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 TAF1 6872 broad.mit.edu 37 X 70621406 70621406 + Missense_Mutation SNP G G T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chrX:70621406G>T ENST00000449580.1 + 25 3863 c.3812G>T c.(3811-3813)gGa>gTa p.G1271V TAF1_ENST00000373790.4_Missense_Mutation_p.G1271V|TAF1_ENST00000276072.3_Missense_Mutation_p.G1292V|TAF1_ENST00000423759.1_Missense_Mutation_p.G1292V P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1271 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GGTGCCATTGGACACATGAGG 0.458000 14 14 1.3612e-06 1.45195e-06 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276406 186276406 + Missense_Mutation SNP C C A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr1:186276406C>A ENST00000445192.2 + 7 1600 c.1555C>A c.(1555-1557)Ccc>Acc p.P519T PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P426T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 519 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACTCCCAAGGAGCC 0.642000 5 121 0.248553 0.248553 1 1 0 NTF3 4908 broad.mit.edu 37 12 5603797 5603797 + Silent SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr12:5603797C>T ENST00000423158.3 + 2 668 c.456C>T c.(454-456)taC>taT p.Y152Y NTF3_ENST00000331010.6_Silent_p.Y139Y|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 139 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 GGAAACGGTACGCGGAGCATA 0.602000 35 106 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011553 46011553 + Silent SNP A A G TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr21:46011553A>G ENST00000400368.1 - 1 833 c.813T>C c.(811-813)tgT>tgC p.C271C TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 271 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGACGGGCACACAGCAGGCGT 0.647000 6 269 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61621618 61621618 + Missense_Mutation SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr17:61621618C>T ENST00000583023.1 + 12 2361 c.2350C>T c.(2350-2352)Cct>Tct p.P784S KCNH6_ENST00000581784.1_Missense_Mutation_p.P695S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P748S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P695S NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 784 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) AGATGCAGCCCCTCCCCTGAG 0.612000 16 33 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168463 25168463 + RNA SNP T T C rs61946940 TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr13:25168463T>C ENST00000453498.1 + 0 1135 TGACAGTCCATCTCTGTACGA 0.363000 4 25 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48190668 48190668 + Missense_Mutation SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr18:48190668C>T ENST00000400384.2 + 2 1376 c.340C>T c.(340-342)Cgc>Tgc p.R114C MAPK4_ENST00000587823.1_Intron|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 114 Protein kinase. cell cycle ATP binding|MAP kinase activity p.R114C(1) lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CGACCTGGCACGCCTGCTGGA 0.612000 10 69 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110168798 110168798 + Missense_Mutation SNP C C G TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr1:110168798C>G ENST00000256578.3 + 4 892 c.532C>G c.(532-534)Ctg>Gtg p.L178V AMPD2_ENST00000528454.1_Missense_Mutation_p.L60V|AMPD2_ENST00000528667.1_Missense_Mutation_p.L178V|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.L59V|AMPD2_ENST00000358729.4_Missense_Mutation_p.L103V|AMPD2_ENST00000342115.4_Missense_Mutation_p.L97V NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 178 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GCCAGACATCCTGCTTCGGGC 0.632000 10 38 0 0 1 0 0 RNF208 727800 broad.mit.edu 37 9 140114928 140114928 + Missense_Mutation SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr9:140114928G>A ENST00000392827.1 - 2 905 c.737C>T c.(736-738)gCg>gTg p.A246V RNF208_ENST00000391553.1_Missense_Mutation_p.A246V Q9H0X6 RN208_HUMAN ring finger protein 208 246 zinc ion binding lung(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCAGGTGCACGCGGCCCCACA 0.706000 3 13 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87183111 87183111 + Missense_Mutation SNP A A G TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr7:87183111A>G ENST00000265724.3 - 10 1382 c.965T>C c.(964-966)cTc>cCc p.L322P ABCB1_ENST00000543898.1_Missense_Mutation_p.L258P NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 322 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCCCCTGAGAGGACCAAGGT 0.393000 19 42 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958147 47958147 + Silent SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr3:47958147C>T ENST00000426837.2 - 8 1308 c.1221G>A c.(1219-1221)ttG>ttA p.L407L MAP4_ENST00000360240.6_Silent_p.L390L|MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 390 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.L390L(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGAGCCAAGTCCATTT 0.448000 4 94 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1056395 1056395 + Missense_Mutation SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr19:1056395C>T ENST00000263094.6 + 33 4714 c.4483C>T c.(4483-4485)Ctc>Ttc p.L1495F ABCA7_ENST00000435683.2_Missense_Mutation_p.L1357F|ABCA7_ENST00000433129.1_Missense_Mutation_p.L1495F NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1495 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAACGCAATCCTCCGTGCTCA 0.612000 23 66 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72473594 72473594 + Silent SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr17:72473594C>T ENST00000360141.3 + 4 841 c.553C>T c.(553-555)Ctg>Ttg p.L185L CD300A_ENST00000577511.1_Silent_p.L55L|CD300A_ENST00000310828.5_Silent_p.L72L|CD300A_ENST00000392625.3_Silent_p.L72L|CD300A_ENST00000361933.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 185 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GCTCCTCTCCCTGCTGGCATT 0.512000 17 67 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176519745 176519745 + Silent SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr5:176519745C>T ENST00000292408.4 + 8 1262 c.1017C>T c.(1015-1017)atC>atT p.I339I FGFR4_ENST00000292410.3_Silent_p.I339I|FGFR4_ENST00000502906.1_Silent_p.I339I|FGFR4_ENST00000393648.2_Silent_p.I339I|FGFR4_ENST00000393637.1_Silent_p.I339I NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 339 Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GCAATTCCATCGGCCTCTCCT 0.632000 TSP Lung(9;0.080) 5 124 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90119413 90119413 + Splice_Site SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr5:90119413G>A ENST00000405460.2 + 76 16464 c.16368_splice c.e76+1 p.K5456_splice GPR98_ENST00000425867.2_Splice_Site_p.K1117_splice NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5456 Calx-beta 35. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AACCAGAAAAGGTAAGAAATG 0.363000 10 13 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30131720 30131720 + Missense_Mutation SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr6:30131720G>A ENST00000376694.4 + 1 728 c.259G>A c.(259-261)Ggc>Agc p.G87S TRIM15_ENST00000376688.1_Missense_Mutation_p.G87S NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 87 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 CGAGGAGCACGGCGAGAAGAT 0.632000 3 46 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276429 186276429 + Silent SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr1:186276429C>T ENST00000445192.2 + 7 1623 c.1578C>T c.(1576-1578)acC>acT p.T526T PRG4_ENST00000367483.4_Silent_p.T485T|PRG4_ENST00000367486.3_Silent_p.T483T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T433T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 526 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCACCAAGTCTG 0.637000 5 116 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58489358 58489358 + Missense_Mutation SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr5:58489358C>T ENST00000340635.6 - 3 827 c.652G>A c.(652-654)Gga>Aga p.G218R PDE4D_ENST00000502575.1_Missense_Mutation_p.G154R|PDE4D_ENST00000546160.1_Missense_Mutation_p.G157R|PDE4D_ENST00000503258.1_Missense_Mutation_p.G88R|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000360047.5_Missense_Mutation_p.G82R|PDE4D_ENST00000507116.1_Missense_Mutation_p.G154R|PDE4D_ENST00000405755.2_Missense_Mutation_p.G96R|PDE4D_ENST00000502484.2_Missense_Mutation_p.G157R NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 218 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) AAGTCATCTCCGTGTCTGAAA 0.398000 6 25 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20271009 20271009 + Nonsense_Mutation SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr20:20271009G>A ENST00000377309.2 + 23 2976 c.930G>A c.(928-930)tgG>tgA p.W310* C20orf26_ENST00000245957.5_Missense_Mutation_p.E1064K Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 0 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AACTCCCTTGGAGGTACAAAT 0.348000 14 40 0 0 1 0 0 PCDHB1 0 broad.mit.edu 37 5 140432731 140432731 + Missense_Mutation SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr5:140432731G>A ENST00000306549.3 + 1 1753 c.1676G>A c.(1675-1677)cGt>cAt p.R559H NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 559 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R559H(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGACAATCGTCCAATGATC 0.502000 22 44 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160061402 160061402 + Missense_Mutation SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr5:160061402C>T ENST00000327245.5 - 12 2186 c.1340G>A c.(1339-1341)cGt>cAt p.R447H CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 447 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GATGGTGCAACGTCGGAACAC 0.507000 26 45 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81944259 81944259 + Missense_Mutation SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr16:81944259G>A ENST00000359376.3 + 18 2082 c.1868G>A c.(1867-1869)cGc>cAc p.R623H NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 623 SH2 1. R -> P (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815). intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 ACGCACCTGCGCTGCGCCGAG 0.632000 7 420 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83379779 83379779 + Missense_Mutation SNP A A G TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr12:83379779A>G ENST00000549919.1 + 9 3811 c.2006A>G c.(2005-2007)gAc>gGc p.D669G TMTC2_ENST00000321196.3_Missense_Mutation_p.D675G Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 675 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 TCCAAGACTGACCACATCCCT 0.458000 31 65 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659212 50659212 + Silent SNP A A G rs141527317 TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr22:50659212A>G ENST00000439308.2 - 16 4068 c.3576T>C c.(3574-3576)tcT>tcC p.S1192S TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1192 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCAGACACGTGTC 0.617000 5 91 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101841262 101841262 + Missense_Mutation SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr10:101841262C>T ENST00000370418.3 - 1 372 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 41 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CCGGGGCATTCGTTTTGCACC 0.597000 4 87 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287900 33287900 + Silent SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr6:33287900C>T ENST00000374542.5 - 5 1557 c.1353G>A c.(1351-1353)gaG>gaA p.E451E DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.E376E NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 451 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 cttcttcttcctcctcctcct 0.557000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 3 30 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17895689 17895689 + Silent SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr19:17895689G>A ENST00000594202.1 + 26 2661 c.2382G>A c.(2380-2382)gtG>gtA p.V794V FCHO1_ENST00000600676.1_Silent_p.V794V|FCHO1_ENST00000389133.4_Silent_p.V794V|FCHO1_ENST00000539407.1_Silent_p.V794V|FCHO1_ENST00000596536.1_Silent_p.V794V|FCHO1_ENST00000596951.1_Silent_p.V794V|FCHO1_ENST00000595033.1_Silent_p.V744V|FCHO1_ENST00000252771.7_Silent_p.V794V|FCHO1_ENST00000597512.1_Silent_p.V801V NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 794 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TGCTGCCTGTGGGGGAGCCTG 0.652000 OREG0025350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 118 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94436513 94436513 + Missense_Mutation SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr4:94436513G>A ENST00000282020.4 + 13 2402 c.2144G>A c.(2143-2145)aGc>aAc p.S715N GRID2_ENST00000510992.1_Missense_Mutation_p.S620N NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 715 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATCAACCGAAGCAATGGATCG 0.473000 20 74 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 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 96 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157665876 157665876 + Silent SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr1:157665876G>A ENST00000368184.3 - 7 1377 c.1086C>T c.(1084-1086)aaC>aaT p.N362N FCRL3_ENST00000368186.5_Silent_p.N362N|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 362 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GGCTGTGAACGTTATCAGCTG 0.532000 7 75 0 0 1 0 0 ACOT8 10005 broad.mit.edu 37 20 44472287 44472287 + Silent SNP C C G TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr20:44472287C>G ENST00000217455.4 - 5 810 c.720G>C c.(718-720)ctG>ctC p.L240L NM_005469.3 NP_005460.2 O14734 ACOT8_HUMAN acyl-CoA thioesterase 8 240 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding kidney(2)|large_intestine(3)|lung(4)|skin(1) 10 Myeloproliferative disorder(115;0.0122) GGTGAGGCAGCAGTGCAGTGC 0.597000 15 46 0 0 1 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188202 70188202 + Missense_Mutation SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr2:70188202C>T ENST00000320256.4 - 1 1195 c.619G>A c.(619-621)Gtg>Atg p.V207M NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 207 Peptidase A2. protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 AGGAACCTCACGGGCACTTTG 0.597000 4 72 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81571959 81571959 + Silent SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr15:81571959C>T ENST00000394660.2 + 8 1285 c.925C>T c.(925-927)Ctg>Ttg p.L309L IL16_ENST00000302987.4_Silent_p.L309L NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 309 Interaction with GRIN2A. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GCCTCCTTCCCTGTGCAGCCA 0.612000 17 23 0 0 1 0 0 LCE2B 26239 broad.mit.edu 37 1 152659476 152659476 + Missense_Mutation SNP G G T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr1:152659476G>T ENST00000368780.3 + 2 211 c.157G>T c.(157-159)Ggg>Tgg p.G53W LCE2B_ENST00000417924.2_Missense_Mutation_p.G53W NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 53 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCATCTCTGGGGGCTGCTG 0.642000 11 248 0.000978159 0.00102069 1 1 0 MUC7 4589 broad.mit.edu 37 4 71347047 71347047 + Missense_Mutation SNP T T C TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr4:71347047T>C ENST00000413702.1 + 4 874 c.586T>C c.(586-588)Tct>Cct p.S196P MUC7_ENST00000304887.5_Missense_Mutation_p.S196P|MUC7_ENST00000456088.1_Missense_Mutation_p.S196P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 196 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.587000 6 295 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48506641 48506641 + Splice_Site SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr7:48506641C>T ENST00000435803.1 + 44 12928 c.12905_splice c.e44+1 p.Q4302_splice ABCA13_ENST00000544596.1_Intron NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4302 Q -> R (in dbSNP:rs4917153). transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAACCCACGCCAGTAAGTGTC 0.473000 28 104 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50812434 50812434 + Splice_Site SNP G G T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr19:50812434G>T ENST00000440075.2 + 42 6007 c.5960_splice c.e42+1 p.R1987_splice MYH14_ENST00000601313.1_Splice_Site_p.R1987_splice|MYH14_ENST00000598205.1_Splice_Site_p.R1954_splice|MYH14_ENST00000596571.1_Splice_Site_p.R1946_splice|MYH14_ENST00000425460.1_Splice_Site_p.R1954_splice|MYH14_ENST00000376970.2_Splice_Site_p.R1979_splice|MYH14_ENST00000262269.8_Splice_Site_p.R1987_splice Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1946 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) AACCGGCTTCGGTATGGTCAT 0.632000 7 133 7.48243e-07 8.16265e-07 1 1 0 MAPK3 5595 broad.mit.edu 37 16 30134372 30134372 + Silent SNP G G A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr16:30134372G>A ENST00000403394.1 - 1 258 c.159C>T c.(157-159)taC>taT p.Y53Y MAPK3_ENST00000395202.1_Silent_p.Y53Y|MAPK3_ENST00000395200.1_Silent_p.Y24Y|MAPK3_ENST00000322266.5_Silent_p.Y53Y|MAPK3_ENST00000263025.4_Silent_p.Y53Y|MAPK3_ENST00000395199.3_Silent_p.Y53Y NM_001040056.1 NP_001035145.1 P27361 MK03_HUMAN mitogen-activated protein kinase 3 53 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) TGACCATGCCGTACGCGCCCT 0.726000 3 50 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 4 141 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39041184 39041184 + Missense_Mutation SNP A A T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr17:39041184A>T ENST00000167588.3 - 1 295 c.254T>A c.(253-255)cTa>cAa p.L85Q NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 85 Coil 1A.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) CACCTTTTCTAGGTAGCTCGC 0.542000 6 53 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7050146 7050146 + Silent SNP C C T TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr12:7050146C>T ENST00000356654.4 + 8 3555 c.3318C>T c.(3316-3318)caC>caT p.H1106H ATN1_ENST00000396684.2_Silent_p.H1106H NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 1106 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 TGCTTCCTCACCCTCTGCACG 0.567000 16 51 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958144 47958144 + Silent SNP A A G TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr3:47958144A>G ENST00000426837.2 - 8 1311 c.1224T>C c.(1222-1224)gcT>gcC p.A408A MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 391 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.A391A(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTGGAAGGAGCCAAGTCCA 0.443000 4 92 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162637 33162637 + RNA SNP C C T rs1842247 TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr5:33162637C>T ENST00000510327.1 - 0 346 TGTCCCACTACGTGCTGCCCC 0.468000 12 12 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112915523 112915523 + Missense_Mutation SNP A A G rs28933386 TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr12:112915523A>G ENST00000351677.2 + 8 1120 c.922A>G c.(922-924)Aat>Gat p.N308D PTPN11_ENST00000392597.1_Missense_Mutation_p.N308D NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 308 Tyrosine-protein phosphatase. N -> D (in NS1; common mutation).|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.N308D(1) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 CATCAATGCAAATATCATCAT 0.378000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 12 37 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676700 100676700 + Nonsense_Mutation SNP C C A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr7:100676700C>A ENST00000306151.4 + 3 2067 c.2003C>A c.(2002-2004)tCa>tAa p.S668* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 668 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCACTTCATCTTCTACA 0.502000 6 323 0.0293803 0.0300055 1 1 0 WDR78 79819 broad.mit.edu 37 1 67371036 67371037 + Frame_Shift_Ins INS - - A TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr1:67371036_67371037insA ENST00000371026.3 - 2 247_248 c.192_193insT c.(190-195)aaagtcfs p.KV64fs WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Frame_Shift_Ins_p.KV64fs|WDR78_ENST00000488333.1_5'UTR|WDR78_ENST00000371023.3_Frame_Shift_Ins_p.KV64fs NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 64 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CTAATAGACTTCTTTGGTTGTG 0.322 16 16 --- --- --- --- PHLDB2 90102 broad.mit.edu 37 3 111604041 111604042 + Frame_Shift_Ins INS - - CAGA TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr3:111604041_111604042insCAGA ENST00000431670.2 + 2 1528_1529 c.1117_1118insCAGA c.(1117-1119)agafs p.R373fs PHLDB2_ENST00000412622.1_Frame_Shift_Ins_p.R373fs|PHLDB2_ENST00000481953.1_Frame_Shift_Ins_p.R373fs|PHLDB2_ENST00000393925.3_Frame_Shift_Ins_p.R373fs|PHLDB2_ENST00000477695.1_Frame_Shift_Ins_p.R373fs|PHLDB2_ENST00000393923.3_Frame_Shift_Ins_p.R400fs|PHLDB2_ENST00000478922.1_Frame_Shift_Ins_p.R373fs NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 373 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGCTGGAGAGTCAGACAGAGTT 0.515 23 80 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124817682 124817683 + Frame_Shift_Ins INS - - C TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr12:124817682_124817683insC ENST00000356219.3 - 43 6924_6925 c.6769_6770insG c.(6769-6771)gccfs p.A2257fs NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.A2240fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.A2240fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.A1811fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.A2250fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.A2241fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2261 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTACCTGGGCTCCGTCTGTTCC 0.644 32 86 --- --- --- --- PIEZO1 9780 broad.mit.edu 37 16 88800373 88800375 + In_Frame_Del DEL TCC TCC - rs59446030 TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr16:88800373_88800375delTCC ENST00000301015.9 - 17 2514_2516 c.2268_2270delGGA c.(2266-2271)gac>ga p.ED756del RP5-1142A6.2_ENST00000440406.2_RNA NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 756 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 GTCCCTGGAGtcctcctcctcct 0.685 2 4 --- --- --- --- ITSN1 6453 broad.mit.edu 37 21 35094910 35094910 + Frame_Shift_Del DEL T T - TCGA-HT-7854-01A-11D-2253-08 TCGA-HT-7854-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041fdd6c-8bbc-4966-8ca7-8a9099b9031f c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829 g.chr21:35094910delT ENST00000381318.3 + 4 427 c.139delT c.(139-141)ttfs p.F49fs ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F49fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.F49fs NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 49 EH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AGCTAGAAACTTTTTTTTTCA 0.279 3 3 --- --- --- ---