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 TUBB8P7 0 broad.mit.edu 37 16 90161852 90161852 + RNA SNP A A G rs11076666 by1000genomes TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr16:90161852A>G ENST00000567960.1 + 0 588 TUBB8P7_ENST00000564451.1_RNA TAGAAAACGCAGATGAGACCT 0.498000 4 64 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53635851 53635851 + Missense_Mutation SNP G G A TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chrX:53635851G>A ENST00000342160.3 - 23 2738 c.2281C>T c.(2281-2283)Cgt>Tgt p.R761C HUWE1_ENST00000218328.8_Missense_Mutation_p.R761C|HUWE1_ENST00000262854.6_Missense_Mutation_p.R761C Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 761 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATAGGAATACGTTCCTCTGTA 0.388000 24 52 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241966 3241966 + Missense_Mutation SNP A A G rs147548313 TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chrX:3241966A>G ENST00000217939.6 - 5 1914 c.1760T>C c.(1759-1761)aTt>aCt p.I587T NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 587 Ig-like C2-type 2. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTTCTTGCCAATTGTCACTGT 0.488000 11 16 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655920 19655920 + Missense_Mutation SNP C C T TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr19:19655920C>T ENST00000586018.1 + 8 2686 c.2584C>T c.(2584-2586)Cgt>Tgt p.R862C CILP2_ENST00000291495.4_Missense_Mutation_p.R856C Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 856 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 CGCCTTCAAGCGTAACGGCTT 0.697000 14 33 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123615678 123615678 + Missense_Mutation SNP C C A TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chrX:123615678C>A ENST00000422452.2 - 22 3916 c.3853G>T c.(3853-3855)Gtg>Ttg p.V1285L TENM1_ENST00000371130.3_Missense_Mutation_p.V1278L|TENM1_ENST00000461429.1_5'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CCTGCCACCACTTCAAAATTC 0.468000 7 80 2.7689e-08 3.11501e-08 1 1 0 LRFN5 145581 broad.mit.edu 37 14 42355903 42355903 + Silent SNP C C A TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr14:42355903C>A ENST00000554171.1 + 5 2507 c.75C>A c.(73-75)gtC>gtA p.V25V LRFN5_ENST00000298119.4_Silent_p.V25V|LRFN5_ENST00000554120.1_Silent_p.V25V Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 25 LRRNT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AGCGTTGTGTCTGTCAGATTT 0.403000 HNSCC(30;0.082) 12 20 0.000978159 0.00100611 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803480 142803480 + RNA SNP T T C TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr1:142803480T>C ENST00000423385.1 - 0 1485 GATTTTAATATTCTGTACATT 0.343000 5 62 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725408 38725408 + Missense_Mutation SNP C C G TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr7:38725408C>G ENST00000409072.3 - 2 1132 c.198G>C c.(196-198)agG>agC p.R66S family with sequence similarity 183, member B endometrium(1)|lung(7) 8 GATTCAGAAACCTGGCGTCTG 0.542000 26 48 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32841871 32841871 + Missense_Mutation SNP C C T TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr22:32841871C>T ENST00000397452.1 - 5 597 c.487G>A c.(487-489)Gcc>Acc p.A163T BPIFC_ENST00000300399.3_Missense_Mutation_p.A163T|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 163 extracellular region lipopolysaccharide binding|phospholipid binding CTCAGTTGGGCGTAGCAATCT 0.522000 3 23 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188426084 188426084 + Silent SNP G G A rs149905073 byFrequency TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr3:188426084G>A ENST00000312675.4 + 7 1389 c.1143G>A c.(1141-1143)tcG>tcA p.S381S LPP_ENST00000543006.1_Silent_p.S381S|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Silent_p.S381S NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 381 cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TGGGGCCTTCGTCAGTTGCCC 0.507000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 4 62 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 55 92 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140166057 140166057 + Missense_Mutation SNP C C T TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr5:140166057C>T ENST00000504120.2 + 1 182 c.182C>T c.(181-183)cCt>cTt p.P61L PCDHA1_ENST00000378133.3_Missense_Mutation_p.P61L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P61L NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGGTGCCTCGCCTGTTC 0.592000 15 84 0 0 1 0 0 NKG7 4818 broad.mit.edu 37 19 51875739 51875739 + Missense_Mutation SNP C C T TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr19:51875739C>T ENST00000221978.5 - 1 230 c.51G>A c.(49-51)atG>atA p.M17I NKG7_ENST00000600427.1_Missense_Mutation_p.M17I|NKG7_ENST00000595217.1_Missense_Mutation_p.M17I NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 17 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCAGGCAGAACATCAGGCCCA 0.622000 26 53 0 0 1 0 0 NDRG4 65009 broad.mit.edu 37 16 58542903 58542903 + Missense_Mutation SNP C C A TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr16:58542903C>A ENST00000394282.4 + 13 1330 c.923C>A c.(922-924)aCc>aAc p.T308N NDRG4_ENST00000562999.1_Missense_Mutation_p.T256N|NDRG4_ENST00000566192.1_Missense_Mutation_p.T256N|NDRG4_ENST00000570248.1_Missense_Mutation_p.T256N|NDRG4_ENST00000569923.1_Missense_Mutation_p.T201N|NDRG4_ENST00000394279.2_Missense_Mutation_p.T288N|NDRG4_ENST00000568640.1_Missense_Mutation_p.T274N|NDRG4_ENST00000563799.1_Missense_Mutation_p.T274N|NDRG4_ENST00000258187.5_Missense_Mutation_p.T288N|NDRG4_ENST00000356752.4_Missense_Mutation_p.T286N NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 256 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 ACCACTACGACCTTCCTGAAG 0.632000 3 31 0.115264 0.115264 1 1 0 LCN15 389812 broad.mit.edu 37 9 139658396 139658396 + Silent SNP G G A TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr9:139658396G>A ENST00000316144.5 - 2 186 c.162C>T c.(160-162)gaC>gaT p.D54D LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 54 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 TGGACAGGTGGTCCTTCTTGC 0.642000 9 105 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162186 90162186 + RNA SNP T T C rs4299156 TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr16:90162186T>C ENST00000567960.1 + 0 922 TUBB8P7_ENST00000564451.1_RNA ACCCCCGTCATGGCCGCTACC 0.562000 5 106 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242135327 242135327 + Missense_Mutation SNP G G A TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr2:242135327G>A ENST00000402530.3 + 4 638 c.535G>A c.(535-537)Gca>Aca p.A179T ANO7_ENST00000274979.8_Intron|ANO7_ENST00000402430.3_Intron NM_001001666.3 NP_001001666.1 Q6IWH7 ANO7_HUMAN anoctamin 7 0 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 TGACCTTGCCGCATGAGGCCT 0.632000 3 36 0 0 1 0 0 PTPRA 0 broad.mit.edu 37 20 3016532 3016532 + Missense_Mutation SNP G G A TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr20:3016532G>A ENST00000216877.6 + 21 2516 c.2116G>A c.(2116-2118)Gcc>Acc p.A706T PTPRA_ENST00000399903.2_Missense_Mutation_p.A715T|PTPRA_ENST00000425918.2_Missense_Mutation_p.A726T|PTPRA_ENST00000380393.3_Missense_Mutation_p.A715T|PTPRA_ENST00000356147.3_Missense_Mutation_p.A706T|PTPRA_ENST00000318266.5_Missense_Mutation_p.A706T|PTPRA_ENST00000358719.4_Missense_Mutation_p.A571T NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 715 Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CATCATCGCCGCCGTGCAGAA 0.602000 40 58 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46008279 46008279 + Silent SNP C C A TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr3:46008279C>A ENST00000296137.2 - 8 2752 c.2547G>T c.(2545-2547)tcG>tcT p.S849S FYCO1_ENST00000535325.1_Silent_p.S849S NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 849 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) CTTCACGCTCCGAGCATTGCA 0.627000 8 27 0.000157383 0.000166641 1 1 0 MALAT1 0 broad.mit.edu 37 11 65272905 65272905 + RNA SNP T T C TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr11:65272905T>C ENST00000534336.1 + 0 7673 NR_002819.2 CTCTTAATAATAAAGCCCAAA 0.463000 33 45 0 0 1 0 0 AC096574.4 0 broad.mit.edu 37 2 239141505 239141505 + RNA SNP A A G rs148845540 TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr2:239141505A>G ENST00000456601.1 + 0 906 TTTTGGTGCAACAATTGGTTG 0.498000 4 44 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20388907 20388907 + Missense_Mutation SNP A A T TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr14:20388907A>T ENST00000315915.4 + 1 167 c.142A>T c.(142-144)Aca>Tca p.T48S NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTATCCTCACAGTGACTTC 0.408000 10 258 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274518 39274518 + Missense_Mutation SNP C C T rs9897031 by1000genomes TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr17:39274518C>T ENST00000391413.2 - 1 88 c.50G>A c.(49-51)cGa>cAa p.R17Q NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 17 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGAGGTCTCGGCCACAGCC 0.592000 3 33 0 0 1 0 0 TMEM260 54916 broad.mit.edu 37 14 57088388 57088388 + Silent SNP T T C TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr14:57088388T>C ENST00000261556.6 + 11 1488 c.1366T>C c.(1366-1368)Ttg>Ctg p.L456L TMEM260_ENST00000538838.1_Intron|TMEM260_ENST00000536419.1_Intron NM_017799.3 NP_060269.3 transmembrane protein 260 CTGTGAGGGGTTGAGGCCTGA 0.368000 10 33 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 5 33 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36563947 36563947 + Frame_Shift_Del DEL C C - TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr1:36563947delC ENST00000397799.1 - 4 1559 c.1335delG c.(1333-1335)ggfs p.G445fs COL8A2_ENST00000481785.1_Frame_Shift_Del_p.G380fs|COL8A2_ENST00000303143.4_Frame_Shift_Del_p.G445fs P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 445 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACCTTTCTGCCCCAGGGCTC 0.692 2 4 --- --- --- --- USP2-AS1 0 broad.mit.edu 37 11 119274142 119274142 + RNA DEL T T - rs66493459 TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr11:119274142delT ENST00000498979.2 + 0 273 USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA NR_034160.1 AGTGTTTAAGttttttttttt 0.343 3 5 --- --- --- --- HAGHL 84264 broad.mit.edu 37 16 778954 778954 + Frame_Shift_Del DEL T T - TCGA-DJ-A4UR-01A-11D-A257-08 TCGA-DJ-A4UR-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96322657-d1a7-41c1-bdf0-24497e508a24 87d1c17c-cf0f-439f-bf79-1e3a6e092738 g.chr16:778954delT ENST00000341413.4 + 7 940 c.659delT c.(658-660)ggfs p.V220fs HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000561546.1_Intron Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like 220 hydrolase activity|metal ion binding lung(3) 3 Hepatocellular(780;0.00335) GGCTTCGGGGTGGGGGGGGCT 0.672 2 4 --- --- --- ---