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 AC226119.5 0 broad.mit.edu 37 4 3954855 3954855 + RNA SNP G G T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr4:3954855G>T ENST00000281228.8 - 0 143 FAM86EP_ENST00000313946.8_RNA AAAATATCCCGCCGCAGCTCA 0.493000 4 125 1.23904e-05 1.33896e-05 1 1 0 GOLGA8EP 390535 broad.mit.edu 37 15 23445474 23445474 + RNA SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr15:23445474G>A ENST00000526079.1 + 0 2294 NR_027407.1|NR_033350.1 CATGACCATCGTCAAAGACCT 0.433000 4 132 0 0 1 0 0 C14orf182 283551 broad.mit.edu 37 14 50472372 50472372 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr14:50472372C>T ENST00000399206.1 - 1 1866 c.146G>A c.(145-147)cGa>cAa p.R49Q C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 49 large_intestine(2)|urinary_tract(1) 3 ATGTCTGTGTCGTAGAACTGT 0.527000 81 104 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165961778 165961778 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr4:165961778C>T ENST00000512596.1 + 3 770 c.554C>T c.(553-555)tCt>tTt p.S185F TRIM60_ENST00000341062.5_Missense_Mutation_p.S185F|TRIM60_ENST00000508504.1_Missense_Mutation_p.S185F NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 185 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) GAAATAAATTCTGAGTTTGAG 0.318000 28 39 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67682147 67682147 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr16:67682147G>A ENST00000334583.6 + 14 1592 c.1264G>A c.(1264-1266)Gca>Aca p.A422T RLTPR_ENST00000545661.1_Missense_Mutation_p.A386T NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 422 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GCAGCTCTTCGCAGCGGTATC 0.716000 9 0 0 0 1 0 0 GPR84 53831 broad.mit.edu 37 12 54756501 54756501 + Nonsense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr12:54756501G>A ENST00000551809.1 - 1 1770 c.1135C>T c.(1135-1137)Caa>Taa p.Q379* RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Nonsense_Mutation_p.Q379* Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 379 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CCATATGCTTGGCGGAATTGG 0.547000 7 341 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291581 141291581 + Missense_Mutation SNP C C A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chrX:141291581C>A ENST00000247452.3 - 3 540 c.193G>T c.(193-195)Ggt>Tgt p.G65C NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 65 cytoplasm|nucleus p.G65R(1) NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGGACCACCAAGAATC 0.532000 HNSCC(46;0.14) 41 19 5.43694e-19 6.17415e-19 1 1 0 GRIK2 2898 broad.mit.edu 37 6 102134192 102134192 + Silent SNP G G A rs145542805 by1000genomes TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr6:102134192G>A ENST00000369138.1 + 6 1405 c.915G>A c.(913-915)ccG>ccA p.P305P GRIK2_ENST00000369134.4_Silent_p.P256P|GRIK2_ENST00000358361.3_Silent_p.P305P|GRIK2_ENST00000318991.6_Silent_p.P305P|GRIK2_ENST00000413795.1_Silent_p.P305P|GRIK2_ENST00000421544.1_Silent_p.P305P|GRIK2_ENST00000369137.3_Silent_p.P305P NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 305 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGGCACCTCCGAAACCCGATT 0.393000 25 73 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850179 58850179 + Silent SNP G G A rs139283341 byFrequency TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr19:58850179G>A ENST00000329665.4 + 3 1110 c.963G>A c.(961-963)gcG>gcA p.A321A NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 321 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A321A(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) ACACAGGGGCGAAGCCCCATG 0.567000 79 149 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284458 33284458 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr6:33284458G>A ENST00000431845.2 - 2 387 c.236C>T c.(235-237)tCc>tTc p.S79F ZBTB22_ENST00000418724.1_Missense_Mutation_p.S79F NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 79 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GAAGTAAGGGGAGGAGGCAGC 0.602000 46 81 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38505847 38505847 + Splice_Site SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr7:38505847G>A ENST00000356264.2 - 8 807 c.590_splice c.e8-1 p.R198_splice AMPH_ENST00000325590.5_Splice_Site_p.R198_splice|AMPH_ENST00000428293.2_Splice_Site_p.R198_splice NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 198 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 AATCCAACTCGTCTGCCATGT 0.368000 17 30 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76262786 76262786 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:76262786C>T ENST00000263187.3 + 1 220 c.116C>T c.(115-117)cCa>cTa p.P39L NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 39 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 CAGGAGACTCCACAGAGCCGC 0.652000 Mismatch excision repair (MMR) 18 26 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511822 195511822 + Missense_Mutation SNP G G T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr3:195511822G>T ENST00000463781.3 - 2 7088 c.6629C>A c.(6628-6630)cCt>cAt p.P2210H MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2210H NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 999 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.P2210H(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCTGGTGACAGGAAGAGGGGT 0.597000 3 12 0.115264 0.120667 1 1 0 ENPP6 133121 broad.mit.edu 37 4 185012391 185012391 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr4:185012391G>A ENST00000296741.2 - 8 1403 c.1262C>T c.(1261-1263)gCc>gTc p.A421V NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 421 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GACAGGCGGGGCAGTGCTGGC 0.557000 23 66 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115891640 115891640 + Silent SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr4:115891640G>A ENST00000264363.2 - 4 1845 c.1167C>T c.(1165-1167)ttC>ttT p.F389F NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 389 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ACTCGTTGTGGAAGAGGTGGG 0.443000 30 45 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165551421 165551421 + Silent SNP G G T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr2:165551421G>T ENST00000375458.2 - 11 2702 c.2481C>A c.(2479-2481)ccC>ccA p.P827P COBLL1_ENST00000409184.3_Silent_p.P865P|COBLL1_ENST00000392717.2_Silent_p.P903P|COBLL1_ENST00000342193.4_Silent_p.P865P|COBLL1_ENST00000194871.6_Silent_p.P932P NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 903 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TTGTCATTTTGGGAGCAGGTT 0.433000 53 71 4.17463e-26 4.82242e-26 1 1 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 4 131 0.184627 0.184627 1 1 0 NIN 51199 broad.mit.edu 37 14 51239789 51239789 + Missense_Mutation SNP G G C TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr14:51239789G>C ENST00000245441.5 - 8 881 c.691C>G c.(691-693)Ctt>Gtt p.L231V NIN_ENST00000389868.3_Missense_Mutation_p.L231V|NIN_ENST00000530997.2_Missense_Mutation_p.L231V|NIN_ENST00000453196.1_Missense_Mutation_p.L231V|NIN_ENST00000382041.3_Missense_Mutation_p.L231V|NIN_ENST00000382043.4_Missense_Mutation_p.L231V|NIN_ENST00000324330.9_Missense_Mutation_p.L231V NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 231 EF-hand 4. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TCAGGATCAAGATTATGGAAT 0.358000 T PDGFRB MPD 42 49 0 0 1 0 0 TAOK3 51347 broad.mit.edu 37 12 118636903 118636903 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr12:118636903C>T ENST00000392533.3 - 13 1637 c.1147G>A c.(1147-1149)Gat>Aat p.D383N TAOK3_ENST00000419821.2_Missense_Mutation_p.D383N NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 383 Ser-rich. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTTTCGTCATCGTGCATCATG 0.502000 79 97 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936212 4936212 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr11:4936212G>A ENST00000322013.3 - 1 710 c.682C>T c.(682-684)Cgc>Tgc p.R228C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCACGGTGCGCAGGATCAGA 0.522000 26 29 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537631 24537631 + Silent SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr5:24537631G>A ENST00000264463.4 - 3 891 c.384C>T c.(382-384)cgC>cgT p.R128R NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 128 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R128R(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TAGCTTGTGCGCGTAGAGTAT 0.413000 HNSCC(23;0.051) 125 77 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108290547 108290547 + Missense_Mutation SNP C C G TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr5:108290547C>G ENST00000281092.4 + 12 1831 c.1447C>G c.(1447-1449)Cga>Gga p.R483G FER_ENST00000438717.2_Missense_Mutation_p.R308G|FER_ENST00000536402.1_3'UTR NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 483 SH2. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) CTTTTTGGTGCGAGAGAGTCA 0.408000 43 123 0 0 1 0 0 SIKE1 80143 broad.mit.edu 37 1 115323142 115323142 + Silent SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:115323142C>T ENST00000369528.5 - 1 164 c.87G>A c.(85-87)ctG>ctA p.L29L SIKE1_ENST00000060969.5_Silent_p.L29L|SIKE1_ENST00000506320.1_5'UTR NM_001102396.1|NM_025073.2 NP_001095866.1|NP_079349.2 Q9BRV8 SIKE1_HUMAN suppressor of IKBKE 1 29 cytosol protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 ACTGATCCACCAGCGACTCGG 0.662000 31 23 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154763341 154763341 + Missense_Mutation SNP A A T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr6:154763341A>T ENST00000607772.1 - 3 844 c.300T>A c.(298-300)agT>agA p.S100R CNKSR3_ENST00000479339.1_Missense_Mutation_p.S20R NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 100 CRIC. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) TCCGTCGGCTACTTATGTAAT 0.498000 63 108 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149213163 149213163 + Silent SNP G G T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr5:149213163G>T ENST00000309241.5 + 5 1559 c.1527G>T c.(1525-1527)ctG>ctT p.L509L PPARGC1B_ENST00000360453.4_Silent_p.L470L|PPARGC1B_ENST00000394320.3_Silent_p.L509L|PPARGC1B_ENST00000403750.1_Silent_p.L445L NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 509 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGCCCTCACTGTGCCTGGCTC 0.667000 5 14 0.184627 0.184627 1 1 0 DNTT 1791 broad.mit.edu 37 10 98092349 98092349 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr10:98092349C>T ENST00000419175.1 + 9 1525 c.1355C>T c.(1354-1356)tCc>tTc p.S452F DNTT_ENST00000371174.2_Missense_Mutation_p.S452F NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 452 Mediates interaction with DNTTIP2. S -> SP (in Ref. 2; AAA53100). DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TGGACTGGCTCCCGGGTAAGT 0.582000 89 135 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69349299 69349299 + Silent SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr6:69349299G>A ENST00000370598.1 + 3 1553 c.732G>A c.(730-732)agG>agA p.R244R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 244 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATCTTACCAGGGAGGCCAAGC 0.527000 10 30 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18039775 18039775 + Silent SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr17:18039775C>T ENST00000205890.5 + 14 4979 c.4641C>T c.(4639-4641)agC>agT p.S1547S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1547 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTGTGGAGAGCGCTGTGGATG 0.642000 37 48 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121435642 121435642 + Silent SNP A A T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr3:121435642A>T ENST00000393667.3 - 9 1340 c.1230T>A c.(1228-1230)ctT>ctA p.L410L GOLGB1_ENST00000340645.5_Silent_p.L405L NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 405 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TATCTTGGAGAAGCTTTGAAT 0.433000 65 106 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63554045 63554045 + Missense_Mutation SNP C C G TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr17:63554045C>G ENST00000307078.5 - 2 1007 c.694G>C c.(694-696)Gag>Cag p.E232Q AXIN2_ENST00000375702.5_Missense_Mutation_p.E232Q|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 232 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GTCCACTCCTCTTCTTCATTC 0.537000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 44 73 0 0 1 0 0 FUT7 2529 broad.mit.edu 37 9 139925703 139925703 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr9:139925703G>A ENST00000314412.6 - 2 1506 c.488C>T c.(487-489)tCg>tTg p.S163L C9orf139_ENST00000314330.2_Intron NM_004479.3 NP_004470.1 Q11130 FUT7_HUMAN fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 163 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CAGCGGTGGCGAGGGCCCCCA 0.682000 16 17 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27352652 27352652 + Silent SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr2:27352652C>T ENST00000316470.4 + 6 762 c.648C>T c.(646-648)gcC>gcT p.A216A NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 216 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGCACAGGCCAGGCAGGCTG 0.557000 29 45 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5265138 5265138 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr19:5265138C>T ENST00000372412.4 - 5 682 c.449G>A c.(448-450)cGg>cAg p.R150Q PTPRS_ENST00000587303.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.R150Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.R150Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.R150Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.R150Q Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 150 Ig-like C2-type 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGTGGCTGTCCGTGTCCGCTC 0.602000 28 37 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 55 0 0 1 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12979758 12979758 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:12979758G>A ENST00000361079.2 + 4 1033 c.950G>A c.(949-951)aGc>aAc p.S317N PRAME family member 7 endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGTGCCCGAGCATCCGTCAA 0.577000 35 227 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432589 179432589 + Missense_Mutation SNP G G C TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr2:179432589G>C ENST00000589042.1 - 326 78494 c.78270C>G c.(78268-78270)gaC>gaG p.D26090E TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17150E|TTN_ENST00000342175.6_Missense_Mutation_p.D17217E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23522E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24449E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17025E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24449 Ig-like 126. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCTGGTGGGTCACAGGGAT 0.403000 128 170 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112989706 112989706 + Missense_Mutation SNP C C G rs140032333 TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr3:112989706C>G ENST00000495514.1 + 6 1286 c.582C>G c.(580-582)gaC>gaG p.D194E BOC_ENST00000273395.4_Missense_Mutation_p.D194E|BOC_ENST00000355385.3_Missense_Mutation_p.D194E Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 194 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GCCAGGAGGACGAGGGCATGT 0.607000 51 79 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637363 248637363 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:248637363G>A ENST00000359594.2 + 1 737 c.712G>A c.(712-714)Ggc>Agc p.G238S NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) TTCTGCCGCCGGCCACAGGAA 0.562000 93 135 0 0 1 0 0 ACTG2 72 broad.mit.edu 37 2 74128448 74128448 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr2:74128448G>A ENST00000409624.1 + 3 653 c.10G>A c.(10-12)Gag>Aag p.E4K ACTG2_ENST00000409918.1_Missense_Mutation_p.E4K|ACTG2_ENST00000409731.3_Missense_Mutation_p.E4K|ACTG2_ENST00000345517.3_Missense_Mutation_p.E4K P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 4 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 CATGTGTGAAGAGGAGACCAC 0.582000 17 38 0 0 1 0 0 TM6SF1 53346 broad.mit.edu 37 15 83793513 83793513 + Silent SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr15:83793513C>T ENST00000322019.9 + 7 967 c.693C>T c.(691-693)tgC>tgT p.C231C TM6SF1_ENST00000379386.4_Silent_p.C234C|TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000565774.1_Silent_p.C231C Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 231 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CTGGATTTTGCCTGTTCAGAG 0.363000 4 94 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159455 23159455 + Missense_Mutation SNP G G C TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr19:23159455G>C ENST00000594710.1 - 4 829 c.684C>G c.(682-684)tgC>tgG p.C228W NM_001267716.1 NP_001254645.1 zinc finger protein 728 CTTCACATTTGCAGGGTTTCT 0.373000 27 59 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49167739 49167739 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr3:49167739G>A ENST00000418109.1 - 10 1314 c.1150C>T c.(1150-1152)Cgc>Tgc p.R384C LAMB2_ENST00000305544.4_Missense_Mutation_p.R384C NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 384 Laminin EGF-like 2. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCACAGTGGCGCCCAGCTGTG 0.607000 25 12 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105456579 105456579 + Silent SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr8:105456579C>T ENST00000351513.2 - 4 822 c.690G>A c.(688-690)acG>acA p.T230T NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 230 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGGCTCTCAGCGTGGCCTCTG 0.562000 44 66 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2718573 2718573 + Silent SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr9:2718573G>A ENST00000382082.3 + 1 1072 c.834G>A c.(832-834)gcG>gcA p.A278A NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 278 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) TGGCGCTGGCGCTCAACACCG 0.677000 24 15 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71478083 71478083 + Missense_Mutation SNP A A T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:71478083A>T ENST00000370924.4 - 2 1212 c.982T>A c.(982-984)Ttc>Atc p.F328I PTGER3_ENST00000356595.4_Missense_Mutation_p.F328I|PTGER3_ENST00000351052.5_Missense_Mutation_p.F328I|PTGER3_ENST00000354608.5_Missense_Mutation_p.F328I|PTGER3_ENST00000306666.5_Missense_Mutation_p.F328I|PTGER3_ENST00000414819.1_Missense_Mutation_p.F328I|PTGER3_ENST00000370932.2_Missense_Mutation_p.F328I|PTGER3_ENST00000460330.1_Missense_Mutation_p.F328I|PTGER3_ENST00000370931.3_Missense_Mutation_p.F328I NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 328 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GCTATTAAGAAGAAGTTGCAT 0.423000 33 43 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40481604 40481604 + Missense_Mutation SNP T T C TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr17:40481604T>C ENST00000264657.5 - 13 1513 c.1201A>G c.(1201-1203)Aac>Gac p.N401D STAT3_ENST00000389272.3_Missense_Mutation_p.N303D|STAT3_ENST00000588969.1_Missense_Mutation_p.N401D|STAT3_ENST00000404395.3_Missense_Mutation_p.N401D|STAT3_ENST00000585517.1_Missense_Mutation_p.N401D NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 401 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) AGGCTGCCGTTGTTGGATTCT 0.498000 Hyperimmunoglobulin E Recurrent Infection Syndrome 95 98 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16725272 16725272 + Silent SNP A A T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:16725272A>T ENST00000335496.1 - 13 1880 c.1398T>A c.(1396-1398)gcT>gcA p.A466A SPATA21_ENST00000466212.1_Intron|SPATA21_ENST00000540400.1_Silent_p.A443A NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 466 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) AGTGGGTTCGAGCTGGCACAG 0.587000 22 39 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128452143 128452143 + Missense_Mutation SNP A A G TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr7:128452143A>G ENST00000297788.4 + 13 2685 c.2318A>G c.(2317-2319)tAc>tGc p.Y773C CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 773 Ser-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GAGAGCTATTACAAGAGTTAC 0.502000 28 48 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929549 121929549 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr9:121929549C>T ENST00000265922.3 - 8 2560 c.2099G>A c.(2098-2100)cGg>cAg p.R700Q DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 700 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AATTCGGTCCCGAATATCCAA 0.572000 9 130 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008757 88008757 + Silent SNP A A C TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chrX:88008757A>C ENST00000276127.4 + 3 601 c.342A>C c.(340-342)tcA>tcC p.S114S CPXCR1_ENST00000373111.1_Silent_p.S114S NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 114 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 GATCCCACTCAGGGAAAGTTG 0.393000 31 4 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77797326 77797326 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr7:77797326C>T ENST00000354212.4 - 15 2756 c.2503G>A c.(2503-2505)Ggc>Agc p.G835S MAGI2_ENST00000419488.1_Missense_Mutation_p.G821S|MAGI2_ENST00000522391.1_Missense_Mutation_p.G835S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 835 PDZ 4. cell junction|synapse|synaptosome phosphatase binding p.G835S(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGGTTTTGCCGGCTACTGGA 0.537000 4 184 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73326535 73326535 + Missense_Mutation SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr10:73326535G>A ENST00000224721.6 + 6 486 c.481G>A c.(481-483)Gcc>Acc p.A161T CDH23_ENST00000398842.3_Missense_Mutation_p.A156T|CDH23_ENST00000461841.3_Missense_Mutation_p.A201T|CDH23_ENST00000398809.4_Missense_Mutation_p.A156T|CDH23_ENST00000299366.7_Missense_Mutation_p.A201T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 156 Cadherin 2. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CATCGTGAATGCCACAGACCC 0.612000 20 18 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235945231 235945231 + Missense_Mutation SNP G G T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:235945231G>T ENST00000389794.3 - 15 5193 c.5019C>A c.(5017-5019)ttC>ttA p.F1673L LYST_ENST00000389793.2_Missense_Mutation_p.F1673L|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 1673 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) actcaccgttgaaGAGAAGCA 0.403000 36 42 6.04917e-29 7.11043e-29 1 1 0 SLC32A1 140679 broad.mit.edu 37 20 37357219 37357219 + Silent SNP G G A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr20:37357219G>A ENST00000217420.1 + 2 1778 c.1515G>A c.(1513-1515)gtG>gtA p.V505V NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 505 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TCTGCAGCGTGTCCGGCTTCG 0.657000 4 43 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21605732 21605732 + Missense_Mutation SNP C C A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:21605732C>A ENST00000415912.2 - 3 309 c.184G>T c.(184-186)Gca>Tca p.A62S ECE1_ENST00000436918.2_Missense_Mutation_p.A78S|ECE1_ENST00000374893.6_Missense_Mutation_p.A78S|ECE1_ENST00000357071.4_Missense_Mutation_p.A66S|ECE1_ENST00000264205.6_Missense_Mutation_p.A75S NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 78 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) ACCAGTCCTGCCGCCAGAAGT 0.637000 45 69 1.35964e-18 1.51826e-18 1 1 0 RP11-154H17.1 0 broad.mit.edu 37 1 5719022 5719022 + RNA DEL C C - TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr1:5719022delC ENST00000413887.1 - 0 155 CCCCAGGACACCCCCCACTCC 0.632 2 4 --- --- --- --- CYLD 1540 broad.mit.edu 37 16 50818322 50818323 + Frame_Shift_Ins INS - - A TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr16:50818322_50818323insA ENST00000540145.1 + 12 2324_2325 c.1909_1910insA c.(1909-1911)agafs p.R637fs CYLD_ENST00000311559.9_Frame_Shift_Ins_p.R637fs|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.R634fs|CYLD_ENST00000427738.3_Frame_Shift_Ins_p.R637fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Frame_Shift_Ins_p.R634fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Frame_Shift_Ins_p.R452fs|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.R634fs|CYLD_ENST00000566206.1_Frame_Shift_Ins_p.R634fs Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 637 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) TAGTGAAACCCAAGAGCTACTG 0.347 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 62 48 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b15da5fe-21e9-4076-9350-3b1cc544e1e1 715962d9-fa9c-48bb-bf0b-e8afb62adfb2 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 7 64 --- --- --- ---