_ENST00000412278.2_Intron RNA binding motif protein 4 endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) TTATGCCTTCGTACACATGGA 0.527000 12 109 0 0 0.002450 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504343 151504343 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:151504343C>T ENST00000317605.4 + 1 1267 c.162C>T c.(160-162)agC>agT p.S54S LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 54 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GCTTCATCAGCTCCTTGAGCG 0.587000 6 27 0 0 0.001168 0 0 HGF 3082 broad.mit.edu 37 7 81335005 81335005 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:81335005C>T ENST00000222390.5 - 16 2048 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K HGF_ENST00000457544.2_Missense_Mutation_p.E603K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 608 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CTGGTCTTTTCAGGAATTGTG 0.358000 4 35 0 0 0.000602 0 0 CCDC138 165055 broad.mit.edu 37 2 109415023 109415023 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:109415023G>A ENST00000295124.4 + 6 776 c.716G>A c.(715-717)aGa>aAa p.R239K CCDC138_ENST00000412964.2_Missense_Mutation_p.R239K NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 239 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 GTTCTTACAAGATTTCAAATT 0.303000 6 58 0 0 0.001984 0 0 AGL 178 broad.mit.edu 37 1 100358154 100358154 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:100358154C>G ENST00000294724.4 + 24 3728 c.3250C>G c.(3250-3252)Cta>Gta p.L1084V AGL_ENST00000370161.2_Missense_Mutation_p.L1068V|AGL_ENST00000361522.4_Missense_Mutation_p.L1067V|AGL_ENST00000370163.3_Missense_Mutation_p.L1084V|AGL_ENST00000370165.3_Missense_Mutation_p.L1084V|AGL_ENST00000361302.3_Missense_Mutation_p.L1068V|AGL_ENST00000361915.3_Missense_Mutation_p.L1084V NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1084 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTGTGTTTCTCTAGCTGCAGG 0.343000 4 23 0 0 0.000602 0 0 WDFY3 23001 broad.mit.edu 37 4 85722828 85722828 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:85722828G>C ENST00000322366.6 - 17 3204 c.2797C>G c.(2797-2799)Cag>Gag p.Q933E WDFY3_ENST00000295888.4_Missense_Mutation_p.Q933E Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 933 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCAGAGCCTGAGAGGCTAAT 0.483000 10 94 0 0 0.001368 0 0 CCR6 1235 broad.mit.edu 37 6 167550322 167550322 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:167550322C>A ENST00000341935.5 + 3 1156 c.604C>A c.(604-606)Cag>Aag p.Q202K CCR6_ENST00000400926.2_Missense_Mutation_p.Q202K|CCR6_ENST00000349984.4_Missense_Mutation_p.Q202K NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 202 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) ACCCAAGTACCAGACTGTCTC 0.468000 8 69 0.00448238 0.00634163 0.004482 1 0 MEGF10 84466 broad.mit.edu 37 5 126792896 126792896 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:126792896G>A ENST00000274473.6 + 26 3576 c.3309G>A c.(3307-3309)aaG>aaA p.K1103K MEGF10_ENST00000503335.2_Silent_p.K1103K NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1103 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACCTCCCAAAGAACAGTCACA 0.488000 11 110 0 0 0.000978 0 0 ADGRG1 9289 broad.mit.edu 37 16 57689439 57689439 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:57689439C>T ENST00000562631.1 + 6 1429 c.897C>T c.(895-897)ttC>ttT p.F299F GPR56_ENST00000568909.1_Silent_p.F299F|GPR56_ENST00000540164.2_Silent_p.F299F|GPR56_ENST00000544297.1_Silent_p.F124F|GPR56_ENST00000379694.4_Silent_p.F129F|GPR56_ENST00000388812.4_Silent_p.F299F|GPR56_ENST00000568908.1_Silent_p.F299F|GPR56_ENST00000379696.3_Silent_p.F299F|GPR56_ENST00000567835.1_Silent_p.F299F|GPR56_ENST00000456916.1_Silent_p.F299F|GPR56_ENST00000562558.1_Silent_p.F299F|GPR56_ENST00000538815.1_Silent_p.F299F|GPR56_ENST00000388813.5_Silent_p.F299F Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 299 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 AAGCCCTGTTCCAGGTATGGG 0.582000 5 41 0 0 0.001168 0 0 MACF1 23499 broad.mit.edu 37 1 39889739 39889739 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:39889739G>A ENST00000564288.1 + 61 16966 c.16189G>A c.(16189-16191)Gac>Aac p.D5397N MACF1_ENST00000372915.3_Missense_Mutation_p.D5402N|MACF1_ENST00000317713.7_Missense_Mutation_p.D3335N|MACF1_ENST00000361689.2_Missense_Mutation_p.D3335N|MACF1_ENST00000539005.1_Missense_Mutation_p.D3314N|MACF1_ENST00000567887.1_Missense_Mutation_p.D5434N|MACF1_ENST00000545844.1_Missense_Mutation_p.D3335N|MACF1_ENST00000289893.4_Missense_Mutation_p.D3837N Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5402 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCCACAGTAGACATGCTTCA 0.448000 5 64 0 0 0.001168 0 0 AKT2 208 broad.mit.edu 37 19 40745969 40745969 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:40745969T>C ENST00000392038.2 - 7 920 c.622A>G c.(622-624)Agg>Ggg p.R208G AKT2_ENST00000579047.1_Missense_Mutation_p.R146G|AKT2_ENST00000424901.1_Missense_Mutation_p.R208G|AKT2_ENST00000311278.6_Missense_Mutation_p.R208G NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 208 Protein kinase. R -> K (in dbSNP:rs35817154). insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) AACGGGTGCCTGGTGTTCTGG 0.602000 A """ovarian, pancreatic """ 4 236 0 0 0.001168 0 0 CBY1 25776 broad.mit.edu 37 22 39069240 39069240 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:39069240G>A ENST00000216029.3 + 5 514 c.380G>A c.(379-381)tGa>tAa p.*127* RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA NM_015373.3 NP_056188.1 Q9Y3M2 CBY1_HUMAN chibby homolog 1 (Drosophila) 0 cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization nuclear speck|trans-Golgi network beta-catenin binding|identical protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 Melanoma(58;0.04) AAGAGAAAATGAAGACCCCAG 0.458000 8 38 0 0 0.004482 0 0 ATXN1 6310 broad.mit.edu 37 6 16327156 16327156 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:16327156G>A ENST00000244769.4 - 8 2322 c.1386C>T c.(1384-1386)atC>atT p.I462I ATXN1_ENST00000436367.1_Silent_p.I462I NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 462 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TCAGGTAGCCGATGACAGGGG 0.657000 21 154 0 0 0.008871 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820418 179820418 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:179820418C>T ENST00000367612.3 - 4 502 c.115G>A c.(115-117)Gaa>Aaa p.E39K NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 39 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 ATCTCAGCTTCTTCAGCATTA 0.413000 8 85 0 0 0.003080 0 0 PLK4 10733 broad.mit.edu 37 4 128802317 128802317 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:128802317G>C ENST00000270861.5 + 1 302 c.28G>C c.(28-30)Gag>Cag p.E10Q PLK4_ENST00000515069.1_Missense_Mutation_p.E10Q|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000513090.1_Missense_Mutation_p.E10Q|PLK4_ENST00000507249.1_Missense_Mutation_p.E10Q NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 10 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 GGAGAAGATCGAGGTGAAAAG 0.607000 4 41 0 0 0.000248 0 0 ELF3 1999 broad.mit.edu 37 1 201980376 201980376 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:201980376G>C ENST00000359651.3 + 1 3304 c.112G>C c.(112-114)Gat>Cat p.D38H ELF3_ENST00000367284.5_Missense_Mutation_p.D38H|ELF3_ENST00000367283.3_Missense_Mutation_p.D38H|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 38 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CTTTGGGGCCGATGACTTGGT 0.572000 8 90 0 0 0.003080 0 0 ASXL3 80816 broad.mit.edu 37 18 31319901 31319901 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:31319901G>A ENST00000269197.5 + 11 2533 c.2533G>A c.(2533-2535)Gag>Aag p.E845K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 845 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 TGTTGACACTGAGAAGCCCTA 0.393000 6 36 0 0 0.001984 0 0 OTP 23440 broad.mit.edu 37 5 76932712 76932712 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:76932712G>C ENST00000306422.3 - 2 1519 c.381C>G c.(379-381)caC>caG p.H127Q OTP_ENST00000515716.1_5'UTR NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 127 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) TGTCGGGGTAGTGAGTCTTGG 0.622000 15 123 0 0 0.003163 0 0 MTRR 4552 broad.mit.edu 37 5 7878244 7878244 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:7878244G>C ENST00000264668.2 + 5 700 c.670G>C c.(670-672)Gat>Cat p.D224H MTRR_ENST00000440940.2_Missense_Mutation_p.D197H|MTRR_ENST00000341013.6_3'UTR NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 224 Hinge. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TCTGAGATTCGATGATTCAGG 0.468000 13 106 0 0 0.002450 0 0 CKAP5 9793 broad.mit.edu 37 11 46819519 46819519 + Splice_Site SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:46819519T>C ENST00000529230.1 - 11 1220 c.1173_splice c.e11-1 p.T392_splice CKAP5_ENST00000532321.1_5'UTR|CKAP5_ENST00000354558.3_Splice_Site_p.T392_splice|CKAP5_ENST00000312055.5_Splice_Site_p.T392_splice|CKAP5_ENST00000415402.1_Splice_Site_p.T392_splice Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 392 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TGTAGTGTGGTCTTTAGAAAG 0.303000 11 63 0 0 0.001368 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755330 140755330 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:140755330C>T ENST00000517434.1 + 1 1680 c.1680C>T c.(1678-1680)ccC>ccT p.P560P PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 p.P560P(1) breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAATGCGCCCGAGATCCTGT 0.657000 29 176 0 0 0.008361 0 0 CDH22 64405 broad.mit.edu 37 20 44869617 44869617 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:44869617C>T ENST00000372262.3 - 2 935 c.535G>A c.(535-537)Gag>Aag p.E179K CDH22_ENST00000537909.1_Missense_Mutation_p.E179K NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 179 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GGTGAGAGCTCGGCCACGCTG 0.622000 4 37 0 0 0.000248 0 0 DNAH3 55567 broad.mit.edu 37 16 20975656 20975656 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:20975656C>T ENST00000261383.3 - 53 9549 c.9550G>A c.(9550-9552)Gaa>Aaa p.E3184K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3184 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACGGCAACTTCTGGGAGGTAA 0.478000 8 80 0 0 0.003080 0 0 TMEM67 91147 broad.mit.edu 37 8 94767363 94767363 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:94767363G>A ENST00000453321.3 + 1 279 c.221G>A c.(220-222)cGa>cAa p.R74Q TMEM67_ENST00000409623.3_5'UTR NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 74 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) CAAGATGCCCGAGGTAAGACG 0.552000 5 121 0 0 0.001168 0 0 NINL 22981 broad.mit.edu 37 20 25459684 25459684 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:25459684G>A ENST00000278886.6 - 16 2149 c.2076C>T c.(2074-2076)ggC>ggT p.G692G NINL_ENST00000422516.1_Silent_p.G692G NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 692 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GCTCCTGCAGGCCCCAGATGA 0.692000 7 64 0 0 0.004482 0 0 RBBP6 5930 broad.mit.edu 37 16 24573246 24573246 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:24573246G>A ENST00000319715.4 + 10 1485 c.1053G>A c.(1051-1053)caG>caA p.Q351Q RBBP6_ENST00000348022.2_Silent_p.Q351Q|RBBP6_ENST00000381039.3_Silent_p.Q351Q NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 351 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CACTGATTCAGAGGAACCTAC 0.428000 4 58 0 0 0.000248 0 0 HTR4 3360 broad.mit.edu 37 5 147830796 147830796 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:147830796C>G ENST00000354217.2 - 7 1279 c.1116G>C c.(1114-1116)gaG>gaC p.E372D HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.E372D Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0 C -> Y (in dbSNP:rs34826744). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TGGGCAGTTTCTCGAGTTCCT 0.473000 36 322 0 0 0.007835 0 0 C19orf57 79173 broad.mit.edu 37 19 14006310 14006310 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:14006310G>A ENST00000454313.1 - 3 139 c.81C>T c.(79-81)gaC>gaT p.D27D C19orf57_ENST00000591586.1_Silent_p.D27D|C19orf57_ENST00000586783.1_Silent_p.D27D|C19orf57_ENST00000346736.2_Silent_p.D27D Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 27 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCCCATAGAAGTCTCCTAGCC 0.552000 22 177 0 0 0.002299 0 0 GRM5 2915 broad.mit.edu 37 11 88780521 88780521 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:88780521C>T ENST00000418177.2 - 2 887 c.520G>A c.(520-522)Gca>Aca p.A174T GRM5_ENST00000305432.5_Missense_Mutation_p.A174T|GRM5_ENST00000455756.2_Missense_Mutation_p.A174T|GRM5_ENST00000305447.4_Missense_Mutation_p.A174T|GRM5_ENST00000393294.3_Missense_Mutation_p.A174T|GRM5_ENST00000393297.1_Missense_Mutation_p.A174T P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 174 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ATGCTGGTTGCTGAGTAAGCA 0.488000 7 63 0 0 0.001984 0 0 KIRREL3 84623 broad.mit.edu 37 11 126306811 126306811 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:126306811G>C ENST00000525144.2 - 12 1696 c.1447C>G c.(1447-1449)Ctg>Gtg p.L483V KIRREL3_ENST00000525704.2_Missense_Mutation_p.L483V|KIRREL3_ENST00000529097.2_Missense_Mutation_p.L483V|KIRREL3_ENST00000416561.2_5'UTR NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 483 Ig-like C2-type 5. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CTGATGGTCAGGGTGGAGATG 0.617000 4 33 0 0 0.000248 0 0 ZFHX3 463 broad.mit.edu 37 16 72828079 72828079 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:72828079G>C ENST00000268489.5 - 9 9174 c.8502C>G c.(8500-8502)gaC>gaG p.D2834E ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1920E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2834 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CAGAGGAACAGTCATCGTTGT 0.468000 31 122 0 0 0.002096 0 0 KLHL30 377007 broad.mit.edu 37 2 239054455 239054455 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:239054455G>C ENST00000409223.1 + 5 1239 c.1132G>C c.(1132-1134)Gag>Cag p.E378Q KLHL30_ENST00000305959.4_Missense_Mutation_p.E360Q Q0D2K2 KLH30_HUMAN kelch-like family member 30 378 lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCTCAATGGGGAGATCTACGT 0.662000 3 22 0 0 0.004672 0 0 HOXB6 3216 broad.mit.edu 37 17 46674022 46674022 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:46674022C>A ENST00000484302.2 - 3 1050 c.428G>T c.(427-429)gGg>gTg p.G143V HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.G143V|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000477144.1_RNA P17509 HXB6_HUMAN homeobox B6 143 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 GCCGCTGGGCCCAAAGGAGGA 0.652000 8 80 0.000157383 0.000224833 0.003080 1 0 RP11-50E11.3 0 broad.mit.edu 37 10 52389558 52389558 + RNA SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:52389558G>C ENST00000443374.1 + 0 251 AACTGTCTCAGATGGACTATC 0.463000 8 51 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179462356 179462356 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:179462356C>G ENST00000589042.1 - 294 57677 c.57453G>C c.(57451-57453)aaG>aaC p.K19151N TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K17510N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K10278N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K10211N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K10086N|TTN_ENST00000342992.6_Missense_Mutation_p.K16583N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17510 Ig-like 108. 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) TCTGGCAGTTCTTGATGACCA 0.438000 7 73 0 0 0.003080 0 0 OR4C15 81309 broad.mit.edu 37 11 55322305 55322305 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:55322305C>A ENST00000314644.2 + 1 523 c.523C>A c.(523-525)Cgt>Agt p.R175S NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GGCCTATGATCGTTATGTGGC 0.507000 HNSCC(20;0.049) 21 94 1.50039e-11 2.30025e-11 0.001882 1 0 NARFL 64428 broad.mit.edu 37 16 784253 784253 + Nonsense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:784253G>C ENST00000301694.5 - 5 547 c.536C>G c.(535-537)tCa>tGa p.S179* HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000251588.2_Silent_p.V223V|NARFL_ENST00000540986.1_Silent_p.V121V|NARFL_ENST00000568545.1_Silent_p.V121V Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 0 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) AGAAGTCCTTGACCAGGGAGC 0.642000 7 68 0 0 0.001984 0 0 LEF1 51176 broad.mit.edu 37 4 109084728 109084728 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:109084728C>T ENST00000379951.2 - 3 1598 c.410G>A c.(409-411)aGa>aAa p.R137K LEF1_ENST00000510624.1_Missense_Mutation_p.R69K|LEF1_ENST00000265165.1_Missense_Mutation_p.R137K|LEF1_ENST00000438313.2_Missense_Mutation_p.R137K|LEF1_ENST00000512172.1_Missense_Mutation_p.R69K NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 137 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) ACTTACTGTTCTCGGGATGGG 0.383000 8 92 0 0 0.004482 0 0 IL20RA 53832 broad.mit.edu 37 6 137322794 137322794 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:137322794G>A ENST00000367748.1 - 6 1816 c.1230C>T c.(1228-1230)ctC>ctT p.L410L IL20RA_ENST00000541547.1_Silent_p.L472L|IL20RA_ENST00000316649.5_Silent_p.L521L Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 521 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GCTCCTCATAGAGTCTAGATA 0.527000 11 121 0 0 0.000978 0 0 ZDHHC18 84243 broad.mit.edu 37 1 27159094 27159094 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:27159094G>A ENST00000374142.3 + 2 587 c.492G>A c.(490-492)caG>caA p.Q164Q NM_032283.2 NP_115659.1 Q9NUE0 ZDH18_HUMAN zinc finger, DHHC-type containing 18 164 integral to membrane zinc ion binding endometrium(1)|large_intestine(2) 3 all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237) TGGAGAAACAGATCGGTGAGG 0.557000 7 54 0 0 0.001984 0 0 LMO7 4008 broad.mit.edu 37 13 76395416 76395416 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr13:76395416G>C ENST00000357063.3 + 15 3727 c.2467G>C c.(2467-2469)Gaa>Caa p.E823Q LMO7_ENST00000341547.4_Missense_Mutation_p.E489Q|LMO7_ENST00000377534.3_Missense_Mutation_p.E823Q|LMO7_ENST00000526202.1_Missense_Mutation_p.E388Q|LMO7_ENST00000465261.2_Missense_Mutation_p.E538Q|LMO7_ENST00000321797.8_Missense_Mutation_p.E538Q Q8WWI1 LMO7_HUMAN LIM domain 7 823 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GACTGTGTCAGAAGCAAGTTA 0.428000 6 50 0 0 0.001168 0 0 AHNAK 79026 broad.mit.edu 37 11 62289822 62289822 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:62289822G>C ENST00000378024.4 - 5 12341 c.12067C>G c.(12067-12069)Ctg>Gtg p.L4023V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4023 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCTTAGGCAGAGAAACATCC 0.493000 35 238 0 0 0.002836 0 0 OR2V2 285659 broad.mit.edu 37 5 180582116 180582116 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:180582116C>T ENST00000328275.1 + 1 174 c.174C>T c.(172-174)acC>acT p.T58T NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCTTCACACCCCCATGTACT 0.537000 41 167 0 0 0.008740 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32497185 32497185 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:32497185G>C ENST00000327300.7 + 3 735 c.568G>C c.(568-570)Gag>Cag p.E190Q KHDRBS1_ENST00000492989.1_Intron|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 190 KH. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACTGCAGGAAGAGACTGGTGC 0.413000 8 97 0 0 0.003080 0 0 C2orf43 60526 broad.mit.edu 37 2 20939904 20939904 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:20939904C>T ENST00000237822.3 - 5 609 c.530G>A c.(529-531)aGa>aAa p.R177K C2orf43_ENST00000381090.3_Missense_Mutation_p.R177K|C2orf43_ENST00000403006.2_Missense_Mutation_p.R47K|C2orf43_ENST00000541941.1_Missense_Mutation_p.R47K|C2orf43_ENST00000435420.2_Missense_Mutation_p.R129K|C2orf43_ENST00000440866.2_Intron NM_021925.2 NP_068744.1 Q9H6V9 CB043_HUMAN chromosome 2 open reading frame 43 177 endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGGCAATTCTGCCATTGGG 0.403000 9 54 0 0 0.006214 0 0 TMEM26 219623 broad.mit.edu 37 10 63212759 63212759 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:63212759C>G ENST00000399298.3 - 1 449 c.81G>C c.(79-81)gtG>gtC p.V27V TMEM26_ENST00000399293.1_Silent_p.V27V|RP11-809M12.1_ENST00000389640.4_RNA NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 27 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) TCACCTCGGTCACTCGCCAGA 0.632000 18 114 0 0 0.008871 0 0 CARD11 84433 broad.mit.edu 37 7 2953041 2953041 + Missense_Mutation SNP G G A rs149857605 byFrequency TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:2953041G>A ENST00000396946.4 - 22 3302 c.2899C>T c.(2899-2901)Cgc>Tgc p.R967C NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 967 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TAGAAGGCGCGTACCAGGCTG 0.677000 Mis DLBCL 6 67 0 0 0.001984 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879250 39879250 + Missense_Mutation SNP A A G rs783822 by1000genomes TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:39879250A>G ENST00000530275.1 + 1 3100 c.2905A>G c.(2905-2907)Acc>Gcc p.T969A MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 969 Ala-rich. T -> A (in dbSNP:rs783822). central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAGGAGCCCACCTCCCCAGC 0.726000 3 18 0 0 0.004672 0 0 AAMP 14 broad.mit.edu 37 2 219129318 219129318 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:219129318C>A ENST00000248450.4 - 11 1413 c.1243G>T c.(1243-1245)Gtg>Ttg p.V415L AAMP_ENST00000420660.1_Missense_Mutation_p.V396L|AAMP_ENST00000444053.1_Missense_Mutation_p.V416L Q13685 AAMP_HUMAN angio-associated, migratory cell protein 415 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGTCACCACCAGGGAGGCA 0.582000 14 65 9.31168e-06 1.35667e-05 0.001855 1 0 ZNF177 7730 broad.mit.edu 37 19 9491793 9491793 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:9491793G>A ENST00000434737.2 + 5 842 c.786G>A c.(784-786)gaG>gaA p.E262E ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000589262.1_Silent_p.E262E|ZNF177_ENST00000541595.2_Intron Q13360 ZN177_HUMAN zinc finger protein 177 270 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 ATGAACATGAGAAAACTTTCA 0.438000 8 55 0 0 0.003080 0 0 SUSD5 26032 broad.mit.edu 37 3 33194491 33194491 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:33194491C>T ENST00000309558.3 - 5 2050 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 545 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CCGGGGCCTTCCTGTCCAAAG 0.582000 4 16 0 0 0.000248 0 0 MYO3B 140469 broad.mit.edu 37 2 171070933 171070933 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:171070933C>G ENST00000334231.6 + 4 393 c.393C>G c.(391-393)ctC>ctG p.L131L MYO3B_ENST00000409044.3_Silent_p.L122L|MYO3B_ENST00000408978.4_Silent_p.L122L|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 122 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AAGGTCTACTCAGATGTGGCC 0.493000 6 73 0 0 0.003080 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039405 184039405 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:184039405C>T ENST00000342981.4 + 9 1447 c.1033C>T c.(1033-1035)Ctc>Ttc p.L345F EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L345F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L258F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L352F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L305F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L352F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L345F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L181F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L352F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L149F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L149F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L181F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L305F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L258F NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 345 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCCAGTCCTCTCCAGGCTCC 0.527000 14 106 0 0 0.002450 0 0 ARSJ 79642 broad.mit.edu 37 4 114899776 114899776 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:114899776G>A ENST00000315366.7 - 1 1081 c.215C>T c.(214-216)tCc>tTc p.S72F ARSJ_ENST00000541197.1_Missense_Mutation_p.S72F|ARSJ_ENST00000503013.2_5'UTR NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 72 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) CTGGGAGGTGGAAGTTGTGCT 0.502000 13 62 0 0 0.001855 0 0 ERC1 23085 broad.mit.edu 37 12 1221420 1221420 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:1221420C>G ENST00000397203.2 + 6 1763 c.1357C>G c.(1357-1359)Caa>Gaa p.Q453E ERC1_ENST00000360905.4_Missense_Mutation_p.Q453E|ERC1_ENST00000589028.1_Missense_Mutation_p.Q453E|ERC1_ENST00000543086.3_Intron|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.Q453E|ERC1_ENST00000546231.2_Missense_Mutation_p.Q453E Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 453 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GAAAGAGGCTCAATGGGAGGA 0.458000 12 124 0 0 0.002450 0 0 MB21D2 151963 broad.mit.edu 37 3 192516720 192516720 + Nonsense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:192516720G>A ENST00000392452.2 - 2 1251 c.931C>T c.(931-933)Cag>Tag p.Q311* NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 311 p.Q309E(2) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TTGCAGGCCTGATAGGCCTGC 0.557000 5 32 0 0 0.001168 0 0 SLC12A7 10723 broad.mit.edu 37 5 1089171 1089171 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:1089171G>A ENST00000264930.5 - 4 458 c.415C>T c.(415-417)Ctg>Ttg p.L139L NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 139 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GTCAGGCGCAGGAAGAGGATG 0.647000 18 249 0 0 0.008871 0 0 XCR1 2829 broad.mit.edu 37 3 46063107 46063107 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:46063107G>A ENST00000309285.3 - 2 689 c.333C>T c.(331-333)atC>atT p.I111I XCR1_ENST00000542109.1_Silent_p.I111I NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 111 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TGTAGAGGCTGATGGAGAAGA 0.582000 5 12 0 0 0.000602 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1905296 1905296 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:1905296C>A ENST00000518288.1 + 30 4137 c.3974C>A c.(3973-3975)gCc>gAc p.A1325D ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1263D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1297D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A1326D|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1301D O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1326 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) GCCAAGAAAGCCAAGGCCAGC 0.647000 5 49 0.00198382 0.00281574 0.001984 1 0 PNPLA8 50640 broad.mit.edu 37 7 108155227 108155227 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:108155227C>T ENST00000426128.2 - 2 834 c.709G>A c.(709-711)Gaa>Aaa p.E237K PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.E137K|PNPLA8_ENST00000388728.5_Missense_Mutation_p.E237K|PNPLA8_ENST00000422087.1_Missense_Mutation_p.E237K|PNPLA8_ENST00000436062.1_Missense_Mutation_p.E237K|PNPLA8_ENST00000257694.8_Missense_Mutation_p.E237K NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 237 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TTTTTATCTTCAAGTTCTGAT 0.363000 5 34 0 0 0.001168 0 0 PLIN3 10226 broad.mit.edu 37 19 4847846 4847846 + Nonsense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:4847846G>A ENST00000221957.4 - 6 867 c.691C>T c.(691-693)Cag>Tag p.Q231* PLIN3_ENST00000592528.1_Nonsense_Mutation_p.Q219*|PLIN3_ENST00000585479.1_Nonsense_Mutation_p.Q231* NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 231 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) CTCTGTTCCTGCCGCTGCTGC 0.612000 6 25 0 0 0.004482 0 0 OR4D11 219986 broad.mit.edu 37 11 59271749 59271749 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:59271749G>T ENST00000313253.1 + 1 701 c.701G>T c.(700-702)aGg>aTg p.R234M NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GGGGGCAGGAGGAAAGCCATC 0.557000 25 173 1.36565e-18 2.13079e-18 0.002780 1 0 CCDC57 284001 broad.mit.edu 37 17 80085740 80085740 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:80085740C>G ENST00000392347.1 - 16 2430 c.2394G>C c.(2392-2394)caG>caC p.Q798H CCDC57_ENST00000392346.2_Missense_Mutation_p.Q155H|CCDC57_ENST00000389641.4_Missense_Mutation_p.Q798H NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 798 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TGTCTTCTTTCTGCCGAGGTG 0.572000 8 84 0 0 0.000978 0 0 RC3H2 54542 broad.mit.edu 37 9 125642152 125642152 + Splice_Site SNP T T G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:125642152T>G ENST00000373670.1 - 7 1694 c.1093_splice c.e7-1 p.D365_splice RC3H2_ENST00000373665.2_Splice_Site_p.D365_splice|RC3H2_ENST00000335387.5_Splice_Site_p.D365_splice|RC3H2_ENST00000423239.2_Splice_Site_p.D365_splice|RC3H2_ENST00000357244.2_Splice_Site_p.D365_splice Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 365 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGAAACAGCGTCTAAAATAAG 0.398000 4 41 0 0 0.000248 0 0 OR52L1 338751 broad.mit.edu 37 11 6007326 6007326 + Missense_Mutation SNP T T A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:6007326T>A ENST00000332249.4 - 1 889 c.835A>T c.(835-837)Act>Tct p.T279S NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGCGGTGAGTGAGGAAGGAG 0.502000 10 59 0 0 0.008291 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74834796 74834796 + Nonsense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:74834796C>G ENST00000370895.1 + 16 1750 c.1715C>G c.(1714-1716)tCa>tGa p.S572* RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Nonsense_Mutation_p.S572*|FPGT-TNNI3K_ENST00000370899.3_Nonsense_Mutation_p.S572*|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.S471*|TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.S572* Q59H18 TNI3K_HUMAN 471 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ATTATTGGCTCAGGTAACCta 0.333000 3 23 0 0 0.004672 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19670055 19670055 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr21:19670055G>A ENST00000284885.3 - 19 2290 c.2257C>T c.(2257-2259)Ccc>Tcc p.P753S NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 753 SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ACCCACCTGGGTGTTAGTATT 0.418000 5 40 0 0 0.000602 0 0 IFI16 3428 broad.mit.edu 37 1 158988382 158988382 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:158988382G>A ENST00000295809.7 + 5 1168 c.913G>A c.(913-915)Gat>Aat p.D305N IFI16_ENST00000430894.2_Missense_Mutation_p.D253N|IFI16_ENST00000368131.4_Missense_Mutation_p.D305N|IFI16_ENST00000340979.6_Missense_Mutation_p.D305N|IFI16_ENST00000448393.2_Missense_Mutation_p.D305N|IFI16_ENST00000359709.3_Missense_Mutation_p.D249N|IFI16_ENST00000368132.3_Missense_Mutation_p.D305N Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 305 HIN-200 1. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TCTGAAGATTGATATTCTTCA 0.353000 11 72 0 0 0.001368 0 0 EPHA3 2042 broad.mit.edu 37 3 89499479 89499479 + Silent SNP G G C rs145084709 byFrequency TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:89499479G>C ENST00000336596.2 + 15 2874 c.2649G>C c.(2647-2649)cgG>cgC p.R883R EPHA3_ENST00000494014.1_Silent_p.R883R NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 883 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AGCTTATCCGGAATCCCGGCA 0.468000 TSP Lung(6;0.00050) 11 68 0 0 0.001368 0 0 VPS33A 65082 broad.mit.edu 37 12 122729173 122729173 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:122729173G>T ENST00000267199.4 - 7 1024 c.912C>A c.(910-912)ttC>ttA p.F304L RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.F265L NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 304 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CAACTGCGTTGAAGTTCTTAT 0.507000 16 64 1.3612e-06 2.0166e-06 0.003163 1 0 RYR2 6262 broad.mit.edu 37 1 237777351 237777351 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:237777351C>T ENST00000366574.2 + 37 5240 c.4923C>T c.(4921-4923)atC>atT p.I1641I RYR2_ENST00000542537.1_Silent_p.I1625I|RYR2_ENST00000360064.6_Silent_p.I1639I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1641 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGTTGACATCTTAGAGTTGA 0.438000 5 49 0 0 0.000602 0 0 CDYL 9425 broad.mit.edu 37 6 4892238 4892238 + Nonsense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:4892238G>T ENST00000328908.5 + 4 609 c.478G>T c.(478-480)Gaa>Taa p.E160* CDYL_ENST00000397588.3_Nonsense_Mutation_p.E106*|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 160 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) GAAAGACCACGAATCCAAAAA 0.502000 16 95 6.72482e-11 1.0274e-10 0.003163 1 0 APOA4 337 broad.mit.edu 37 11 116693391 116693391 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:116693391G>A ENST00000357780.3 - 2 274 c.160C>T c.(160-162)Ctc>Ttc p.L54F NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TGCTGGGTGAGTTCAGATTTC 0.532000 28 287 0 0 0.008361 0 0 PRPF3 9129 broad.mit.edu 37 1 150316917 150316917 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:150316917G>A ENST00000324862.6 + 12 1699 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E463K|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 512 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CAGAGCGCATGAAGAGGCCAA 0.483000 8 107 0 0 0.006214 0 0 SLC22A14 9389 broad.mit.edu 37 3 38348012 38348012 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:38348012G>C ENST00000273173.4 + 1 586 c.495G>C c.(493-495)aaG>aaC p.K165N SLC22A14_ENST00000448498.1_Missense_Mutation_p.K165N NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 165 integral to plasma membrane organic cation transmembrane transporter activity p.K165N(1) central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CTGACGCTAAGAAGCGATCGC 0.498000 16 90 0 0 0.004990 0 0 ABHD1 84696 broad.mit.edu 37 2 27351351 27351351 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:27351351G>A ENST00000316470.4 + 2 271 c.157G>A c.(157-159)Gag>Aag p.E53K NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 53 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCTTCCTGGAGCCACACTG 0.572000 12 106 0 0 0.002450 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957704 73957704 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:73957704G>A ENST00000358602.4 - 29 5757 c.5641C>T c.(5641-5643)Ctt>Ttt p.L1881F ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1768F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1630F NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1881 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTAATGGAAGAGAAACTGGA 0.483000 19 140 0 0 0.007413 0 0 SEPT2 4735 broad.mit.edu 37 2 242265435 242265435 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:242265435G>A ENST00000391973.2 + 3 565 c.37G>A c.(37-39)Gaa>Aaa p.E13K SEPT2_ENST00000401990.1_Missense_Mutation_p.E13K|SEPT2_ENST00000360051.3_Missense_Mutation_p.E13K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E13K|SEPT2_ENST00000391971.2_Missense_Mutation_p.E13K|SEPT2_ENST00000407971.1_5'UTR NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 13 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TATAAATCCAGAAACACCTGG 0.348000 4 35 0 0 0.000602 0 0 NOL11 25926 broad.mit.edu 37 17 65734086 65734086 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:65734086G>C ENST00000253247.4 + 13 1642 c.1527G>C c.(1525-1527)ttG>ttC p.L509F NOL11_ENST00000535137.1_Missense_Mutation_p.L327F NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 509 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) AAATTTTCTTGAGGTAAGTTA 0.328000 5 99 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179477958 179477958 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:179477958C>G ENST00000589042.1 - 264 49802 c.49578G>C c.(49576-49578)ttG>ttC p.L16526F TTN_ENST00000591111.1_Missense_Mutation_p.L14885F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L7653F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L7586F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L7461F|TTN_ENST00000342992.6_Missense_Mutation_p.L13958F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14885 Fibronectin type-III 20. 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) GATTTTCAGCCAACACACGGA 0.348000 4 26 0 0 0.001984 0 0 PRKG2 5593 broad.mit.edu 37 4 82031655 82031655 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:82031655G>C ENST00000395578.1 - 15 2003 c.1887C>G c.(1885-1887)ttC>ttG p.F629L PRKG2_ENST00000418486.2_Missense_Mutation_p.F600L|PRKG2_ENST00000545647.1_Missense_Mutation_p.F209L|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.F629L Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 629 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AATCCACACTGAAGTCATGTC 0.438000 14 54 0 0 0.001855 0 0 APCS 325 broad.mit.edu 37 1 159558241 159558241 + Nonsense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:159558241C>T ENST00000255040.2 + 2 512 c.415C>T c.(415-417)Cga>Tga p.R139* NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 139 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) AAAGGGTCTGCGACAGGGTTA 0.507000 6 56 0 0 0.001984 0 0 CMPK1 51727 broad.mit.edu 37 1 47838678 47838678 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:47838678G>C ENST00000371873.5 + 3 519 c.370G>C c.(370-372)Gat>Cat p.D124H CMPK1_ENST00000450808.2_Missense_Mutation_p.D75H NM_001136140.1|NM_016308.2 NP_001129612.1|NP_057392.1 P30085 KCY_HUMAN cytidine monophosphate (UMP-CMP) kinase 1, cytosolic 92 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2) 8 Gemcitabine(DB00441) ATTCTTGATTGATGGGTTTCC 0.353000 3 42 0 0 0.004672 0 0 SEMA5A 9037 broad.mit.edu 37 5 9043069 9043069 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:9043069G>C ENST00000382496.5 - 23 3830 c.3165C>G c.(3163-3165)ctC>ctG p.L1055L CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1055 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TCTTCCCAGTGAGATGTGGGT 0.338000 7 47 0 0 0.001984 0 0 OR7G1 125962 broad.mit.edu 37 19 9226191 9226191 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:9226191C>T ENST00000293614.1 - 1 248 c.249G>A c.(247-249)gtG>gtA p.V83V OR7G1_ENST00000541538.1_Silent_p.V83V Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 83 V -> A (in dbSNP:rs6511874). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 CTTGGATGTTCACTAGGATCT 0.463000 18 160 0 0 0.007413 0 0 COL6A3 1293 broad.mit.edu 37 2 238262013 238262013 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:238262013C>G ENST00000295550.4 - 25 7113 c.6661G>C c.(6661-6663)Gag>Cag p.E2221Q COL6A3_ENST00000353578.4_Missense_Mutation_p.E2015Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2015Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1614Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2020Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2021Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2221 Collagen-like 3.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGCTCTCCCTCAAAGCCCGGC 0.512000 6 49 0 0 0.001984 0 0 SORCS1 114815 broad.mit.edu 37 10 108466321 108466321 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:108466321C>G ENST00000263054.6 - 8 1222 c.1215G>C c.(1213-1215)ccG>ccC p.P405P SORCS1_ENST00000344440.6_Silent_p.P405P NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 405 integral to membrane neuropeptide receptor activity|protein binding p.P405P(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAGCATATTTCGGAAGCTTCA 0.458000 5 55 0 0 0.001168 0 0 CSMD1 64478 broad.mit.edu 37 8 2965273 2965273 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:2965273C>G ENST00000520002.1 - 46 7360 c.6805G>C c.(6805-6807)Gaa>Caa p.E2269Q CSMD1_ENST00000400186.3_Missense_Mutation_p.E2269Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2269Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2269Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2268Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2268Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2269 Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTAAGCATTTCTGCCTGTGGA 0.353000 11 100 0 0 0.007413 0 0 PMS2 5395 broad.mit.edu 37 7 6043687 6043687 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:6043687G>C ENST00000265849.7 - 3 271 c.166C>G c.(166-168)Cta>Gta p.L56V PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.L56V|PMS2_ENST00000382321.4_Missense_Mutation_p.L56V NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 56 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TTAAGCTTTAGATCTAGAAAG 0.299000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 11 60 0 0 0.000978 0 0 HEPN1 641654 broad.mit.edu 37 11 124789818 124789818 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:124789818G>C ENST00000408930.5 + 1 673 c.172G>C c.(172-174)Gat>Cat p.D58H HEPACAM_ENST00000298251.4_3'UTR NM_001037558.2 NP_001032647.2 Q6WQI6 HEPN1_HUMAN hepatocellular carcinoma, down-regulated 1 58 cytoplasm large_intestine(1)|lung(1)|stomach(1) 3 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) TCACACAGTAGATTACTGCCA 0.493000 7 82 0 0 0.001984 0 0 CPS1 1373 broad.mit.edu 37 2 211507249 211507249 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:211507249C>T ENST00000233072.5 + 25 3197 c.3001C>T c.(3001-3003)Cgc>Tgc p.R1001C CPS1_ENST00000451903.2_Missense_Mutation_p.R550C|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.R1007C NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1001 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.R1001S(1)|p.R1007S(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTCTAGTATCCGCACACTGCG 0.453000 9 66 0 0 0.004482 0 0 SUCO 51430 broad.mit.edu 37 1 172579328 172579328 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:172579328G>C ENST00000367723.3 + 23 4274 c.4150G>C c.(4150-4152)Gac>Cac p.D1384H SUCO_ENST00000263688.3_Missense_Mutation_p.D1232H NM_016227.2 NP_057311.2 SUN domain containing ossification factor GAGCCTGCATGACATAATCAA 0.388000 9 35 0 0 0.008291 0 0 STARD13 90627 broad.mit.edu 37 13 33700248 33700248 + Silent SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr13:33700248C>A ENST00000336934.5 - 7 2168 c.2052G>T c.(2050-2052)ctG>ctT p.L684L STARD13_ENST00000399365.3_Silent_p.L566L|STARD13_ENST00000255486.4_Silent_p.L676L NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 684 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GTAGATATCTCAGTGCTTGCT 0.552000 12 84 0.000151284 0.000216825 0.001855 1 0 PGBD1 84547 broad.mit.edu 37 6 28269471 28269471 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:28269471C>G ENST00000405948.2 + 7 2260 c.1840C>G c.(1840-1842)Ctt>Gtt p.L614V PGBD1_ENST00000259883.3_Missense_Mutation_p.L614V NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 614 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CGCTGATGTTCTTTTAGAGAG 0.418000 15 109 0 0 0.004990 0 0 CD1E 913 broad.mit.edu 37 1 158324255 158324255 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:158324255C>A ENST00000368160.3 + 2 147 c.147C>A c.(145-147)agC>agA p.S49R CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.S49R|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.S49R|CD1E_ENST00000368163.3_Missense_Mutation_p.S49R|CD1E_ENST00000368155.3_Missense_Mutation_p.S49R|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S47R|CD1E_ENST00000368161.3_Missense_Mutation_p.S49R|CD1E_ENST00000368165.3_Missense_Mutation_p.S49R NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 49 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CCAACCACAGCTGGGCACACA 0.582000 10 106 9.70103e-10 1.46682e-09 0.008291 1 0 VAV3 10451 broad.mit.edu 37 1 108319902 108319902 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:108319902C>G ENST00000370056.4 - 4 671 c.397G>C c.(397-399)Gaa>Caa p.E133Q VAV3_ENST00000371846.4_Missense_Mutation_p.E68Q|VAV3_ENST00000527011.1_Missense_Mutation_p.E133Q|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 133 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTAATGCTTTCTTCTGTTGGG 0.388000 7 51 0 0 0.004482 0 0 BLZF1 8548 broad.mit.edu 37 1 169347731 169347731 + Missense_Mutation SNP A A C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:169347731A>C ENST00000367808.3 + 4 1055 c.632A>C c.(631-633)cAg>cCg p.Q211P BLZF1_ENST00000329281.2_Missense_Mutation_p.Q211P Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 211 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) ATGTCAATACAGTGTGATGTA 0.383000 24 81 0 0 0.003330 0 0 PIK3R3 8503 broad.mit.edu 37 1 46532698 46532698 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:46532698G>A ENST00000262741.5 - 4 1069 c.380C>T c.(379-381)cCt>cTt p.P127L PIK3R3_ENST00000423209.1_Missense_Mutation_p.P127L|PIK3R3_ENST00000420542.1_Missense_Mutation_p.P127L|PIK3R3_ENST00000372006.1_Missense_Mutation_p.P127L|PIK3R3_ENST00000354242.4_Missense_Mutation_p.P127L|PIK3R3_ENST00000340332.6_Missense_Mutation_p.P91L|PIK3R3_ENST00000540385.1_Missense_Mutation_p.P173L NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 127 SH2 1. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) AAATGTCAGAGGATCAGAAAA 0.398000 14 123 0 0 0.001855 0 0 FYCO1 79443 broad.mit.edu 37 3 46008734 46008734 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:46008734T>C ENST00000296137.2 - 8 2297 c.2092A>G c.(2092-2094)Aag>Gag p.K698E FYCO1_ENST00000535325.1_Missense_Mutation_p.K698E NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 698 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) ATGGCCTCCTTCTCTGCCATC 0.622000 18 150 0 0 0.001523 0 0 OR2A25 392138 broad.mit.edu 37 7 143771395 143771395 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:143771395G>A ENST00000408898.2 + 1 121 c.83G>A c.(82-84)gGg>gAg p.G28E NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CTCCTCTTTGGGCTCTTCTCC 0.507000 11 91 0 0 0.008291 0 0 TTC37 9652 broad.mit.edu 37 5 94857809 94857809 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:94857809G>C ENST00000358746.2 - 19 2258 c.1960C>G c.(1960-1962)Caa>Gaa p.Q654E NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 654 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ATCTGGTATTGAGCTACAGCC 0.358000 7 89 0 0 0.004482 0 0 ATP10D 57205 broad.mit.edu 37 4 47538713 47538713 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:47538713C>G ENST00000273859.3 + 9 1423 c.1154C>G c.(1153-1155)cCt>cGt p.P385R ATP10D_ENST00000504445.1_Intron NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 385 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GTCTTGATTCCTATTTCTCTC 0.313000 6 65 0 0 0.001168 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681747 125681747 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:125681747C>G ENST00000373656.3 - 2 540 c.467G>C c.(466-468)aGa>aCa p.R156T ZBTB26_ENST00000373654.1_Missense_Mutation_p.R156T NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 TGGGGAGCCTCTGGCATCTCC 0.443000 7 86 0 0 0.004482 0 0 CLCN1 1180 broad.mit.edu 37 7 143047716 143047716 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:143047716G>T ENST00000343257.2 + 22 2651 c.2564G>T c.(2563-2565)gGg>gTg p.G855V NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 855 CBS 2. muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACCAGCATGGGGAAGCTCAGG 0.582000 19 173 2.37509e-13 3.65399e-13 0.001523 1 0 TNFRSF13C 115650 broad.mit.edu 37 22 42321382 42321382 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:42321382C>T ENST00000291232.3 - 3 588 c.544G>A c.(544-546)Gag>Aag p.E182K NM_052945.3 NP_443177.1 Q96RJ3 TR13C_HUMAN tumor necrosis factor receptor superfamily, member 13C 182 integral to membrane receptor activity lung(2)|urinary_tract(1) 3 TATTGTTGCTCAGGGCCGGCC 0.637000 4 22 0 0 0.000248 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31484844 31484844 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:31484844C>T ENST00000394863.3 + 2 226 c.96C>T c.(94-96)ctC>ctT p.L32L TGFB1I1_ENST00000394858.2_Silent_p.L15L|TGFB1I1_ENST00000567607.1_Silent_p.L15L|TGFB1I1_ENST00000361773.3_Silent_p.L15L NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 32 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 CGGAGCCTCTCACCCCTCCCC 0.642000 9 59 0 0 0.004482 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859277 149859277 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:149859277G>A ENST00000331128.3 - 1 189 c.190C>T c.(190-192)Ctg>Ttg p.L64L NM_175065.2 NP_778235.1 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 64 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCCAGCTCCAGAATTTCCGCG 0.632000 5 67 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179429007 179429007 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:179429007G>A ENST00000589042.1 - 326 82076 c.81852C>T c.(81850-81852)gtC>gtT p.V27284V TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V25643V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V18411V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V18344V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.V18219V|TTN_ENST00000342992.6_Silent_p.V24716V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25643 Fibronectin type-III 98. 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) GAACAACGATGACATCTTTAT 0.408000 18 152 0 0 0.004990 0 0 KIF4A 24137 broad.mit.edu 37 X 69521845 69521845 + Silent SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:69521845T>C ENST00000374403.3 + 6 694 c.612T>C c.(610-612)gcT>gcC p.A204A KIF4A_ENST00000374388.3_Silent_p.A204A NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 204 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 CCTCCACGGCTATGAACTCCC 0.428000 3 87 0 0 0.004672 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39421648 39421648 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:39421648C>A ENST00000216099.7 + 4 984 c.577C>A c.(577-579)Ctg>Atg p.L193M APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.L193M NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 193 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) TTATGCATCCCTGCACCGCAC 0.522000 6 212 0.00198382 0.00281574 0.001984 1 0 UBXN1 51035 broad.mit.edu 37 11 62445457 62445457 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:62445457C>T ENST00000294119.2 - 5 555 c.424G>A c.(424-426)Gag>Aag p.E142K UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.E142K|UBXN1_ENST00000529640.1_Missense_Mutation_p.E142K NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 142 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding p.E142K(1) endometrium(5)|lung(12) 17 CGGCGCATCTCATCTTCCTGT 0.577000 7 33 0 0 0.001984 0 0 RPAP1 26015 broad.mit.edu 37 15 41810036 41810036 + Missense_Mutation SNP C C T rs147536655 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr15:41810036C>T ENST00000304330.4 - 24 4108 c.3992G>A c.(3991-3993)cGc>cAc p.R1331H RPAP1_ENST00000561603.1_Missense_Mutation_p.A1079T NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1331 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CATACTCCTGCGGGCAGCTTT 0.567000 39 266 0 0 0.006999 0 0 OTP 23440 broad.mit.edu 37 5 76932692 76932692 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:76932692C>G ENST00000306422.3 - 2 1539 c.401G>C c.(400-402)cGt>cCt p.R134P OTP_ENST00000515716.1_5'UTR NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 134 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) CAGCTCCTCACGCATAAAGAT 0.612000 8 107 0 0 0.003080 0 0 IL4I1 259307 broad.mit.edu 37 19 50397678 50397678 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:50397678G>A ENST00000595948.1 - 7 1100 c.480C>T c.(478-480)ttC>ttT p.F160F IL4I1_ENST00000391826.2_Silent_p.F138F|IL4I1_ENST00000341114.3_Silent_p.F160F NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 138 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) CGTACTGGGTGAACTTGGTCA 0.627000 12 85 0 0 0.001368 0 0 RSPO2 340419 broad.mit.edu 37 8 109001387 109001387 + Missense_Mutation SNP G G C rs149399382 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:109001387G>C ENST00000276659.5 - 3 800 c.180C>G c.(178-180)ttC>ttG p.F60L RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 60 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) GAAGGAAGAAGAACAACTTCT 0.463000 6 54 0 0 0.001168 0 0 DPP10 57628 broad.mit.edu 37 2 116538488 116538488 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:116538488C>T ENST00000410059.1 + 16 1880 c.1400C>T c.(1399-1401)tCa>tTa p.S467L DPP10_ENST00000393147.2_Missense_Mutation_p.S471L|DPP10_ENST00000409163.1_Missense_Mutation_p.S417L|DPP10_ENST00000310323.8_Missense_Mutation_p.S460L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 467 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CAATGCATTTCATGTAATTTC 0.323000 10 93 0 0 0.008291 0 0 CLDN17 26285 broad.mit.edu 37 21 31538736 31538736 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr21:31538736T>C ENST00000286808.3 - 1 235 c.200A>G c.(199-201)tAt>tGt p.Y67C NM_012131.2 NP_036263.1 P56750 CLD17_HUMAN claudin 17 67 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 CAAGGAGCTATAGAACTTGCA 0.542000 20 88 0 0 0.008871 0 0 PTPRB 5787 broad.mit.edu 37 12 71002895 71002895 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:71002895G>A ENST00000334414.6 - 4 977 c.933C>T c.(931-933)ttC>ttT p.F311F PTPRB_ENST00000538708.1_Silent_p.F93F|PTPRB_ENST00000261266.5_Silent_p.F93F|PTPRB_ENST00000451516.2_Silent_p.F93F|PTPRB_ENST00000551525.1_Silent_p.F310F|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.F93F|PTPRB_ENST00000550358.1_Silent_p.F311F NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 93 Fibronectin type-III 4. 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) AAATAATCCTGAAGTTATAGA 0.502000 7 255 0 0 0.003080 0 0 ADCY8 114 broad.mit.edu 37 8 132052045 132052045 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:132052045G>A ENST00000286355.5 - 1 2627 c.535C>T c.(535-537)Cgc>Tgc p.R179C ADCY8_ENST00000377928.3_Missense_Mutation_p.R179C NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 179 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCCGATTTGCGCCTTTGGCCC 0.567000 HNSCC(32;0.087) 14 62 0 0 0.004007 0 0 SIM2 6493 broad.mit.edu 37 21 38095368 38095368 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr21:38095368C>G ENST00000290399.6 + 5 1093 c.480C>G c.(478-480)ttC>ttG p.F160L SIM2_ENST00000430056.3_Missense_Mutation_p.F160L NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 160 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 AGAGGTCGTTCTTTCTTCGAA 0.547000 11 122 0 0 0.002450 0 0 ARID1B 57492 broad.mit.edu 37 6 157528090 157528090 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:157528090G>T ENST00000346085.5 + 20 5816 c.5815G>T c.(5815-5817)Gac>Tac p.D1939Y ARID1B_ENST00000350026.5_Missense_Mutation_p.D1926Y|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1979Y|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1921Y NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1926 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GCACTGGCAGGACTCGCTGGC 0.552000 15 139 1.67942e-08 2.51341e-08 0.006122 1 0 KCTD19 146212 broad.mit.edu 37 16 67338468 67338468 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:67338468C>G ENST00000304372.5 - 3 362 c.307G>C c.(307-309)Gat>Cat p.D103H KCTD19_ENST00000562860.1_Intron NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 103 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TTCAGGTTATCTAGAGTCTGT 0.418000 15 74 0 0 0.003163 0 0 JMJD6 23210 broad.mit.edu 37 17 74721760 74721760 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:74721760C>T ENST00000445478.2 - 2 510 c.307G>A c.(307-309)Gag>Aag p.E103K JMJD6_ENST00000397625.4_Missense_Mutation_p.E103K|JMJD6_ENST00000585429.1_Missense_Mutation_p.E103K NM_001081461.1 NP_001074930.1 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 103 mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 TCGTTATCCTCACCACACTTG 0.468000 15 139 0 0 0.003163 0 0 ATP5B 506 broad.mit.edu 37 12 57036523 57036523 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:57036523G>A ENST00000262030.3 - 6 935 c.885C>T c.(883-885)gaC>gaT p.D295D ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Silent_p.D295D NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 295 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GACCTTCTTGGTCTCTGAAGT 0.498000 11 84 0 0 0.008291 0 0 ATP5B 506 broad.mit.edu 37 12 57032983 57032983 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:57032983G>C ENST00000262030.3 - 9 1446 c.1396C>G c.(1396-1398)Cag>Gag p.Q466E ATP5B_ENST00000552919.1_Missense_Mutation_p.Q455E NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 466 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGGAATGGCTGAGACAAGAAA 0.498000 15 156 0 0 0.003163 0 0 ZNF556 80032 broad.mit.edu 37 19 2876147 2876147 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:2876147G>A ENST00000586426.1 + 3 274 c.187G>A c.(187-189)Gaa>Aaa p.E63K ZNF556_ENST00000307635.2_Missense_Mutation_p.E63K Q9HAH1 ZN556_HUMAN zinc finger protein 556 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACTTCTGGAGAAAAATTATC 0.373000 12 169 0 0 0.001368 0 0 ACIN1 22985 broad.mit.edu 37 14 23532787 23532787 + Splice_Site SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr14:23532787C>G ENST00000262710.1 - 13 3097 c.e13-1 ACIN1_ENST00000397341.3_Splice_Site|ACIN1_ENST00000338631.6_Splice_Site|ACIN1_ENST00000357481.2_Splice_Site|ACIN1_ENST00000555053.1_Splice_Site|ACIN1_ENST00000605057.1_Splice_Site|ACIN1_ENST00000557515.1_Splice_Site|ACIN1_ENST00000457657.1_Splice_Site NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CAGGTACTACCTATCAAGGTG 0.502000 9 79 0 0 0.004482 0 0 GAPT 202309 broad.mit.edu 37 5 57790482 57790482 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:57790482G>A ENST00000396776.2 + 3 581 c.119G>A c.(118-120)cGa>cAa p.R40Q GAPT_ENST00000318469.2_Missense_Mutation_p.R40Q NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 40 B cell activation integral to membrane|plasma membrane p.R40Q(1) NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 GTTGCCACACGATTTACCTTA 0.433000 10 58 0 0 0.008291 0 0 TLR7 51284 broad.mit.edu 37 X 12904782 12904782 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:12904782G>C ENST00000380659.3 + 3 1294 c.1155G>C c.(1153-1155)ttG>ttC p.L385F NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 385 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TTAAAGAGTTGAAAAGCTTTA 0.348000 9 128 0 0 0.008291 0 0 OR51S1 119692 broad.mit.edu 37 11 4869844 4869844 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:4869844C>T ENST00000322101.2 - 1 670 c.595G>A c.(595-597)Gaa>Aaa p.E199K MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCCAAGCTTCTGGGCAGGCC 0.542000 10 99 0 0 0.008291 0 0 FAM71A 149647 broad.mit.edu 37 1 212799595 212799595 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:212799595C>T ENST00000294829.3 + 1 1807 c.1376C>T c.(1375-1377)tCc>tTc p.S459F RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 459 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CAAAAGTCCTCCAGCAGGTCC 0.552000 6 53 0 0 0.001168 0 0 CLCN2 1181 broad.mit.edu 37 3 184072029 184072029 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:184072029C>G ENST00000265593.4 - 15 1752 c.1581G>C c.(1579-1581)caG>caC p.Q527H EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.Q510H|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q527H|CLCN2_ENST00000434054.2_Missense_Mutation_p.Q483H NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 527 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TGTGGGCAATCTGGCCTGTGA 0.602000 OREG0015949 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 35 0 0 0.003080 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608772 84608772 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:84608772G>C ENST00000344803.2 + 4 3434 c.3387G>C c.(3385-3387)aaG>aaC p.K1129N NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CATGGGATAAGAGAAAGAGTT 0.468000 7 62 0 0 0.003080 0 0 THAP4 51078 broad.mit.edu 37 2 242572898 242572898 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:242572898C>T ENST00000407315.1 - 2 1105 c.674G>A c.(673-675)gGa>gAa p.G225E NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 225 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CGCCCCAGATCCTGGGGGCGT 0.557000 14 112 0 0 0.002450 0 0 LINC00173 100287569 broad.mit.edu 37 12 116972422 116972422 + RNA SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:116972422C>G ENST00000480237.1 + 0 693 NR_027345.1 AATGGAATCTCATTTGCCAAA 0.433000 4 44 0 0 0.000602 0 0 PARP9 83666 broad.mit.edu 37 3 122269548 122269548 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:122269548C>G ENST00000462315.1 - 6 1502 c.1209G>C c.(1207-1209)aaG>aaC p.K403N PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.K403N|PARP9_ENST00000471785.1_Missense_Mutation_p.K403N|PARP9_ENST00000360356.2_Missense_Mutation_p.K438N NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 438 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CTGTTTCCTTCTTTATTTCCA 0.348000 4 33 0 0 0.000248 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892402 2892402 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:2892402G>C ENST00000254528.3 + 4 2436 c.2277G>C c.(2275-2277)aaG>aaC p.K759N NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 759 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding p.K759N(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CTGGCCTGAAGAATTCAGTCC 0.468000 10 47 0 0 0.008291 0 0 ZNF688 146542 broad.mit.edu 37 16 30582364 30582364 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:30582364C>T ENST00000223459.6 - 2 1381 c.277G>A c.(277-279)Gag>Aag p.E93K ZNF688_ENST00000567855.1_Missense_Mutation_p.E93K|ZNF688_ENST00000395219.1_Missense_Mutation_p.E79K|ZNF688_ENST00000563707.1_Intron NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 TCCCCCTTCTCAGGATCCTGG 0.592000 5 30 0 0 0.001168 0 0 TRPC4 7223 broad.mit.edu 37 13 38237715 38237715 + Missense_Mutation SNP A A G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr13:38237715A>G ENST00000379705.3 - 6 2383 c.1526T>C c.(1525-1527)cTg>cCg p.L509P TRPC4_ENST00000379681.3_Missense_Mutation_p.L509P|TRPC4_ENST00000379673.2_Missense_Mutation_p.L509P|TRPC4_ENST00000379679.1_Missense_Mutation_p.L336P|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.L509P|TRPC4_ENST00000358477.2_Missense_Mutation_p.L509P|TRPC4_ENST00000338947.5_Missense_Mutation_p.L336P|TRPC4_ENST00000355779.2_Missense_Mutation_p.L509P|TRPC4_ENST00000426868.2_Intron Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 509 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CATTCTTCCCAGAGATATTTG 0.398000 13 31 0 0 0.001855 0 0 MFSD4 148808 broad.mit.edu 37 1 205553109 205553109 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:205553109G>A ENST00000367147.4 + 4 810 c.717G>A c.(715-717)atG>atA p.M239I MFSD4_ENST00000539267.1_Missense_Mutation_p.M239I|MFSD4_ENST00000536357.1_Missense_Mutation_p.M152I NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 239 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CTGTGCTGATGCTGCTGTCCA 0.642000 8 61 0 0 0.006214 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123118004 123118004 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:123118004C>T ENST00000368440.4 + 3 539 c.362C>T c.(361-363)tCa>tTa p.S121L SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_5'UTR NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 121 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) CCTGAACTCTCAACAGACACT 0.393000 5 50 0 0 0.001168 0 0 HEXA 3073 broad.mit.edu 37 15 72668262 72668262 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr15:72668262C>G ENST00000268097.5 - 1 555 c.52G>C c.(52-54)Gga>Cga p.G18R HEXA_ENST00000566304.1_Missense_Mutation_p.G18R|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567213.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.G18R NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 18 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 GTCGCCCGTCCTGCGAACGCT 0.627000 14 115 0 0 0.001855 0 0 PIK3C3 5289 broad.mit.edu 37 18 39620662 39620662 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:39620662C>T ENST00000262039.4 + 19 2146 c.2060C>T c.(2059-2061)tCa>tTa p.S687L PIK3C3_ENST00000587402.1_Missense_Mutation_p.S34L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.S34L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.S624L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.S172L NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 687 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 TTTATCCAGTCAGTTCCTGTG 0.343000 TSP Lung(28;0.18) 9 66 0 0 0.008291 0 0 ZNF688 146542 broad.mit.edu 37 16 30582410 30582410 + Nonsense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:30582410C>T ENST00000223459.6 - 2 1335 c.231G>A c.(229-231)tgG>tgA p.W77* ZNF688_ENST00000567855.1_Nonsense_Mutation_p.W77*|ZNF688_ENST00000395219.1_Nonsense_Mutation_p.W63*|ZNF688_ENST00000563707.1_Intron NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 CCTGTTCCATCCAAGAGATGA 0.632000 5 22 0 0 0.001168 0 0 HMCN1 83872 broad.mit.edu 37 1 186086243 186086243 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:186086243C>G ENST00000271588.4 + 76 11908 c.11679C>G c.(11677-11679)gtC>gtG p.V3893V HMCN1_ENST00000367492.2_Silent_p.V3893V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3893 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATCTCACTGTCCAAGGTAGAA 0.373000 7 70 0 0 0.003080 0 0 SCN3A 6328 broad.mit.edu 37 2 166011088 166011088 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:166011088C>T ENST00000360093.3 - 11 1745 c.1254G>A c.(1252-1254)ttG>ttA p.L418L SCN3A_ENST00000409101.3_Silent_p.L418L|SCN3A_ENST00000283254.7_Silent_p.L418L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 418 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) CAGCCAGGATCAAATTCACCA 0.458000 9 70 0 0 0.006214 0 0 SEC13 6396 broad.mit.edu 37 3 10346800 10346800 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:10346800C>G ENST00000397117.1 - 7 1174 c.583G>C c.(583-585)Gaa>Caa p.E195Q SEC13_ENST00000350697.3_Missense_Mutation_p.E209Q|SEC13_ENST00000337354.4_Missense_Mutation_p.E212Q|SEC13_ENST00000397109.3_Missense_Mutation_p.E195Q|SEC13_ENST00000383801.2_Missense_Mutation_p.E255Q P55735 SEC13_HUMAN SEC13 homolog (S. cerevisiae) 209 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 CTGTGCGCTTCTAGCTTCTGC 0.642000 7 34 0 0 0.001984 0 0 OR2T34 127068 broad.mit.edu 37 1 248737462 248737462 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:248737462G>A ENST00000328782.2 - 1 618 c.597C>T c.(595-597)ctC>ctT p.L199L NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCATCTTATAGAGGGAGACGT 0.512000 22 275 0 0 0.004656 0 0 LRBA 987 broad.mit.edu 37 4 151773315 151773315 + Missense_Mutation SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:151773315T>C ENST00000535741.1 - 23 4020 c.3547A>G c.(3547-3549)Aca>Gca p.T1183A LRBA_ENST00000507224.1_Missense_Mutation_p.T1183A|LRBA_ENST00000510413.1_Missense_Mutation_p.T1183A|LRBA_ENST00000357115.3_Missense_Mutation_p.T1183A P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1183 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CCTGATGCTGTCATAGTCTGA 0.383000 14 88 0 0 0.002450 0 0 TCHH 7062 broad.mit.edu 37 1 152081957 152081957 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:152081957C>G ENST00000368804.1 - 2 3735 c.3736G>C c.(3736-3738)Gag>Cag p.E1246Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1246 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTCATTCTCTCTGCCTTTG 0.512000 7 87 0 0 0.001984 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095793 178095793 + Missense_Mutation SNP T T A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:178095793T>A ENST00000397062.3 - 5 2092 c.1538A>T c.(1537-1539)aAt>aTt p.N513I NFE2L2_ENST00000446151.2_Missense_Mutation_p.N490I|NFE2L2_ENST00000397063.4_Missense_Mutation_p.N497I|NFE2L2_ENST00000464747.1_Missense_Mutation_p.N497I NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 513 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTTTCTGCAATTCTGAGCAGC 0.343000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 6 74 0 0 0.001984 0 0 COL6A3 1293 broad.mit.edu 37 2 238283578 238283578 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:238283578C>G ENST00000295550.4 - 8 3608 c.3156G>C c.(3154-3156)caG>caC p.Q1052H COL6A3_ENST00000353578.4_Missense_Mutation_p.Q846H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q846H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q645H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q846H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q445H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q851H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q852H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1052 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCACCACTCTCTGGACAAACT 0.582000 6 82 0 0 0.001168 0 0 CDR2 1039 broad.mit.edu 37 16 22358615 22358615 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:22358615G>C ENST00000268383.2 - 5 1343 c.1036C>G c.(1036-1038)Ctg>Gtg p.L346V NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 346 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) ACTTCGTGCAGAAGGGAGATG 0.567000 8 60 0 0 0.004482 0 0 DNM3 26052 broad.mit.edu 37 1 172011224 172011224 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:172011224C>G ENST00000358155.4 + 8 1244 c.1068C>G c.(1066-1068)ctC>ctG p.L356L DNM3_ENST00000367733.2_Silent_p.L356L|DNM3_ENST00000367731.1_Silent_p.L356L|DNM3_ENST00000355305.5_Silent_p.L356L|DNM3_ENST00000520906.1_Silent_p.L356L NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 356 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCCTGGAACTCTCAGGTGGTG 0.368000 9 82 0 0 0.006214 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49301449 49301449 + Nonsense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr15:49301449G>T ENST00000559471.1 - 14 2254 c.1991C>A c.(1990-1992)tCa>tAa p.S664* SECISBP2L_ENST00000261847.3_Nonsense_Mutation_p.S619* NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 664 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 GGTTATTGTTGAAGATGCCAT 0.383000 10 86 3.86212e-05 5.55337e-05 0.008291 1 0 ZNF518B 85460 broad.mit.edu 37 4 10446410 10446410 + Missense_Mutation SNP C C G rs142752312 byFrequency TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:10446410C>G ENST00000326756.3 - 3 1981 c.1543G>C c.(1543-1545)Gaa>Caa p.E515Q NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 CTTCCACTTTCAGCAAAACAA 0.408000 14 78 0 0 0.002450 0 0 FGL1 2267 broad.mit.edu 37 8 17739550 17739550 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:17739550C>T ENST00000398056.2 - 5 1017 c.202G>A c.(202-204)Gag>Aag p.E68K FGL1_ENST00000381841.2_Missense_Mutation_p.E68K|FGL1_ENST00000518650.1_Missense_Mutation_p.E68K|FGL1_ENST00000522444.1_Missense_Mutation_p.E68K|FGL1_ENST00000427924.1_Missense_Mutation_p.E68K|FGL1_ENST00000381840.2_Missense_Mutation_p.E68K|FGL1_ENST00000398054.1_Missense_Mutation_p.E68K Q08830 FGL1_HUMAN fibrinogen-like 1 68 signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) ACAGTATTCTCATCTCCTTTA 0.448000 9 56 0 0 0.008291 0 0 CDR2 1039 broad.mit.edu 37 16 22358863 22358863 + Nonsense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:22358863G>C ENST00000268383.2 - 5 1095 c.788C>G c.(787-789)tCa>tGa p.S263* NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 263 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) TGGATGCTCTGACTGCAACAT 0.562000 5 88 0 0 0.001984 0 0 DNAH7 56171 broad.mit.edu 37 2 196737073 196737073 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:196737073G>A ENST00000312428.6 - 40 6634 c.6534C>T c.(6532-6534)ttC>ttT p.F2178F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2178 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CACGGAGGTTGAACAAGTAGT 0.403000 7 79 0 0 0.003080 0 0 TRIM68 55128 broad.mit.edu 37 11 4621894 4621894 + Missense_Mutation SNP C C T rs139399398 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:4621894C>T ENST00000300747.5 - 7 1359 c.1070G>A c.(1069-1071)cGg>cAg p.R357Q NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 357 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCAGTAGTGCCGGCCTGAGGA 0.542000 9 49 0 0 0.004482 0 0 PTCHD2 57540 broad.mit.edu 37 1 11576212 11576212 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:11576212C>G ENST00000294484.6 + 6 1881 c.1743C>G c.(1741-1743)ttC>ttG p.F581L PTCHD2_ENST00000389575.3_Missense_Mutation_p.F581L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 581 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTAACGTCTTCTCCCAGGTGC 0.622000 8 57 0 0 0.006214 0 0 OR4D6 219983 broad.mit.edu 37 11 59224838 59224838 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:59224838G>A ENST00000300127.2 + 1 428 c.405G>A c.(403-405)atG>atA p.M135I NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 ATGTGACCATGATGAGGAAAG 0.488000 19 181 0 0 0.008871 0 0 CSMD1 64478 broad.mit.edu 37 8 2965255 2965255 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:2965255C>T ENST00000520002.1 - 46 7378 c.6823G>A c.(6823-6825)Gat>Aat p.D2275N CSMD1_ENST00000400186.3_Missense_Mutation_p.D2275N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D2275N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D2275N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2274N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2274N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2275 Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCGAAATCATCATCCTCAGTA 0.358000 8 89 0 0 0.001368 0 0 PTPRR 5801 broad.mit.edu 37 12 71139815 71139815 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:71139815C>G ENST00000283228.2 - 6 1242 c.790G>C c.(790-792)Gag>Cag p.E264Q PTPRR_ENST00000342084.4_Missense_Mutation_p.E152Q|PTPRR_ENST00000440835.2_Missense_Mutation_p.E19Q|PTPRR_ENST00000549308.1_Missense_Mutation_p.E19Q|PTPRR_ENST00000378778.1_Missense_Mutation_p.E58Q NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 264 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 p.E264*(2) 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) TGGTTTTTCTCTTTGTCTTGT 0.423000 5 115 0 0 0.001168 0 0 PLCB1 23236 broad.mit.edu 37 20 8639341 8639341 + Silent SNP C C T rs147648227 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:8639341C>T ENST00000378641.3 + 9 1327 c.852C>T c.(850-852)ctC>ctT p.L284L PLCB1_ENST00000378637.2_Silent_p.L284L|PLCB1_ENST00000338037.6_Silent_p.L284L NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 284 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.L284L(1) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ACAACAGCCTCGCCAGAAAAG 0.443000 6 61 0 0 0.003080 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221527 10221527 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:10221527G>A ENST00000428358.1 + 11 1358 c.1186G>A c.(1186-1188)Gag>Aag p.E396K PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E396K|PPAN_ENST00000556468.1_Missense_Mutation_p.E396K|PPAN_ENST00000393793.1_Missense_Mutation_p.E343K|PPAN_ENST00000253107.7_Missense_Mutation_p.E396K NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 396 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GGCGGTGGGCGAGGCGCCCAG 0.612000 35 150 0 0 0.004289 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713926 70713926 + RNA SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr14:70713926G>C ENST00000530196.1 - 0 592 NR_003951.1 AAATGTGGCAGAGTGCCTGAT 0.448000 5 49 0 0 0.001168 0 0 OR6C6 283365 broad.mit.edu 37 12 55688558 55688558 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:55688558G>A ENST00000358433.2 - 1 458 c.459C>T c.(457-459)atC>atT p.I153I NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GGGGAAATATGATTAAGAATC 0.418000 6 46 0 0 0.001168 0 0 ACOT12 134526 broad.mit.edu 37 5 80626663 80626663 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:80626663G>A ENST00000307624.3 - 14 1516 c.1488C>T c.(1486-1488)ctC>ctT p.L496L ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 496 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TAGCATGGATGAGAAATCCGG 0.433000 4 39 0 0 0.000248 0 0 GORASP2 26003 broad.mit.edu 37 2 171818224 171818224 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:171818224C>G ENST00000234160.4 + 8 1690 c.875C>G c.(874-876)tCt>tGt p.S292C GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.S304C NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 292 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 TCCCTCACTTCTGTGCCACCA 0.393000 14 141 0 0 0.002450 0 0 CASC1 55259 broad.mit.edu 37 12 25272230 25272230 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:25272230G>C ENST00000354189.5 - 12 1454 c.1419C>G c.(1417-1419)ctC>ctG p.L473L CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Silent_p.L297L|CASC1_ENST00000545133.1_Silent_p.L350L|CASC1_ENST00000395987.3_Silent_p.L415L|CASC1_ENST00000320267.9_Silent_p.L409L|CASC1_ENST00000395990.2_Silent_p.L369L NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 409 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ATCCTTCTTTGAGTATCTTTT 0.323000 5 71 0 0 0.000602 0 0 FASLG 356 broad.mit.edu 37 1 172629280 172629280 + Splice_Site SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:172629280G>C ENST00000367721.2 + 2 578 c.394_splice c.e2+1 p.G132_splice FASLG_ENST00000340030.3_Intron NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 132 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 GAAGCAAATAGGTGAGTCTTT 0.358000 3 66 0 0 0.000602 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172245 207172245 + Nonsense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:207172245C>G ENST00000374423.3 + 5 3379 c.2993C>G c.(2992-2994)tCa>tGa p.S998* NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 998 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 TTCAGTGGTTCAAAAACAAGT 0.373000 9 77 0 0 0.004482 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049530 69049530 + Missense_Mutation SNP A A G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:69049530A>G ENST00000295381.3 + 10 1675 c.1256A>G c.(1255-1257)gAg>gGg p.E419G ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E113G|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E380G|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E420G|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E413G|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E412G NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 419 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GCGTTTCCGGAGGACAGCAGC 0.502000 4 167 0 0 0.000248 0 0 FBXL7 23194 broad.mit.edu 37 5 15937263 15937263 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:15937263G>A ENST00000504595.1 + 4 1925 c.1444G>A c.(1444-1446)Gtc>Atc p.V482I FBXL7_ENST00000510662.1_Missense_Mutation_p.V435I|FBXL7_ENST00000329673.7_Missense_Mutation_p.V470I NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 482 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CAAGCGCTGCGTCATCGAGCA 0.542000 6 26 0 0 0.001168 0 0 KDM3B 51780 broad.mit.edu 37 5 137754766 137754766 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:137754766G>A ENST00000314358.5 + 14 3760 c.3560G>A c.(3559-3561)aGa>aAa p.R1187K KDM3B_ENST00000542866.1_Missense_Mutation_p.R219K|KDM3B_ENST00000394866.1_Missense_Mutation_p.R843K|KDM3B_ENST00000508386.1_3'UTR NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1187 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 ACTGACATCAGATCTGAAGAG 0.537000 11 71 0 0 0.008291 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798460 160798460 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:160798460C>T ENST00000283243.7 - 30 4427 c.4221G>A c.(4219-4221)ctG>ctA p.L1407L PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1407 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CAATGACTATCAGTGTCAGTA 0.408000 13 80 0 0 0.002450 0 0 TMEM209 84928 broad.mit.edu 37 7 129843654 129843654 + Missense_Mutation SNP A A C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:129843654A>C ENST00000397622.2 - 3 295 c.173T>G c.(172-174)gTg>gGg p.V58G TMEM209_ENST00000462753.1_Missense_Mutation_p.V57G|TMEM209_ENST00000473456.1_Missense_Mutation_p.V58G|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.V57G NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 58 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) CCAGTATGTCACATTGTAGTA 0.313000 3 11 0 0 0.000248 0 0 ZNF845 91664 broad.mit.edu 37 19 53855272 53855272 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:53855272C>T ENST00000458035.1 + 4 1461 c.1344C>T c.(1342-1344)ttC>ttT p.F448F ZNF845_ENST00000595091.1_Silent_p.F448F NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ATGAAGCTTTCAGTTTCAAAT 0.403000 7 58 0 0 0.001984 0 0 KDM2B 84678 broad.mit.edu 37 12 121890993 121890993 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:121890993C>T ENST00000377069.4 - 13 2202 c.1796G>A c.(1795-1797)tGc>tAc p.C599Y KDM2B_ENST00000536437.1_Missense_Mutation_p.C513Y|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377071.4_Missense_Mutation_p.C630Y NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 630 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CATGTCCTTGCAGAAGTGGCA 0.697000 4 40 0 0 0.000248 0 0 TRO 7216 broad.mit.edu 37 X 54955044 54955044 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:54955044G>A ENST00000173898.7 + 12 1999 c.1887G>A c.(1885-1887)aaG>aaA p.K629K TRO_ENST00000375041.2_Silent_p.K232K|TRO_ENST00000399736.1_Silent_p.K232K|TRO_ENST00000420798.2_Silent_p.K160K|TRO_ENST00000319167.8_Silent_p.K629K|TRO_ENST00000375022.4_Silent_p.K629K NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 629 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 AGGTGCAGAAGAAAGACCCCA 0.478000 9 102 0 0 0.004482 0 0 MANBA 4126 broad.mit.edu 37 4 103644166 103644166 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:103644166C>T ENST00000226578.4 - 4 510 c.411G>A c.(409-411)gtG>gtA p.V137V MANBA_ENST00000505239.1_Intron NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 137 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CAATGGAGTTCACGTCCCTGA 0.473000 5 49 0 0 0.000602 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76165798 76165798 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr15:76165798G>A ENST00000267938.4 + 5 859 c.477G>A c.(475-477)atG>atA p.M159I UBE2Q2_ENST00000338677.4_Missense_Mutation_p.M159I|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.M143I|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.M124I NM_173469.2 NP_775740.1 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q family member 2 159 Glu-rich. protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 12 ACTATGAGATGAAGGAAGAAG 0.333000 4 28 0 0 0.000248 0 0 PCGF2 7703 broad.mit.edu 37 17 36894636 36894636 + Nonsense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:36894636G>A ENST00000579882.1 - 9 865 c.550C>T c.(550-552)Caa>Taa p.Q184* PCGF2_ENST00000581345.1_Silent_p.R182R|PCGF2_ENST00000580830.1_Silent_p.R182R|PCGF2_ENST00000360797.2_Silent_p.R182R|PCGF2_ENST00000585100.1_Nonsense_Mutation_p.Q184*|PCGF2_ENST00000578109.1_Nonsense_Mutation_p.Q130* P35227 PCGF2_HUMAN polycomb group ring finger 2 301 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) CCATCTTGTTGCGGAGAAACT 0.572000 10 42 0 0 0.008291 0 0 TRHDE 29953 broad.mit.edu 37 12 73046174 73046174 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:73046174C>G ENST00000261180.4 + 16 2709 c.2613C>G c.(2611-2613)ttC>ttG p.F871L NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 871 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TCTGGGAATTCATATGGATGA 0.388000 6 83 0 0 0.001168 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956268 18956268 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:18956268G>C ENST00000302797.3 - 1 288 c.64C>G c.(64-66)Ctt>Gtt p.L22V MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 22 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTGTAGCAAAGAGTCTCCTCA 0.542000 21 572 0 0 0.002780 0 0 GJA9 81025 broad.mit.edu 37 1 39340485 39340485 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:39340485G>C ENST00000454994.2 - 2 1562 c.1286C>G c.(1285-1287)tCt>tGt p.S429C GJA9_ENST00000357771.3_Missense_Mutation_p.S429C|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.S429C|RP5-864K19.4_ENST00000456813.1_RNA P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 429 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) ATGTTCTGTAGAGGAACCCCA 0.512000 3 63 0 0 0.004672 0 0 C19orf45 374877 broad.mit.edu 37 19 7570435 7570435 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:7570435G>C ENST00000361664.2 + 6 1069 c.928G>C c.(928-930)Gag>Cag p.E310Q NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 310 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 TCAGACTCCGGAGTCGCACAT 0.627000 12 68 0 0 0.000978 0 0 TMEM179B 374395 broad.mit.edu 37 11 62556550 62556550 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:62556550C>T ENST00000333449.4 + 2 157 c.152C>T c.(151-153)tCc>tTc p.S51F TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_Missense_Mutation_p.S51F NM_199337.2 NP_955369.1 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 51 integral to membrane kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 AATGGCTCCTCCCTGGCCTTA 0.567000 13 116 0 0 0.001368 0 0 GPR31 2853 broad.mit.edu 37 6 167570790 167570790 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:167570790C>G ENST00000366834.1 - 1 1027 c.530G>C c.(529-531)tGg>tCg p.W177S NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 177 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) TGCTTCCTGCCAGATGATGCT 0.592000 17 149 0 0 0.004007 0 0 NLRC4 58484 broad.mit.edu 37 2 32475393 32475393 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:32475393G>C ENST00000404025.2 - 5 2028 c.1540C>G c.(1540-1542)Caa>Gaa p.Q514E NLRC4_ENST00000402280.1_Missense_Mutation_p.Q514E|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q514E|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 514 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAGCCGTGTTGATACACTGCT 0.507000 8 38 0 0 0.004482 0 0 ARID1B 57492 broad.mit.edu 37 6 157528089 157528089 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:157528089G>T ENST00000346085.5 + 20 5815 c.5814G>T c.(5812-5814)caG>caT p.Q1938H ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1925H|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1978H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1920H NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1925 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CGCACTGGCAGGACTCGCTGG 0.552000 16 137 1.33834e-09 2.01667e-09 0.007413 1 0 MAPKAPK5 8550 broad.mit.edu 37 12 112323825 112323825 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:112323825G>T ENST00000550735.2 + 10 1710 c.954G>T c.(952-954)caG>caT p.Q318H MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.Q318H NM_003668.2|NM_139078.1 NP_003659.2|NP_620777.1 Q8IW41 MAPK5_HUMAN mitogen-activated protein kinase-activated protein kinase 5 318 signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity endometrium(1)|lung(11)|ovary(1) 13 CTTCTGCTCAGCTGATGATGG 0.527000 11 93 1.58986e-06 2.34745e-06 0.008291 1 0 FOLH1 2346 broad.mit.edu 37 11 49207299 49207299 + Nonsense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:49207299C>A ENST00000340334.7 - 7 1071 c.703G>T c.(703-705)Gga>Tga p.G235* FOLH1_ENST00000356696.3_Nonsense_Mutation_p.G250*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.G250*|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.G235* NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 250 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ACACCACCTCCAGGAAGATTC 0.512000 10 53 1.76689e-08 2.63537e-08 0.006214 1 0 BRINP2 57795 broad.mit.edu 37 1 177245507 177245507 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:177245507G>C ENST00000361539.4 + 6 1261 c.949G>C c.(949-951)Gag>Cag p.E317Q FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 317 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCAGGCCATGGAGGACAGCCT 0.577000 3 40 0 0 0.000248 0 0 BEST3 144453 broad.mit.edu 37 12 70049076 70049076 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:70049076C>T ENST00000330891.5 - 10 1844 c.1618G>A c.(1618-1620)Gag>Aag p.E540K BEST3_ENST00000553096.1_Missense_Mutation_p.E434K|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.E327K NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 540 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TGCTGCTGCTCAGTCTTGCTT 0.597000 11 424 0 0 0.001855 0 0 ARMCX6 54470 broad.mit.edu 37 X 100871496 100871496 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:100871496C>G ENST00000539247.1 - 4 547 c.115G>C c.(115-117)Gag>Cag p.E39Q ARMCX6_ENST00000361910.4_Missense_Mutation_p.E39Q|ARMCX6_ENST00000538627.1_Missense_Mutation_p.E39Q|ARMCX6_ENST00000497931.1_Intron NM_001184768.1 NP_001171697.1 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 39 integral to membrane endometrium(3)|kidney(1)|liver(2)|lung(3) 9 tccccctcctcctccagcttc 0.542000 6 37 0 0 0.001984 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5182332 5182332 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:5182332G>T ENST00000274181.7 + 4 815 c.677G>T c.(676-678)tGg>tTg p.W226L ADAMTS16_ENST00000511368.1_Missense_Mutation_p.W226L NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 226 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TCAAGGACATGGGAGCTGGCA 0.577000 7 147 2.0095e-06 2.94726e-06 0.001984 1 0 VMA21 203547 broad.mit.edu 37 X 150572114 150572114 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:150572114C>T ENST00000330374.6 + 2 170 c.65C>T c.(64-66)tCa>tTa p.S22L VMA21_ENST00000370361.1_Missense_Mutation_p.S77L|VMA21_ENST00000477649.1_3'UTR NM_001017980.3 NP_001017980.1 Q3ZAQ7 VMA21_HUMAN VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) 22 vacuolar proton-transporting V-type ATPase complex assembly COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 7 AATGAAAGCTCATTAGCATCT 0.353000 23 179 0 0 0.002780 0 0 WHSC1 7468 broad.mit.edu 37 4 1962800 1962800 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:1962800C>T ENST00000382895.3 + 20 3725 c.3294C>T c.(3292-3294)gaC>gaT p.D1098D WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.D446D|WHSC1_ENST00000382891.5_Silent_p.D1098D|WHSC1_ENST00000382892.2_Silent_p.D1098D|WHSC1_ENST00000508803.1_Silent_p.D1098D NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 1098 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AGCTGATCGACGAGGAGGAGT 0.512000 T IGH@ MM 19 111 0 0 0.008871 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142970 31142970 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:31142970G>T ENST00000304166.4 + 14 1455 c.1166G>T c.(1165-1167)gGc>gTc p.G389V ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G368V|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G417V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G445V NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 389 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CTGGGGCTGGGCTCCTTCCAG 0.547000 12 61 1.08611e-07 1.61448e-07 0.000978 1 0 DSTN 11034 broad.mit.edu 37 20 17581458 17581458 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:17581458G>C ENST00000246069.6 + 2 425 c.79G>C c.(79-81)Gaa>Caa p.E27Q DSTN_ENST00000543261.1_Missense_Mutation_p.E10Q|DSTN_ENST00000474024.1_3'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 27 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 CTCCACACCAGAAGAAATCAA 0.383000 8 50 0 0 0.003080 0 0 TDRD7 23424 broad.mit.edu 37 9 100245169 100245169 + Silent SNP T T C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:100245169T>C ENST00000355295.4 + 15 2746 c.2451T>C c.(2449-2451)gtT>gtC p.V817V TDRD7_ENST00000422139.2_Silent_p.V743V|TDRD7_ENST00000492428.1_3'UTR|TDRD7_ENST00000540902.1_Silent_p.V137V NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 817 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TCGCACATGTTTATTTATTTA 0.368000 15 69 0 0 0.003163 0 0 ANXA3 306 broad.mit.edu 37 4 79503336 79503336 + Silent SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:79503336G>T ENST00000264908.6 + 5 583 c.204G>T c.(202-204)ctG>ctT p.L68L ANXA3_ENST00000512884.1_Silent_p.L29L|ANXA3_ENST00000503570.2_Silent_p.L29L NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 68 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TTTAGGAGCTGAAAGATGACT 0.393000 9 52 0.00621372 0.00876293 0.006214 1 0 IGHV7-81 28378 broad.mit.edu 37 14 107282959 107282959 + RNA SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr14:107282959G>C ENST00000390639.2 - 0 237 TCAAGCCCTTGTCCAGGGGCC 0.552000 21 119 0 0 0.001882 0 0 HIP1 3092 broad.mit.edu 37 7 75228554 75228554 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:75228554G>C ENST00000336926.6 - 2 158 c.132C>G c.(130-132)atC>atG p.I44M HIP1_ENST00000434438.2_Missense_Mutation_p.I44M NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 44 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.I44M(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGGCCTTATTGATGCTGACAG 0.507000 T PDGFRB CMML 17 168 0 0 0.002299 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147138 26147138 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:26147138C>A ENST00000331351.5 + 2 1332 c.940C>A c.(940-942)Ctg>Atg p.L314M HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 314 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CTTTGAGGTGCTGGCCTTCAA 0.527000 26 205 8.24728e-16 1.28226e-15 0.004656 1 0 WNT3A 89780 broad.mit.edu 37 1 228248004 228248004 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:228248004G>A ENST00000366753.2 + 5 1204 c.1157G>A c.(1156-1158)tGa>tAa p.*386* WNT3A_ENST00000284523.1_3'UTR P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 0 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) AAGGTTCCATGAAGCGAGTCG 0.657000 13 105 0 0 0.001855 0 0 BEST3 144453 broad.mit.edu 37 12 70065208 70065208 + Splice_Site SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:70065208C>T ENST00000330891.5 - 9 1326 c.1100_splice c.e9+1 p.G367_splice BEST3_ENST00000553096.1_Splice_Site_p.G261_splice|BEST3_ENST00000331471.4_Splice_Site_p.G367_splice|BEST3_ENST00000476098.1_Splice_Site_p.G154_splice|BEST3_ENST00000488961.1_Splice_Site_p.G154_splice NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 367 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) ATGCACTTACCCCATCTGGAC 0.388000 10 150 0 0 0.001368 0 0 OR7A17 26333 broad.mit.edu 37 19 14992104 14992104 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:14992104C>G ENST00000327462.2 - 1 160 c.64G>C c.(64-66)Gaa>Caa p.E22Q NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) GGCTGCAATTCTGGTTCCTCA 0.413000 5 29 0 0 0.001168 0 0 GPR112 139378 broad.mit.edu 37 X 135405147 135405147 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chrX:135405147G>A ENST00000394143.1 + 5 572 c.281G>A c.(280-282)gGa>gAa p.G94E GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.G94E|GPR112_ENST00000287534.4_Missense_Mutation_p.G31E NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 94 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGACTTGCAGGAGACCATCAG 0.433000 20 132 0 0 0.001523 0 0 PHOX2B 8929 broad.mit.edu 37 4 41747895 41747895 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:41747895C>T ENST00000226382.2 - 3 1233 c.874G>A c.(874-876)Gcc>Acc p.A292T NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 292 A -> G (in Ref. 1; BAA11555, 2; AAD26698 and 3; BAA82670). positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 AGGACGCTGGCGAAGGGACCC 0.677000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 8 69 0 0 0.008291 0 0 GSG1 83445 broad.mit.edu 37 12 13240941 13240941 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:13240941G>A ENST00000396302.3 - 4 748 c.550C>T c.(550-552)Cat>Tat p.H184Y GSG1_ENST00000351606.6_Missense_Mutation_p.H220Y|GSG1_ENST00000337630.6_Silent_p.F142F|GSG1_ENST00000432710.2_Silent_p.F155F|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000324458.8_Silent_p.F178F|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000537302.1_Intron NM_031289.3 NP_112579.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 0 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GGAAGCTGATGAATTGAAGTC 0.512000 16 113 0 0 0.006122 0 0 ABRA 137735 broad.mit.edu 37 8 107773358 107773358 + Silent SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:107773358G>C ENST00000311955.3 - 2 1107 c.1053C>G c.(1051-1053)ctC>ctG p.L351L NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 351 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TGGCACGCATGAGAATGCCCA 0.468000 4 184 0 0 0.000248 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221479 10221479 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:10221479G>A ENST00000428358.1 + 11 1310 c.1138G>A c.(1138-1140)Gat>Aat p.D380N PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.D380N|PPAN_ENST00000556468.1_Missense_Mutation_p.D380N|PPAN_ENST00000393793.1_Missense_Mutation_p.D327N|PPAN_ENST00000253107.7_Missense_Mutation_p.D380N NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 380 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TGAGGACGATGATGAACAGGA 0.612000 34 160 0 0 0.004289 0 0 TLR10 81793 broad.mit.edu 37 4 38776315 38776315 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:38776315C>T ENST00000308973.4 - 4 1502 c.897G>A c.(895-897)atG>atA p.M299I TLR10_ENST00000506111.1_Missense_Mutation_p.M299I|TLR10_ENST00000508334.1_Missense_Mutation_p.M299I|TLR10_ENST00000361424.2_Missense_Mutation_p.M299I NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 299 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TTATAGTTCTCATTACAGTAT 0.343000 5 54 0 0 0.000602 0 0 ELP4 26610 broad.mit.edu 37 11 31784960 31784960 + Splice_Site SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:31784960G>C ENST00000395934.2 + 11 1441 c.1432_splice c.e11-1 p.V478_splice Z83001.1_ENST00000429821.1_RNA|Z83001.1_ENST00000454509.1_RNA|ELP4_ENST00000379163.5_Splice_Site_p.W383_splice|Z83001.1_ENST00000434742.1_RNA|ELP4_ENST00000350638.5_Intron Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 0 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) CTGAGGCAGTGGGTGCAAGAC 0.418000 8 75 0 0 0.003080 0 0 LRP2 4036 broad.mit.edu 37 2 170145598 170145598 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:170145598C>G ENST00000263816.3 - 9 1265 c.980G>C c.(979-981)gGa>gCa p.G327A LRP2_ENST00000443831.1_Missense_Mutation_p.G327A NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 327 EGF-like 1. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.G327V(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACACGCTCCTCCATACGGCGT 0.483000 13 105 0 0 0.001855 0 0 ZP4 57829 broad.mit.edu 37 1 238046082 238046082 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:238046082C>T ENST00000366570.4 - 11 1613 c.1455G>A c.(1453-1455)atG>atA p.M485I RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 485 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGAGTAGAATCATGGGGCCTT 0.393000 13 65 0 0 0.003163 0 0 TRHR 7201 broad.mit.edu 37 8 110131366 110131366 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr8:110131366C>T ENST00000518632.1 + 3 1230 c.879C>T c.(877-879)tcC>tcT p.S293S TRHR_ENST00000311762.2_Silent_p.S293S P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 293 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) CATTTCTCTCCAGTCCTTTCC 0.423000 24 247 0 0 0.003954 0 0 ARL2BP 23568 broad.mit.edu 37 16 57286145 57286145 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:57286145C>T ENST00000219204.3 + 6 728 c.458C>T c.(457-459)tCt>tTt p.S153F RP11-407G23.3_ENST00000564376.1_RNA|ARL2BP_ENST00000562023.1_Missense_Mutation_p.S113F NM_012106.3 NP_036238.1 Q9Y2Y0 AR2BP_HUMAN ADP-ribosylation factor-like 2 binding protein 153 maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle protein binding|small GTPase regulator activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1) 12 AAATCATCTTCTCTGCCAGCT 0.478000 4 68 0 0 0.000602 0 0 CABIN1 23523 broad.mit.edu 37 22 24509680 24509680 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:24509680C>T ENST00000398319.2 + 27 4650 c.4265C>T c.(4264-4266)aCg>aTg p.T1422M CABIN1_ENST00000405822.2_Missense_Mutation_p.T1343M|CABIN1_ENST00000263119.5_Missense_Mutation_p.T1422M NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1422 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCAGGAGCGACGGGTAAAGAT 0.517000 5 111 0 0 0.000602 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32632765 32632765 + Missense_Mutation SNP G G C rs41556424 TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:32632765G>C ENST00000399084.1 - 3 367 c.189C>G c.(187-189)atC>atG p.I63M HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.I63M|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.I63M|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.I63M|HLA-DQB1_ENST00000399082.3_Intron P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 63 Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCGGTTATAGATGTATCTGG 0.617000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 19 61 0 0 0.007413 0 0 ITPR3 3710 broad.mit.edu 37 6 33654857 33654857 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:33654857C>G ENST00000374316.5 + 45 7111 c.6051C>G c.(6049-6051)ctC>ctG p.L2017L ITPR3_ENST00000605930.1_Silent_p.L2017L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2017 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 AGCGAATCCTCATCAGCCTGC 0.667000 15 68 0 0 0.003163 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611964 44611964 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr3:44611964C>G ENST00000273320.3 + 6 1791 c.1362C>G c.(1360-1362)ctC>ctG p.L454L ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.L454L NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 GCTCCCATCTCATTCAACACC 0.473000 9 40 0 0 0.008291 0 0 GCNT1 2650 broad.mit.edu 37 9 79118113 79118113 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:79118113C>G ENST00000442371.1 + 3 1755 c.816C>G c.(814-816)gtC>gtG p.V272V GCNT1_ENST00000536223.1_Silent_p.V272V|GCNT1_ENST00000376730.4_Silent_p.V272V|GCNT1_ENST00000444201.2_Silent_p.V272V NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 272 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 CAGGGACTGTCAAAATGCTTC 0.458000 9 91 0 0 0.008291 0 0 MROH8 140699 broad.mit.edu 37 20 35752146 35752146 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:35752146G>A ENST00000400441.3 - 15 1841 c.1842C>T c.(1840-1842)ttC>ttT p.F614F MROH8_ENST00000217333.8_Silent_p.F443F|MROH8_ENST00000441008.2_Silent_p.F600F maestro heat-like repeat family member 8 GAAAGAGTCGGAACGTAGCTG 0.498000 8 56 0 0 0.003080 0 0 CNOT6L 246175 broad.mit.edu 37 4 78663394 78663394 + Missense_Mutation SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:78663394C>A ENST00000504123.1 - 8 903 c.773G>T c.(772-774)gGa>gTa p.G258V CNOT6L_ENST00000264903.4_Missense_Mutation_p.G258V|CNOT6L_ENST00000506166.1_5'UTR Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 258 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 TCCATCATATCCACGCTCCTT 0.393000 4 23 1.23904e-05 1.79927e-05 0.000602 1 0 TBC1D1 23216 broad.mit.edu 37 4 38016340 38016340 + Missense_Mutation SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:38016340G>A ENST00000261439.4 + 3 983 c.628G>A c.(628-630)Gag>Aag p.E210K TBC1D1_ENST00000508802.1_Missense_Mutation_p.E210K NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 210 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CCGGGGGTCCGAGAGCCCCCG 0.711000 8 47 0 0 0.003080 0 0 ASPN 54829 broad.mit.edu 37 9 95222019 95222019 + Silent SNP G G A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:95222019G>A ENST00000375544.3 - 7 1083 c.840C>T c.(838-840)atC>atT p.I280I ASPN_ENST00000375543.1_Intron|CENPP_ENST00000375587.3_Intron NM_017680.4 NP_060150.4 Q9BXN1 ASPN_HUMAN asporin 280 bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 TCCCATTTTCGATATCTGTGA 0.358000 4 20 0 0 0.000248 0 0 CACNA1C 775 broad.mit.edu 37 12 2706430 2706430 + Missense_Mutation SNP T T G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:2706430T>G ENST00000399655.1 + 21 3093 c.2828T>G c.(2827-2829)aTt>aGt p.I943S CACNA1C_ENST00000399634.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.I943S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.I943S|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399595.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I943S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399649.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000347598.4_Missense_Mutation_p.I943S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000335762.5_Missense_Mutation_p.I968S NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 943 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TTTACCACCATTTTCACCATT 0.493000 15 150 0 0 0.007413 0 0 GRID2 2895 broad.mit.edu 37 4 94006245 94006245 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr4:94006245C>T ENST00000282020.4 + 3 602 c.344C>T c.(343-345)cCc>cTc p.P115L GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 115 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATGCATATCCCCCACCTCTTC 0.562000 11 60 0 0 0.008291 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136376 40136376 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:40136376C>T ENST00000278198.2 - 2 3430 c.1467G>A c.(1465-1467)gtG>gtA p.V489V LRRC4C_ENST00000530763.1_Silent_p.V489V|LRRC4C_ENST00000527150.1_Silent_p.V489V|LRRC4C_ENST00000528697.1_Silent_p.V489V Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 489 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GAGAGGTGGTCACATTGGTGG 0.522000 11 38 0 0 0.008291 0 0 APLP1 333 broad.mit.edu 37 19 36362525 36362525 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:36362525C>T ENST00000221891.4 + 5 741 c.549C>T c.(547-549)tcC>tcT p.S183S APLP1_ENST00000586861.1_Silent_p.S177S|APLP1_ENST00000537454.2_Silent_p.S144S NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 183 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTGCAGCTCCCAGGGCCTCA 0.647000 13 63 0 0 0.002450 0 0 CDH7 1005 broad.mit.edu 37 18 63525118 63525118 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr18:63525118C>T ENST00000536984.2 + 8 1996 c.1302C>T c.(1300-1302)atC>atT p.I434I CDH7_ENST00000323011.3_Silent_p.I434I|CDH7_ENST00000397968.2_Silent_p.I434I Q9ULB5 CADH7_HUMAN cadherin 7, type 2 434 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GTGGGGTCATCACAACTGCCA 0.388000 9 41 0 0 0.008291 0 0 LRRC7 57554 broad.mit.edu 37 1 70555443 70555443 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:70555443G>C ENST00000310961.5 + 25 4664 c.4246G>C c.(4246-4248)Gga>Cga p.G1416R LRRC7_ENST00000035383.5_Missense_Mutation_p.G1458R|LRRC7_ENST00000415775.2_Missense_Mutation_p.G742R Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1458 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TCCTGGCCTTGGATTTAGTAT 0.289000 5 33 0 0 0.001168 0 0 NAV3 89795 broad.mit.edu 37 12 78444604 78444604 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:78444604C>T ENST00000397909.2 + 11 2366 c.2193C>T c.(2191-2193)ccC>ccT p.P731P NAV3_ENST00000536525.2_Silent_p.P731P|NAV3_ENST00000266692.7_Silent_p.P731P|NAV3_ENST00000228327.6_Silent_p.P731P Q8IVL0 NAV3_HUMAN neuron navigator 3 731 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GGACCATACCCAACTTGACAA 0.522000 HNSCC(70;0.22) 6 72 0 0 0.001984 0 0 HECW2 57520 broad.mit.edu 37 2 197189815 197189815 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:197189815C>G ENST00000260983.2 - 6 812 c.630G>C c.(628-630)aaG>aaC p.K210N HECW2_ENST00000409111.1_Intron NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 210 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GAATTGACATCTTAAGATAAG 0.468000 22 153 0 0 0.001882 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368669 145368669 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:145368669C>T ENST00000342960.5 + 84 10682 c.10647C>T c.(10645-10647)gtC>gtT p.V3549V NBPF10_ENST00000369339.2_Silent_p.V667V|NBPF10_ENST00000369338.1_Silent_p.V665V NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3549 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGATGGGAGTCATATTCCCAC 0.448000 22 466 0 0 0.008361 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802056 185802056 + Missense_Mutation SNP G G T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr2:185802056G>T ENST00000302277.6 + 4 2527 c.1933G>T c.(1933-1935)Gct>Tct p.A645S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 645 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GCAGTATTTAGCTGCAGAGCA 0.353000 14 127 2.32078e-09 3.48514e-09 0.003163 1 0 STAP2 55620 broad.mit.edu 37 19 4338667 4338667 + Silent SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr19:4338667C>T ENST00000600324.1 - 1 151 c.84G>A c.(82-84)aaG>aaA p.K28K STAP2_ENST00000594605.1_Silent_p.K28K NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 28 PH. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGCCCCTTCTTCTCTAGAA 0.652000 7 41 0 0 0.001984 0 0 TRPV4 59341 broad.mit.edu 37 12 110232288 110232288 + Missense_Mutation SNP C C A rs143502097 byFrequency TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:110232288C>A ENST00000418703.2 - 7 1431 c.1337G>T c.(1336-1338)cGc>cTc p.R446L TRPV4_ENST00000544971.1_Missense_Mutation_p.R339L|TRPV4_ENST00000346520.2_Missense_Mutation_p.R386L|TRPV4_ENST00000537083.1_Missense_Mutation_p.R386L|TRPV4_ENST00000392719.2_Missense_Mutation_p.R399L|TRPV4_ENST00000541794.1_Missense_Mutation_p.R399L|TRPV4_ENST00000261740.2_Missense_Mutation_p.R446L|TRPV4_ENST00000536838.1_Missense_Mutation_p.R412L NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 446 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CATCTCGTGGCGGTTCTAAGA 0.647000 11 93 1.61879e-10 2.4646e-10 0.001368 1 0 NUMA1 4926 broad.mit.edu 37 11 71717294 71717294 + Missense_Mutation SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:71717294C>G ENST00000393695.3 - 22 5810 c.5479G>C c.(5479-5481)Gag>Cag p.E1827Q NUMA1_ENST00000351960.6_Missense_Mutation_p.E691Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1813Q NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1827 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTGTCTGGCTCTTCCACATCT 0.562000 T RARA APL 5 45 0 0 0.000602 0 0 MUC5B 727897 broad.mit.edu 37 11 1275512 1275512 + Silent SNP C C G TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:1275512C>G ENST00000447027.1 + 34 15475 c.15417C>G c.(15415-15417)ctC>ctG p.L5139L MUC5B_ENST00000529681.1_Silent_p.L5136L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5136 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.L5091L(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCGCGCCCTCAGCATCCACT 0.622000 4 47 0 0 0.000248 0 0 C16orf62 57020 broad.mit.edu 37 16 19663357 19663357 + Silent SNP C C A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:19663357C>A ENST00000438132.3 + 26 2481 c.2433C>A c.(2431-2433)ctC>ctA p.L811L C16orf62_ENST00000543152.1_Silent_p.L471L|C16orf62_ENST00000448695.1_Silent_p.L572L|C16orf62_ENST00000251143.5_Silent_p.L722L|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000542263.1_Silent_p.L718L|C16orf62_ENST00000417362.2_Silent_p.L629L NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 722 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TCACACGTCTCAATCTCTACC 0.547000 5 20 3.59834e-05 5.19104e-05 0.001168 1 0 TLN1 7094 broad.mit.edu 37 9 35706061 35706061 + Missense_Mutation SNP C C T TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr9:35706061C>T ENST00000314888.9 - 41 5762 c.5409G>A c.(5407-5409)atG>atA p.M1803I TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1803 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGGCCTCGGTCATCATCTGCA 0.607000 16 103 0 0 0.004007 0 0 RP11-206L10.10 0 broad.mit.edu 37 1 745643 745643 + RNA DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:745643delC ENST00000435300.1 - 0 340 TTCAAAGTGACAGACTGTGGG 0.299 4 2 --- --- --- --- PAQR6 79957 broad.mit.edu 37 1 156214968 156214969 + Frame_Shift_Ins INS - - ATAGGCT TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr1:156214968_156214969insATAGGCT ENST00000335852.1 - 5 870_871 c.255_256insAGCCTAT c.(253-258)tacattfs p.YI85fs PAQR6_ENST00000292291.5_Frame_Shift_Ins_p.YI191fs|PAQR6_ENST00000368270.1_Frame_Shift_Ins_p.YI167fs|PAQR6_ENST00000356983.2_Frame_Shift_Ins_p.YI85fs|PAQR6_ENST00000360733.2_Frame_Shift_Ins_p.YI85fs|PAQR6_ENST00000540423.1_Frame_Shift_Ins_p.YI188fs|PAQR6_ENST00000492619.1_5'UTR NM_024897.2 NP_079173.2 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 191 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) AACAGGAATGGATAGGCGAAGG 0.604 9 103 --- --- --- --- KIAA0947 23379 broad.mit.edu 37 5 5461386 5461388 + In_Frame_Del DEL TCT TCT - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr5:5461386_5461388delTCT ENST00000296564.7 + 13 2161_2163 c.1939_1941delTCT c.(1939-1941)del p.S649del NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 649 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TAATCCCCAGTCTTCTTCTGGGT 0.389 9 205 --- --- --- --- EXOC2 55770 broad.mit.edu 37 6 637794 637794 + Frame_Shift_Del DEL G G - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr6:637794delG ENST00000230449.4 - 2 160 c.25delC c.(25-27)ttfs p.L9fs EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 9 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CCGGTCACAAGGGGGGGTTGT 0.483 25 209 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729440 41729440 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:41729440delC ENST00000242208.4 - 3 1335 c.1089delG c.(1087-1089)ggfs p.G363fs INHBA_ENST00000442711.1_Frame_Shift_Del_p.G363fs|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 363 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACAGTGAGGACCCGGACGTGC 0.567 TSP Lung(11;0.080) 13 92 --- --- --- --- MET 4233 broad.mit.edu 37 7 116412042 116412047 + Splice_Site DEL AGGTAT AGGTAT - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr7:116412042_116412047delAGGTAT ENST00000397752.3 + 14 3227_3228 c.3028_splice c.e14+1 p.E1009_splice MET_ENST00000318493.6_Splice_Site_p.E1027_splice NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1009 Breakpoint for translocation to form TPR- MET oncogene. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.?(6)|p.982_1028del47(4)|p.L982_D1028del(3)|p.D981_D1028del(1) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTTTTCCAGAAGGTATATTTCAGTTT 0.350 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 7 49 --- --- --- --- KNDC1 85442 broad.mit.edu 37 10 135009286 135009286 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr10:135009286delC ENST00000304613.3 + 10 1716 c.1695delC c.(1693-1695)cgfs p.R565fs KNDC1_ENST00000368571.2_Frame_Shift_Del_p.R500fs|KNDC1_ENST00000368572.2_Frame_Shift_Del_p.R565fs Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 565 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TGGCCAGGCGCAGTGCCCCGG 0.692 3 5 --- --- --- --- KCNQ1 3784 broad.mit.edu 37 11 2869199 2869199 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr11:2869199delC ENST00000155840.5 + 16 2105 c.1997delC c.(1996-1998)acfs p.T666fs KCNQ1_ENST00000335475.5_Frame_Shift_Del_p.T539fs|KCNQ1-AS1_ENST00000440887.2_RNA|KCNQ1_ENST00000526095.1_3'UTR NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 666 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GAGCAGCTGACCGTGCCCAGG 0.716 2 4 --- --- --- --- VPS33A 65082 broad.mit.edu 37 12 122729162 122729162 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr12:122729162delC ENST00000267199.4 - 7 1035 c.923delG c.(922-924)gcfs p.G308fs RP11-512M8.5_ENST00000535844.1_Frame_Shift_Del_p.G269fs NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 308 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GAGCACAGAGCCAACTGCGTT 0.507 16 69 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 10274229 10274229 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr16:10274229delC ENST00000396573.2 - 3 349 c.40delG c.(40-42)ccfs p.A14fs GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.A14fs|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.A14fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.A14fs|GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.A14fs NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 14 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACCAGAAGGGCCGGCAGCACC 0.677 7 35 --- --- --- --- ANKFN1 162282 broad.mit.edu 37 17 54452001 54452002 + In_Frame_Ins INS - - CAG TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr17:54452001_54452002insCAG ENST00000566473.2 + 7 845_846 c.845_846insCAG c.(844-846)aag>aCAGag p.282_282K>TE ANKFN1_ENST00000318698.2_In_Frame_Ins_p.282_282K>TE Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 282 Fibronectin type-III. p.T282S(1) NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 CTCATGGTAACCAGCAGCACAT 0.460 42 227 --- --- --- --- CPXM1 56265 broad.mit.edu 37 20 2779492 2779492 + Frame_Shift_Del DEL C C - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr20:2779492delC ENST00000380605.2 - 2 284 c.220delG c.(220-222)tcfs p.V74fs NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 74 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TTCATAATGACCTTTTTCTTC 0.577 28 121 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 7 112 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f11036-7ac4-41bc-a9a4-64162725fdfc 48a02a49-e77f-4a18-a2a2-3e28f13b25da g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 139 --- --- --- ---