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 RANBP9 10048 broad.mit.edu 37 6 13642747 13642747 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr6:13642747C>T ENST00000011619.3 - 7 1247 c.1189G>A c.(1189-1191)Gtt>Att p.V397I RANBP9_ENST00000539980.1_Missense_Mutation_p.V168I NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 397 LisH. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) TCTTCTAGAACGGTCTGGTCT 0.363000 15 32 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 5 120 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49636260 49636260 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:49636260G>A ENST00000334186.4 + 8 1231 c.882G>A c.(880-882)gcG>gcA p.A294A PPFIA3_ENST00000602351.1_Silent_p.A294A NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 294 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CTCCGCAGGCGCTGGCGCAGC 0.647000 4 22 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61234092 61234092 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr18:61234092G>A ENST00000382768.1 + 7 1126 c.1126G>A c.(1126-1128)Ggt>Agt p.G376S SERPINB12_ENST00000269491.1_Missense_Mutation_p.G356S Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 356 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 GGATGAAAACGGTACCCAGGC 0.458000 11 33 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22171640 22171640 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:22171640C>T ENST00000397126.4 - 2 223 c.75G>A c.(73-75)caG>caA p.Q25Q ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000601773.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATAAATTCTGCTGTGCAGTGT 0.398000 8 243 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330260 125330260 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr9:125330260C>T ENST00000304865.2 - 1 578 c.497G>A c.(496-498)cGt>cAt p.R166H NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GAAGGTGAGACGATTCAGCAG 0.498000 11 38 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32479071 32479071 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr22:32479071G>A ENST00000266088.4 + 7 844 c.594G>A c.(592-594)gcG>gcA p.A198A SLC5A1_ENST00000543737.1_Silent_p.A71A NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 198 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.A198A(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GGGGCCTGGCGGCGGTGATTT 0.572000 15 6 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551726 248551726 + Missense_Mutation SNP G G T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr1:248551726G>T ENST00000355728.2 + 1 817 c.817G>T c.(817-819)Gtc>Ttc p.V273F NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 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) CAAAGATAAGGTCTTCTCTGC 0.473000 18 39 2.94398e-08 3.10754e-08 1 1 0 ADI1 55256 broad.mit.edu 37 2 3517685 3517685 + Nonsense_Mutation SNP G G T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr2:3517685G>T ENST00000382093.5 - 2 3002 c.165C>A c.(163-165)taC>taA p.Y55* ADI1_ENST00000327435.6_Nonsense_Mutation_p.Y61* Q9BV57 MTND_HUMAN acireductone dioxygenase 1 61 L-methionine salvage from methylthioadenosine cytoplasm|nucleus|plasma membrane acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) CCATCCAGGAGTAGTTCCTCT 0.373000 6 42 0.217242 0.217242 1 1 0 USP26 83844 broad.mit.edu 37 X 132162098 132162098 + Missense_Mutation SNP G G A rs146792106 byFrequency TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chrX:132162098G>A ENST00000511190.1 - 6 620 c.151C>T c.(151-153)Cgg>Tgg p.R51W USP26_ENST00000370832.1_Missense_Mutation_p.R51W|USP26_ENST00000406273.1_Missense_Mutation_p.R51W NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 51 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TCACTTAGCCGAAAAGTGCTA 0.318000 7 28 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192251949 192251949 + Splice_Site SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr2:192251949G>A ENST00000392318.3 + 17 1801 c.e17-1 MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GCTGCTTATAGGTGCTGTACC 0.443000 16 35 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 54060262 54060262 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr1:54060262C>T ENST00000312233.2 - 3 880 c.314G>A c.(313-315)cGg>cAg p.R105Q NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 105 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 AGGGGGGCTCCGGAGTCCATT 0.662000 5 52 0 0 1 0 0 ADAP1 11033 broad.mit.edu 37 7 944779 944779 + Missense_Mutation SNP C C G TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr7:944779C>G ENST00000265846.5 - 5 638 c.419G>C c.(418-420)gGc>gCc p.G140A ADAP1_ENST00000449296.2_Missense_Mutation_p.G68A|ADAP1_ENST00000539900.1_Missense_Mutation_p.G151A|ADAP1_ENST00000463358.1_5'UTR NM_006869.2 NP_006860.1 O75689 ADAP1_HUMAN ArfGAP with dual PH domains 1 140 PH 1. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 6 GTTGTCCCGGCCACGCTTCCA 0.552000 13 88 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180056400 180056400 + Nonsense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr5:180056400G>A ENST00000261937.6 - 7 922 c.844C>T c.(844-846)Cga>Tga p.R282* FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R282*|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R282* NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 282 Ig-like C2-type 3. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGGGAGCGTCGCTCGGGCACC 0.662000 11 69 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7526068 7526068 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr12:7526068C>T ENST00000313599.3 - 14 3635 c.3578G>A c.(3577-3579)aGc>aAc p.S1193N CD163L1_ENST00000416109.2_Missense_Mutation_p.S1203N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1193N Q9NR16 C163B_HUMAN CD163 molecule-like 1 1193 SRCR 11. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AGGGGCGAGGCTGACAACTCC 0.552000 27 90 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35641873 35641873 + Splice_Site SNP T T C TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr17:35641873T>C ENST00000353139.5 - 4 820 c.e4-2 ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site|ACACA_ENST00000416895.1_Splice_Site|ACACA_ENST00000335166.5_Splice_Site NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ATGCTGGACCTATAAAAATAC 0.418000 11 62 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343448 130343448 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr11:130343448G>A ENST00000299164.2 + 8 2585 c.2585G>A c.(2584-2586)cGg>cAg p.R862Q NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 862 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CTGCAGAAGCGGGCGGTGGAC 0.746000 19 25 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18309134 18309134 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr11:18309134C>T ENST00000396253.3 - 17 2785 c.2323G>A c.(2323-2325)Gag>Aag p.E775K HPS5_ENST00000438420.2_Missense_Mutation_p.E775K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E889K NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 889 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GCCAAAAACTCAGCAGGATGA 0.428000 Hermansky-Pudlak syndrome 15 46 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 149 0 0 1 0 0 NCF4 4689 broad.mit.edu 37 22 37266498 37266498 + Silent SNP C C T rs144105468 TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr22:37266498C>T ENST00000397147.4 + 5 568 c.384C>T c.(382-384)gaC>gaT p.D128D NCF4_ENST00000248899.6_Silent_p.D128D NM_013416.3 NP_038202.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 128 PX. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TGGATGAGGACGTCCGGATCT 0.622000 50 19 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842045 8842045 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:8842045G>A ENST00000324060.2 + 1 730 c.655G>A c.(655-657)Ggc>Agc p.G219S NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CACCTCCTACGGCCACGTGTT 0.582000 25 79 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105037228 105037228 + Missense_Mutation SNP A A G TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr10:105037228A>G ENST00000369849.4 + 1 309 c.260A>G c.(259-261)tAc>tGc p.Y87C NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 87 Head. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACCAACGAGTACAAGATCATC 0.682000 4 10 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080647 194080647 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr3:194080647G>A ENST00000347624.3 - 2 1211 c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 376 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TGTCTGAGGCGGTTGTTCTGC 0.587000 8 13 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233160996 233160996 + Nonsense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr1:233160996G>A ENST00000258229.8 - 26 4735 c.4501C>T c.(4501-4503)Cag>Tag p.Q1501* PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q153* NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1501 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TACTGGGTCTGCGTGATTTCC 0.592000 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 124 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30854163 30854163 + Nonsense_Mutation SNP A A T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr8:30854163A>T ENST00000339382.2 - 2 1847 c.915T>A c.(913-915)tgT>tgA p.C305* NM_001015508.1 NP_001015508.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 0 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GCTTGATTTGACAACAGTGAA 0.338000 14 46 0 0 1 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48197800 48197800 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:48197800C>T ENST00000396720.3 + 8 2906 c.2712C>T c.(2710-2712)tcC>tcT p.S904S CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 904 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CTACGCCATCCGACTTCCAGC 0.701000 31 43 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455562 50455562 + Missense_Mutation SNP C C T rs140702198 byFrequency TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:50455562C>T ENST00000447370.2 - 9 1831 c.1741G>A c.(1741-1743)Gtc>Atc p.V581I CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 581 cell adhesion integral to membrane sugar binding p.V569I(1)|p.V581I(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TACCTGAAGACGACAAGGCAG 0.622000 14 118 0 0 1 0 0 TAAR8 83551 broad.mit.edu 37 6 132874647 132874647 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr6:132874647G>A ENST00000275200.1 + 1 816 c.816G>A c.(814-816)ccG>ccA p.P272P NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 272 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) CATGGTTACCGTATACAGTTG 0.413000 4 105 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43838610 43838610 + Missense_Mutation SNP C C A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr21:43838610C>A ENST00000319294.6 + 7 969 c.938C>A c.(937-939)gCc>gAc p.A313D UBASH3A_ENST00000398367.1_Missense_Mutation_p.A275D|UBASH3A_ENST00000291535.6_Missense_Mutation_p.A275D NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 313 SH3. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CAGGACGAAGCCAGCGAGGGC 0.597000 9 57 1.12685e-05 1.1636e-05 1 1 0 OR10J3 441911 broad.mit.edu 37 1 159284152 159284152 + Missense_Mutation SNP T T A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr1:159284152T>A ENST00000332217.5 - 1 297 c.298A>T c.(298-300)Act>Tct p.T100S NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AAGAGCTGAGTGGCACAGCTT 0.507000 24 53 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12977470 12977470 + Missense_Mutation SNP G G T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:12977470G>T ENST00000251472.4 + 18 2072 c.2033G>T c.(2032-2034)cGc>cTc p.R678L NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 678 AGC-kinase C-terminal. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCCCCAGCCCGCTCAGACAGG 0.592000 14 18 1.05317e-09 1.12417e-09 1 1 0 LGI3 203190 broad.mit.edu 37 8 22006354 22006354 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr8:22006354G>A ENST00000306317.2 - 8 1255 c.966C>T c.(964-966)gaC>gaT p.D322D LGI3_ENST00000424267.2_Silent_p.D298D NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 322 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CGCGCTGCGGGTCAATGTCTT 0.612000 16 16 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42931121 42931121 + Missense_Mutation SNP G G C TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:42931121G>C ENST00000244289.4 - 1 457 c.181C>G c.(181-183)Cag>Gag p.Q61E LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 61 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GGGGTCTCCTGCTGGGTGAGG 0.527000 5 188 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53596200 53596200 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr8:53596200G>A ENST00000025008.5 - 5 801 c.278C>T c.(277-279)tCg>tTg p.S93L RB1CC1_ENST00000435644.2_Missense_Mutation_p.S93L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S93L NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 93 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ATTTTCTGTCGAAAAGGTAGT 0.323000 8 31 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603421 5603421 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr12:5603421G>A ENST00000423158.3 + 2 292 c.80G>A c.(79-81)cGt>cAt p.R27H NTF3_ENST00000331010.6_Missense_Mutation_p.R14H|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 14 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 GCTTATCTCCGTGGCATCCAA 0.418000 5 72 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100963794 100963794 + Silent SNP C C A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr9:100963794C>A ENST00000375066.5 - 11 2515 c.2424G>T c.(2422-2424)cgG>cgT p.R808R TBC1D2_ENST00000375063.1_Silent_p.R348R|TBC1D2_ENST00000375064.1_Silent_p.R808R|TBC1D2_ENST00000342112.5_Silent_p.R590R NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 808 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CATCCCAGACCCGAAGGAGGA 0.607000 5 23 0.000602214 0.000615165 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11452289 11452289 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr7:11452289C>T ENST00000423059.3 - 18 3927 c.3676G>A c.(3676-3678)Gta>Ata p.V1226I AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1226 TSP type-1 12. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTACCTGTTACATTATAATCA 0.423000 HNSCC(18;0.044) 3 32 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919312 130919312 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr12:130919312G>A ENST00000261655.4 - 11 2332 c.2169C>T c.(2167-2169)gaC>gaT p.D723D RIMBP2_ENST00000536002.1_Silent_p.D631D|RIMBP2_ENST00000535703.1_Silent_p.D631D NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 723 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCAGGAAGTCGTCCACCGAGG 0.667000 20 119 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112522827 112522827 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr6:112522827G>A ENST00000230538.7 - 5 882 c.485C>T c.(484-486)gCt>gTt p.A162V LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 162 Laminin EGF-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GTTAGGTCCAGCATAATTTTC 0.388000 5 338 0 0 1 0 0 PROZ 8858 broad.mit.edu 37 13 113819403 113819403 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr13:113819403G>A ENST00000342783.4 + 7 615 c.608G>A c.(607-609)cGt>cAt p.R203H PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.R181H|RP11-98F14.11_ENST00000600642.1_RNA NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 181 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) TCTGAGAAGCGTGCACCGGAT 0.507000 5 31 0 0 1 0 0 RSPRY1 89970 broad.mit.edu 37 16 57238591 57238591 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr16:57238591C>T ENST00000537866.1 + 2 894 c.21C>T c.(19-21)gcC>gcT p.A7A RSPRY1_ENST00000394420.4_Silent_p.A7A Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 7 extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 TTGGTTGGGCCGTGTTCTTAG 0.463000 36 189 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27959167 27959167 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr17:27959167C>T ENST00000269033.3 - 15 3115 c.2964G>A c.(2962-2964)agG>agA p.R988R SSH2_ENST00000540801.1_Silent_p.R1015R|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 988 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAATCACAGTCCTCAGATCCT 0.517000 8 28 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228437713 228437713 + Nonsense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr1:228437713C>T ENST00000570156.2 + 15 4431 c.4357C>T c.(4357-4359)Cag>Tag p.Q1453* OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 431 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGGAAGGTGCAGGCCGAGGC 0.637000 4 85 0 0 1 0 0 TP53I3 9540 broad.mit.edu 37 2 24307151 24307151 + Missense_Mutation SNP A A G TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr2:24307151A>G ENST00000238721.4 - 1 900 c.46T>C c.(46-48)Tac>Cac p.Y16H FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.Y16H|TP53I3_ENST00000335934.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000313482.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000417886.1_5'UTR NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 16 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTTCACGTAGAGGTTTTCC 0.642000 OREG0014492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 23 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033760 52033760 + Missense_Mutation SNP G G A rs148934624 by1000genomes TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:52033760G>A ENST00000359982.4 - 4 863 c.718C>T c.(718-720)Cgg>Tgg p.R240W SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000425629.3_Intron NM_001177548.1 NP_001171019.1 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 236 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AGAGGTGGCCGCCTCAACATC 0.582000 4 47 0 0 1 0 0 ACTR2 10097 broad.mit.edu 37 2 65473766 65473766 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr2:65473766G>A ENST00000260641.5 + 3 425 c.268G>A c.(268-270)Gac>Aac p.D90N ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Missense_Mutation_p.D35N|ACTR2_ENST00000377982.4_Missense_Mutation_p.D95N NM_005722.3 NP_005713.1 P61160 ARP2_HUMAN ARP2 actin-related protein 2 homolog (yeast) 90 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm actin binding|ATP binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 12 ACACCTGTGGGACTACACATT 0.383000 25 107 0 0 1 0 0 ZNF358 140467 broad.mit.edu 37 19 7585112 7585112 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:7585112C>T ENST00000597229.1 + 2 1154 c.984C>T c.(982-984)ttC>ttT p.F328F CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Silent_p.F328F NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 328 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 GCAAAGCCTTCGGGCAGAGCT 0.701000 79 73 0 0 1 0 0 CLK4 57396 broad.mit.edu 37 5 178030707 178030707 + Nonsense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr5:178030707G>A ENST00000316308.4 - 13 1525 c.1357C>T c.(1357-1359)Cga>Tga p.R453* NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 453 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|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) all cancers(165;0.235) AACATTCTTCGAACCAGGTCA 0.318000 14 34 0 0 1 0 0 CTD-2139B15.2 0 broad.mit.edu 37 5 17354535 17354535 + RNA SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr5:17354535C>T ENST00000511821.1 + 0 394 FTH1P10_ENST00000401830.3_RNA GTCGTCATGGCGGCGACTAAG 0.682000 3 25 0 0 1 0 0 CSF2 1437 broad.mit.edu 37 5 131409549 131409549 + Silent SNP T T G TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr5:131409549T>G ENST00000296871.2 + 1 67 c.33T>G c.(31-33)acT>acG p.T11T NM_000758.3 NP_000749.2 P04141 CSF2_HUMAN colony stimulating factor 2 (granulocyte-macrophage) 11 immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity skin(1) 1 all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Sargramostim(DB00020) TCTTGGGCACTGTGGCCTGCA 0.602000 11 79 0 0 1 0 0 GRM3 0 broad.mit.edu 37 7 86469169 86469169 + Missense_Mutation SNP T T C TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr7:86469169T>C ENST00000361669.2 + 4 3438 c.2339T>C c.(2338-2340)aTc>aCc p.I780T GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.I372T|GRM3_ENST00000536043.1_Missense_Mutation_p.I652T NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 780 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACCACGTGCATCATCTGGTTG 0.413000 5 135 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060649 35060649 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr20:35060649G>A ENST00000373913.3 + 3 1009 c.529G>A c.(529-531)Ggc>Agc p.G177S DLGAP4_ENST00000373907.2_Missense_Mutation_p.G177S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G177S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G177S Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 177 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CATGGAGGACGGCAAGGGCCG 0.642000 6 88 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7900165 7900165 + Nonsense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr5:7900165G>A ENST00000264668.2 + 15 2202 c.2172G>A c.(2170-2172)tgG>tgA p.W724* MTRR_ENST00000440940.2_Nonsense_Mutation_p.W697* NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 724 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) AGGATATTTGGTCATAAAACC 0.323000 6 111 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50480124 50480124 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr22:50480124C>T ENST00000266182.6 - 7 755 c.756G>A c.(754-756)acG>acA p.T252T TTLL8_ENST00000440475.1_Silent_p.T252T tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CATCTGCTGACGTGTCGATGT 0.632000 9 6 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35463135 35463135 + Silent SNP G G A rs150252565 TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr11:35463135G>A ENST00000378880.2 - 7 1372 c.927C>T c.(925-927)acC>acT p.T309T PAMR1_ENST00000378878.3_Silent_p.T198T|PAMR1_ENST00000278360.3_Silent_p.T326T|PAMR1_ENST00000532848.1_Silent_p.T269T NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 309 Sushi 1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 AAGACACCACGGTGCCAATTT 0.493000 19 83 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140374051 140374051 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr7:140374051C>T ENST00000072869.4 + 1 1099 c.921C>T c.(919-921)tcC>tcT p.S307S ADCK2_ENST00000476491.1_Silent_p.S307S NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 307 Protein kinase. S -> P (in dbSNP:rs1140034). integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) ACCTCATCTCCGTGGCAGTGA 0.552000 11 80 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566788 4566788 + Missense_Mutation SNP A A C TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr11:4566788A>C ENST00000360213.1 + 1 368 c.368A>C c.(367-369)gAt>gCt p.D123A NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGCTTTTGATCGCTACGTG 0.537000 29 29 0 0 1 0 0 CWC15 51503 broad.mit.edu 37 11 94704160 94704160 + Missense_Mutation SNP G G C TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr11:94704160G>C ENST00000279839.6 - 4 436 c.314C>G c.(313-315)gCa>gGa p.A105G CWC15_ENST00000545018.1_5'UTR NM_016403.3 NP_057487.2 Q9P013 CWC15_HUMAN CWC15 spliceosome-associated protein homolog (S. cerevisiae) 105 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome protein binding|RNA binding Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGGGTCATCTGCATCAAGGTT 0.378000 11 135 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080741 5080741 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr11:5080741G>A ENST00000321522.2 - 1 116 c.117C>T c.(115-117)atC>atT p.I39I NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CTATGAGTGCGATCATGTACA 0.512000 5 30 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28259949 28259949 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr15:28259949C>T ENST00000354638.3 - 9 1172 c.1017G>A c.(1015-1017)gcG>gcA p.A339A OCA2_ENST00000382996.2_Silent_p.A339A|OCA2_ENST00000353809.5_Silent_p.A339A NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 339 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CGTAGACGCCCGCGAGGATGG 0.587000 Oculocutaneous Albinism 14 30 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444015 20444015 + Missense_Mutation SNP G G A rs139377821 by1000genomes TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr14:20444015G>A ENST00000305051.5 + 1 413 c.338G>A c.(337-339)cGc>cAc p.R113H NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R113H(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGTTGAGCGCAAGACTATT 0.453000 18 65 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19654989 19654989 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:19654989C>T ENST00000586018.1 + 8 1755 c.1653C>T c.(1651-1653)gcC>gcT p.A551A CILP2_ENST00000291495.4_Silent_p.A545A Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 545 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CTCGAGGTGCCGGCGTGTACC 0.612000 18 91 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008525 88008525 + Missense_Mutation SNP A A C TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chrX:88008525A>C ENST00000276127.4 + 3 369 c.110A>C c.(109-111)gAt>gCt p.D37A CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37A NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 37 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 CCATCTGCTGATCCCAATATG 0.443000 9 5 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11143984 11143984 + Missense_Mutation SNP C C G TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr19:11143984C>G ENST00000358026.2 + 26 3849 c.3565C>G c.(3565-3567)Cga>Gga p.R1189G SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189G NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1189 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGCGCAGGACCGAGCCCACCG 0.612000 """F, N, Mis""" NSCLC 4 88 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 148 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67817253 67817253 + Nonsense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr18:67817253C>T ENST00000255674.6 - 16 2412 c.2126G>A c.(2125-2127)tGg>tAg p.W709* RTTN_ENST00000437017.1_Nonsense_Mutation_p.W709*|RTTN_ENST00000454359.1_Nonsense_Mutation_p.W709* NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 709 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AAACTTGTTCCAGGTCAATGC 0.428000 6 47 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212652796 212652796 + Silent SNP T T C TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr2:212652796T>C ENST00000342788.4 - 4 820 c.510A>G c.(508-510)ccA>ccG p.P170P ERBB4_ENST00000436443.1_Silent_p.P170P|ERBB4_ENST00000402597.1_Silent_p.P170P|ERBB4_ENST00000484474.1_5'UTR NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 170 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGGAAGGCCATGGGTTCCGAA 0.363000 TSP Lung(8;0.080) 26 26 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4798523 4798523 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr17:4798523G>A ENST00000355280.6 + 25 3267 c.3071G>A c.(3070-3072)tGt>tAt p.C1024Y MINK1_ENST00000453408.3_Missense_Mutation_p.C1004Y|MINK1_ENST00000347992.7_Missense_Mutation_p.C995Y NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 1024 CNH.|Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 GAGATCCTCTGTGCAGCCCTT 0.597000 13 38 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159566103 159566103 + Silent SNP T T G TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr4:159566103T>G ENST00000307765.5 + 15 1409 c.1158T>G c.(1156-1158)gtT>gtG p.V386V RXFP1_ENST00000470033.1_Silent_p.V353V|RXFP1_ENST00000460056.2_Silent_p.V305V|RXFP1_ENST00000448688.2_Silent_p.V281V|RXFP1_ENST00000343542.5_Silent_p.V338V NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 386 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CACCACATGTTCGCAGCTGTA 0.368000 6 18 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 62 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51656142 51656142 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr6:51656142G>A ENST00000371117.3 - 53 8607 c.8332C>T c.(8332-8334)Cca>Tca p.P2778S PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2778 G8 2. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTGAAGAATGGAAGATCTGTA 0.453000 14 25 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4937616 4937616 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr17:4937616C>T ENST00000512825.2 - 3 1579 c.168G>A c.(166-168)gcG>gcA p.A56A SLC52A1_ENST00000424747.1_Silent_p.A56A|SLC52A1_ENST00000254853.5_Silent_p.A56A Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 56 integral to plasma membrane receptor activity|riboflavin transporter activity GGTTTCCCAGCGCCACAACCA 0.617000 9 72 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135601935 135601935 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr5:135601935C>T ENST00000513104.1 - 5 1600 c.1318G>A c.(1318-1320)Gaa>Aaa p.E440K TRPC7_ENST00000355180.3_Missense_Mutation_p.E379K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E324K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 440 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATGAGCATTTCTGTCCAGGAG 0.378000 15 191 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 60 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49626567 49626567 + Silent SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr20:49626567G>A ENST00000371571.4 - 2 594 c.309C>T c.(307-309)aaC>aaT p.N103N KCNG1_ENST00000396017.3_Silent_p.N103N NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 103 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CATCGCACACGTTGAGGATGT 0.637000 10 63 0 0 1 0 0 KLRB1 3820 broad.mit.edu 37 12 9760369 9760369 + Missense_Mutation SNP G G T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr12:9760369G>T ENST00000229402.3 - 1 113 c.67C>A c.(67-69)Cct>Act p.P23T NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 23 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 AGAGATGAAGGTGAAGAACTT 0.413000 8 65 3.09899e-07 3.2352e-07 1 1 0 GRM8 0 broad.mit.edu 37 7 126173225 126173225 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr7:126173225C>T ENST00000339582.2 - 9 3019 c.2211G>A c.(2209-2211)agG>agA p.R737R GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.R737R|GRM8_ENST00000358373.3_Silent_p.R737R O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 737 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGAGCACTCCCCTGGCCTTCT 0.473000 HNSCC(24;0.065) 8 37 0 0 1 0 0 SBP1 0 broad.mit.edu 37 6 33663364 33663364 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr6:33663364C>T ENST00000594414.1 - 1 110 c.111G>A c.(109-111)gcG>gcA p.A37A ITPR3_ENST00000374316.5_Intron|ITPR3_ENST00000605930.1_Intron GGCCCTGGCCCGCCGCCAGTG 0.612000 5 19 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142500615 142500615 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr5:142500615C>T ENST00000378004.3 + 18 1956 c.1601C>T c.(1600-1602)cCc>cTc p.P534L ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P534L NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 534 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGTTTGGACCCACTCTGCTG 0.438000 18 152 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113461096 113461096 + Missense_Mutation SNP C C G TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr4:113461096C>G ENST00000505019.1 - 27 6220 c.6095G>C c.(6094-6096)aGg>aCg p.R2032T RP11-402J6.1_ENST00000504009.1_RNA NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CAACAAATGCCTCTTTCCTCT 0.368000 21 30 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79310181 79310181 + Silent SNP C C T rs146264269 by1000genomes TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr15:79310181C>T ENST00000419573.3 - 12 1948 c.1674G>A c.(1672-1674)ccG>ccA p.P558P RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P558P NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 558 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.P558P(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CTGTAAAGGGCGGGGAATCCT 0.512000 27 49 0 0 1 0 0 SGK223 0 broad.mit.edu 37 8 8175831 8175831 + Missense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr8:8175831C>T ENST00000520004.1 - 6 4318 c.4054G>A c.(4054-4056)Gac>Aac p.D1352N SGK223_ENST00000330777.4_Missense_Mutation_p.D1352N Q86YV5 SG223_HUMAN 1352 ATP binding|non-membrane spanning protein tyrosine kinase activity CGCTTCATGTCGATCCAGTTG 0.677000 70 84 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395583 154395583 + Nonsense_Mutation SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr5:154395583C>T ENST00000435029.4 + 1 2324 c.2164C>T c.(2164-2166)Cga>Tga p.R722* NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 722 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCAGAAACAACGAGAGGTCAC 0.468000 4 90 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72843053 72843053 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr17:72843053G>A ENST00000293190.5 - 10 2154 c.2008C>T c.(2008-2010)Cgg>Tgg p.R670W GRIN2C_ENST00000347612.4_Missense_Mutation_p.R670W NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 670 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TCTTGAGGCCGCTGAAACTGC 0.627000 4 90 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7700732 7700732 + Missense_Mutation SNP G G A TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr17:7700732G>A ENST00000572933.1 + 52 9424 c.7964G>A c.(7963-7965)cGg>cAg p.R2655Q DNAH2_ENST00000389173.2_Missense_Mutation_p.R2655Q Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2655 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTCTCTGACCGGCTGGTTGAT 0.547000 5 152 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39506828 39506828 + Silent SNP G G A rs144512034 byFrequency TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr17:39506828G>A ENST00000007735.3 - 1 236 c.192C>T c.(190-192)aaC>aaT p.N64N NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 64 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) CCAGGCGGTCGTTCAGGAACT 0.622000 5 104 0 0 1 0 0 IGFBP6 3489 broad.mit.edu 37 12 53491737 53491737 + Frame_Shift_Del DEL C C - TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx bea94fbb-f011-4935-8e9d-b8452ce318a9 39cfb03f-5c7d-495e-99ec-a997d1bfd9a6 g.chr12:53491737delC ENST00000548547.1 + 1 518 c.236delC c.(235-237)gcfs p.A79fs IGFBP6_ENST00000301464.3_Frame_Shift_Del_p.A79fs P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 79 IGFBP N-terminal. negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 CCTAACTGCGCCCCAGGACTG 0.726 2 4 --- --- --- ---