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 PDXDC1 23042 broad.mit.edu 37 16 15110003 15110003 + Missense_Mutation SNP C C A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr16:15110003C>A ENST00000396410.4 + 9 842 c.745C>A c.(745-747)Cac>Aac p.H249N PDXDC1_ENST00000447912.2_Missense_Mutation_p.H158N|PDXDC1_ENST00000450288.2_Missense_Mutation_p.H221N|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H222N|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H234N|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H267N|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H249N|PDXDC1_ENST00000455313.2_Missense_Mutation_p.H226N NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 249 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGCAGTAGGACACACAGACAA 0.448000 3 80 0.150653 0.165937 1 1 0 TRIP12 9320 broad.mit.edu 37 2 230672968 230672968 + Splice_Site SNP C C A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr2:230672968C>A ENST00000283943.5 - 15 2373 c.2195_splice c.e15+1 p.C732_splice TRIP12_ENST00000389044.4_Splice_Site_p.C780_splice|TRIP12_ENST00000389045.3_Splice_Site_p.C435_splice|TRIP12_ENST00000543084.1_Intron NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 732 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CAATCTTTACCAAATCAGAGA 0.488000 4 79 0.00909568 0.0106349 1 1 0 MCF2L 23263 broad.mit.edu 37 13 113699625 113699625 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr13:113699625C>T ENST00000397030.1 + 4 455 c.418C>T c.(418-420)Cgg>Tgg p.R140W MCF2L_ENST00000423482.2_Missense_Mutation_p.R105W|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000397021.1_Missense_Mutation_p.R69W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R111W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R107W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R164W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R111W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R137W|MCF2L_ENST00000375608.3_Missense_Mutation_p.R137W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R105W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R113W O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 137 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GGTGATAGACCGGCGACGGGA 0.667000 5 90 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717275 142717275 + Silent SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:142717275G>A ENST00000381779.4 - 2 1875 c.1650C>T c.(1648-1650)agC>agT p.S550S SLITRK4_ENST00000356928.1_Silent_p.S550S|SLITRK4_ENST00000338017.4_Silent_p.S550S NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 550 LRRCT 2. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CAATCCCGTCGCTCAACTTCT 0.438000 82 152 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96757939 96757939 + Silent SNP A A G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr14:96757939A>G ENST00000359933.4 - 38 6470 c.5577T>C c.(5575-5577)caT>caC p.H1859H ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1859 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCACTTACCCATGTCGATAGG 0.348000 18 157 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834834 125834834 + Missense_Mutation SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr12:125834834G>A ENST00000299308.3 + 2 897 c.889G>A c.(889-891)Gcc>Acc p.A297T NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 297 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGGGGACACGGCCACCTTTTT 0.532000 16 343 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160067534 160067534 + Missense_Mutation SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr5:160067534G>A ENST00000327245.5 - 10 1780 c.934C>T c.(934-936)Cgc>Tgc p.R312C NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 312 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) ATATTCATGCGCCGCTCAATC 0.473000 10 260 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13529264 13529264 + Missense_Mutation SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr12:13529264G>A ENST00000318426.2 - 2 293 c.76C>T c.(76-78)Cct>Tct p.P26S C12orf36_ENST00000532841.1_Missense_Mutation_p.P26S|C12orf36_ENST00000539026.1_Missense_Mutation_p.P26S|C12orf36_ENST00000527705.2_Missense_Mutation_p.P26S|C12orf36_ENST00000531049.1_5'UTR chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) tcttcatcaggaacacacaga 0.463000 4 35 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108220660 108220660 + Missense_Mutation SNP G G T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr3:108220660G>T ENST00000273353.3 - 4 354 c.298C>A c.(298-300)Cca>Aca p.P100T NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 100 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCAAACTCTGGAGGATTCATC 0.443000 4 236 0.184627 0.200452 1 1 0 ENPP2 0 broad.mit.edu 37 8 120608098 120608098 + Missense_Mutation SNP G G T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr8:120608098G>T ENST00000259486.6 - 12 1166 c.1117C>A c.(1117-1119)Cgt>Agt p.R373S ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron NM_006209.4 NP_006200.3 Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 324 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding p.R373S(1) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTGTCCTGACGAGTTTCCGCA 0.458000 4 249 1 1 1 1 0 ZNF41 7592 broad.mit.edu 37 X 47307606 47307606 + Missense_Mutation SNP T T G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:47307606T>G ENST00000377065.4 - 5 2202 c.1563A>C c.(1561-1563)aaA>aaC p.K521N ZNF41_ENST00000397050.2_Missense_Mutation_p.K531N|ZNF41_ENST00000313116.7_Missense_Mutation_p.K521N NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 563 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) ACATATAGGGTTTTTCCCCAG 0.418000 22 193 0 0 1 0 0 SLC38A6 145389 broad.mit.edu 37 14 61451520 61451520 + Splice_Site SNP A A G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr14:61451520A>G ENST00000354886.2 + 3 473 c.310_splice c.e3+1 p.T103_splice SLC38A6_ENST00000456840.2_Splice_Site_p.T80_splice|SLC38A6_ENST00000267488.4_Splice_Site_p.T103_splice|SLC38A6_ENST00000554304.1_3'UTR NM_001172702.1 NP_001166173.1 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 103 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) GTATTCAGACAGGTGAGTAAA 0.378000 13 175 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186315342 186315342 + Missense_Mutation SNP C C G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr1:186315342C>G ENST00000367478.3 - 23 3317 c.3021G>C c.(3019-3021)aaG>aaC p.K1007N NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1007 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTTCCATCAACTTCTTTTCCA 0.353000 T NTRK1 papillary thyroid 11 172 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47305216 47305216 + Missense_Mutation SNP A A G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr20:47305216A>G ENST00000396220.1 - 10 1335 c.1313T>C c.(1312-1314)gTc>gCc p.V438A PREX1_ENST00000371941.3_Missense_Mutation_p.V438A Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 438 DEP 1. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCACTTGGGGACAGTGCTCAG 0.562000 9 88 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179645981 179645981 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr2:179645981C>T ENST00000589042.1 - 21 3614 c.3390G>A c.(3388-3390)gtG>gtA p.V1130V TTN_ENST00000460472.2_Silent_p.V1084V|TTN_ENST00000591111.1_Silent_p.V1130V|TTN_ENST00000359218.5_Silent_p.V1084V|TTN_ENST00000360870.5_Silent_p.V1130V|TTN_ENST00000342992.6_Silent_p.V1130V|TTN_ENST00000342175.6_Silent_p.V1084V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1130 Ig-like 4. 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) TGTTGTAACTCACTTTGTATC 0.353000 23 70 0 0 1 0 0 ZFAND4 93550 broad.mit.edu 37 10 46135292 46135292 + Missense_Mutation SNP T T C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr10:46135292T>C ENST00000374366.3 - 7 932 c.467A>G c.(466-468)aAg>aGg p.K156R ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.K230R Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 230 zinc ion binding GTTCTTCATCTTAGCCTTCAG 0.413000 3 179 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158870 18158870 + Missense_Mutation SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr11:18158870G>A ENST00000396275.2 + 3 482 c.121G>A c.(121-123)Gcg>Acg p.A41T NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 41 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TTCCCTTGTCGCGCTGACAGG 0.592000 69 172 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12906720 12906720 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:12906720C>T ENST00000380659.3 + 3 3232 c.3093C>T c.(3091-3093)aaC>aaT p.N1031N NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 1031 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) GTCTAAAGAACGCCCTGGCCA 0.517000 77 161 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135385198 135385198 + Missense_Mutation SNP C C A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr5:135385198C>A ENST00000442011.2 + 7 1003 c.842C>A c.(841-843)aCc>aAc p.T281N TGFBI_ENST00000305126.8_Missense_Mutation_p.T281N NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 281 FAS1 2. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTGGCCCCGACCAATGAGGCC 0.582000 3 55 0.115264 0.128824 1 1 0 ENG 2022 broad.mit.edu 37 9 130605420 130605420 + Missense_Mutation SNP G G T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr9:130605420G>T ENST00000344849.3 - 2 452 c.172C>A c.(172-174)Ccc>Acc p.P58T ENG_ENST00000373203.4_Missense_Mutation_p.P58T P17813 EGLN_HUMAN endoglin 58 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 ATGGCATTGGGGGCCTGAGCC 0.607000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 4 286 0.014758 0.0167404 1 1 0 REPS2 9185 broad.mit.edu 37 X 17073015 17073015 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:17073015C>T ENST00000357277.3 + 8 1227 c.1056C>T c.(1054-1056)aaC>aaT p.N352N REPS2_ENST00000380064.4_Silent_p.N212N|REPS2_ENST00000303843.7_Silent_p.N351N NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 352 EH 2. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) CTCGGAAGAACGGCTACCCAT 0.512000 20 53 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22211318 22211318 + Silent SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr1:22211318G>A ENST00000374695.3 - 12 1528 c.1449C>T c.(1447-1449)aaC>aaT p.N483N NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 483 Ig-like C2-type 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGCCCCGGGCGTTCATGGCCT 0.627000 11 19 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117198501 117198501 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr6:117198501C>T ENST00000332958.2 + 1 79 c.63C>T c.(61-63)tcC>tcT p.S21S NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 21 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CCCAACTGTCCCCGGGGATCC 0.687000 4 18 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122419983 122419983 + Missense_Mutation SNP C C A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr3:122419983C>A ENST00000474629.2 + 6 2848 c.2582C>A c.(2581-2583)cCg>cAg p.P861Q NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 861 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AGACTCCTACCGGGCAATGCC 0.617000 4 30 1 1 1 1 0 HHAT 55733 broad.mit.edu 37 1 210761338 210761338 + Silent SNP C C T rs139136517 TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr1:210761338C>T ENST00000367010.1 + 10 1367 c.1140C>T c.(1138-1140)ggC>ggT p.G380G HHAT_ENST00000308852.6_Silent_p.G335G|HHAT_ENST00000391905.3_Silent_p.G380G|HHAT_ENST00000545154.1_Silent_p.G381G|HHAT_ENST00000367009.1_Silent_p.G70G|HHAT_ENST00000545781.1_Silent_p.G317G|HHAT_ENST00000541565.1_Silent_p.G243G|HHAT_ENST00000413764.2_Silent_p.G380G|HHAT_ENST00000537898.1_Silent_p.G315G|HHAT_ENST00000261458.3_Silent_p.G380G NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 380 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) ACTGGCATGGCGGCTACGACT 0.587000 6 57 0 0 1 0 0 TMEM245 23731 broad.mit.edu 37 9 111853321 111853321 + Missense_Mutation SNP G G C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr9:111853321G>C ENST00000374586.3 - 5 1062 c.1031C>G c.(1030-1032)aCg>aGg p.T344R NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 344 integral to membrane TCTAAGAAACGTTCCTATTTC 0.502000 9 75 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228182 3228182 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:3228182C>T ENST00000217939.6 - 7 8216 c.8062G>A c.(8062-8064)Gtt>Att p.V2688I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2688 Ig-like C2-type 11. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGAAGAGAAACGCGTCCCAGG 0.627000 48 74 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33134208 33134208 + Silent SNP A A G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr10:33134208A>G ENST00000375028.3 + 13 1201 c.1131A>G c.(1129-1131)agA>agG p.R377R C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Silent_p.R437R Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 373 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 ATACTGGAAGAGGTATAATAA 0.303000 2 23 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62018859 62018859 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr17:62018859C>T ENST00000578147.1 - 24 4859 c.4783G>A c.(4783-4785)Gcc>Acc p.A1595T SCN4A_ENST00000435607.1_Missense_Mutation_p.A1595T P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1595 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGGATGATGGCGATGTACATG 0.517000 3 77 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149347 41149347 + Silent SNP A A G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr5:41149347A>G ENST00000263413.3 - 17 2883 c.2619T>C c.(2617-2619)tgT>tgC p.C873C C6_ENST00000337836.5_Silent_p.C873C NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 873 C5b-binding domain.|Complement control factor I module 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACTTACCTGAACATTTTTCCC 0.398000 182 242 0 0 1 0 0 HOXA4 3201 broad.mit.edu 37 7 27169089 27169089 + Silent SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr7:27169089G>A ENST00000360046.5 - 2 783 c.718C>T c.(718-720)Ctg>Ttg p.L240L HOXA4_ENST00000428284.2_Silent_p.L240L|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 240 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 CGCCGGGTCAGGTATCGATTG 0.572000 40 75 0 0 1 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126278326 126278326 + Missense_Mutation SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr11:126278326G>A ENST00000526727.1 + 7 936 c.562G>A c.(562-564)Gtc>Atc p.V188I ST3GAL4_ENST00000534083.1_Missense_Mutation_p.V188I|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.V184I|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.V183I|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.V187I|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.V177I|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.V194I|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.V184I Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 188 post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) CACACTCCTCGTCCTGGTAGC 0.547000 31 69 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996036 140996036 + Missense_Mutation SNP T T C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:140996036T>C ENST00000285879.4 + 4 3132 c.2846T>C c.(2845-2847)aTc>aCc p.I949T MAGEC1_ENST00000406005.2_Missense_Mutation_p.I16T NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 949 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTGTGATCTTCAGGAAA 0.463000 HNSCC(15;0.026) 11 291 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 42 103 0 0 1 0 0 FEM1C 56929 broad.mit.edu 37 5 114860125 114860125 + Missense_Mutation SNP G G C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr5:114860125G>C ENST00000274457.3 - 3 2295 c.1734C>G c.(1732-1734)atC>atG p.I578M NM_020177.2 NP_064562.1 Q96JP0 FEM1C_HUMAN fem-1 homolog c (C. elegans) 578 cytoplasm breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 18 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) TTATAGGCTGGATTAAATTTT 0.368000 69 103 0 0 1 0 0 PYROXD2 84795 broad.mit.edu 37 10 100143599 100143599 + Nonsense_Mutation SNP G G A rs148254477 TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr10:100143599G>A ENST00000370575.4 - 16 1750 c.1702C>T c.(1702-1704)Cga>Tga p.R568* PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 568 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GCTGCATTTCGCCCAGCAGCT 0.567000 25 228 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106850924 106850924 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr12:106850924C>T ENST00000228347.4 + 21 2524 c.2302C>T c.(2302-2304)Cgt>Tgt p.R768C POLR3B_ENST00000539066.1_Missense_Mutation_p.R710C NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 768 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.R768C(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 AGGCTTTGGGCGTTGCCTTGT 0.408000 39 96 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136117601 136117601 + Missense_Mutation SNP G G C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr3:136117601G>C ENST00000383202.2 - 22 2523 c.2267C>G c.(2266-2268)tCt>tGt p.S756C STAG1_ENST00000536929.1_Missense_Mutation_p.S340C|STAG1_ENST00000434713.2_Missense_Mutation_p.S530C|STAG1_ENST00000236698.5_Missense_Mutation_p.S756C NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 756 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding p.S756C(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TTTGGAAGGAGAGCCATCAGT 0.313000 19 58 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617665 111617665 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr9:111617665C>T ENST00000374667.3 - 1 1574 c.546G>A c.(544-546)tcG>tcA p.S182S NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 182 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGGACAGCAACGACTGGGACG 0.647000 6 64 0 0 1 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713716 32713716 + Missense_Mutation SNP G G C rs35633399 TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr6:32713716G>C ENST00000374940.3 + 3 582 c.480G>C c.(478-480)gaG>gaC p.E160D NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 160 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTGTTTCTGAGACCAGCTTCC 0.493000 97 125 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120181766 120181766 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:120181766C>T ENST00000328078.1 + 1 305 c.228C>T c.(226-228)cgC>cgT p.R76R NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 76 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) TCTTCGATCGCGGCGCCAGCA 0.647000 13 129 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92546168 92546168 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr1:92546168C>T ENST00000370382.3 + 1 307 c.40C>T c.(40-42)Ctt>Ttt p.L14F BTBD8_ENST00000342818.3_Missense_Mutation_p.L14F|BTBD8_ENST00000540648.1_Missense_Mutation_p.L14F Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 14 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) CCCCATGGTACTTCTGGGGTC 0.657000 5 25 0 0 1 0 0 TSIX 0 broad.mit.edu 37 X 73046827 73046827 + RNA SNP T T C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:73046827T>C ENST00000604411.1 + 0 34788 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTCTTGAGGCTTTTGTTGGTT 0.473000 3 134 0 0 1 0 0 CD82 3732 broad.mit.edu 37 11 44621761 44621761 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr11:44621761C>T ENST00000227155.4 + 4 365 c.117C>T c.(115-117)agC>agT p.S39S CD82_ENST00000342935.3_Silent_p.S39S NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 39 integral to plasma membrane protein binding large_intestine(1)|ovary(1) 2 CCGACAAGAGCAGTTTCATCT 0.602000 37 103 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5061202 5061202 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr16:5061202C>T ENST00000251170.7 + 15 2087 c.1907C>T c.(1906-1908)aCg>aTg p.T636M RP11-165E7.1_ENST00000588778.1_RNA NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 636 GOLD. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GATGTCCTGACGGCTCTGCAC 0.662000 20 35 0 0 1 0 0 NCBP2L 392517 broad.mit.edu 37 X 107037591 107037591 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:107037591C>T ENST00000372379.1 + 1 141 c.141C>T c.(139-141)tcC>tcT p.S47S RP5-820B18.3_ENST00000509000.1_RNA nuclear cap binding protein subunit 2-like large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 5 GGAATCTTTCCTTTTATACAA 0.393000 3 80 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825946 102825946 + RNA SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr7:102825946C>T ENST00000312132.4 - 0 3751 GACAGCTTGACACTTGCCATT 0.373000 4 88 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397618 57397618 + Missense_Mutation SNP G G T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr12:57397618G>T ENST00000300101.2 - 2 1169 c.1084C>A c.(1084-1086)Cat>Aat p.H362N NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 TCCCGAGCATGCTGCCGGATC 0.547000 4 172 1 1 1 1 0 OR5L2 26338 broad.mit.edu 37 11 55594988 55594988 + Missense_Mutation SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr11:55594988G>A ENST00000378397.1 + 1 294 c.294G>A c.(292-294)atG>atA p.M98I NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TAGGGTGCATGGTGCAATTCT 0.468000 HNSCC(27;0.073) 32 244 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71115076 71115076 + Missense_Mutation SNP C C A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr4:71115076C>A ENST00000304954.3 + 4 535 c.449C>A c.(448-450)cCa>cAa p.P150Q NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 150 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 GCCACTGAACCAACGGTGGAC 0.463000 3 63 0.014758 0.0167404 1 1 0 TBC1D23 55773 broad.mit.edu 37 3 99979910 99979910 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr3:99979910C>T ENST00000394144.4 + 1 55 c.48C>T c.(46-48)gaC>gaT p.D16D TBC1D23_ENST00000344949.5_Silent_p.D16D|TBC1D23_ENST00000486274.1_3'UTR NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 16 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 CGAGCGGCGACGGCTGGTGAG 0.597000 3 61 0 0 1 0 0 SH3GL3 6457 broad.mit.edu 37 15 84286924 84286924 + Missense_Mutation SNP A A G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr15:84286924A>G ENST00000324537.5 + 12 1445 c.953A>G c.(952-954)gAc>gGc p.D318G SH3GL3_ENST00000434347.1_Missense_Mutation_p.D318G|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000427482.2_Missense_Mutation_p.D310G|SH3GL3_ENST00000564054.1_3'UTR Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 310 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 AAAGAAGGGGACATCATTACA 0.423000 10 66 0 0 1 0 0 IL10RA 3587 broad.mit.edu 37 11 117869741 117869741 + Silent SNP G G T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr11:117869741G>T ENST00000227752.3 + 7 1242 c.1122G>T c.(1120-1122)ctG>ctT p.L374L IL10RA_ENST00000541785.1_Silent_p.L354L|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.L225L NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 374 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GGATCTGCCTGCAGGAGCCCA 0.627000 3 28 1 1 1 1 0 FARP1 10160 broad.mit.edu 37 13 99083304 99083304 + Missense_Mutation SNP C C T rs61730891 byFrequency TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr13:99083304C>T ENST00000376586.2 + 18 2249 c.1913C>T c.(1912-1914)gCg>gTg p.A638V FARP1_ENST00000595437.1_Missense_Mutation_p.A638V|FARP1_ENST00000319562.6_Missense_Mutation_p.A638V Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 638 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AAGCACCTGGCGGCTCACCTG 0.587000 5 112 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152770259 152770259 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:152770259C>T ENST00000331595.4 + 2 356 c.170C>T c.(169-171)cCc>cTc p.P57L BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_5'UTR NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 57 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGTCACACCCACCTACAGC 0.622000 79 98 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34235499 34235499 + RNA SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr17:34235499G>A ENST00000587132.1 - 0 2528 AGGTGTCATTGCAGGTGCTGG 0.507000 4 73 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122561827 122561827 + Nonsense_Mutation SNP G G A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:122561827G>A ENST00000264357.5 + 12 2205 c.1913G>A c.(1912-1914)tGg>tAg p.W638* GRIA3_ENST00000371256.5_Nonsense_Mutation_p.W638*|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W638*|GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W638* NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 638 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) GGGGTTTGGTGGTTCTTCACC 0.443000 16 306 0 0 1 0 0 RBP1 5947 broad.mit.edu 37 3 139237308 139237308 + Silent SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr3:139237308C>T ENST00000232219.2 - 3 605 c.495G>A c.(493-495)gaG>gaA p.E165E RP11-319G6.1_ENST00000515247.1_RNA NM_002899.3 NP_002890.2 P09455 RET1_HUMAN retinol binding protein 1, cellular 103 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) AGCCACGCCCCTCCTTCTCAC 0.597000 7 102 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56422063 56422063 + Missense_Mutation SNP G G C rs144412914 by1000genomes TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr19:56422063G>C ENST00000588751.1 - 6 2172 c.2148C>G c.(2146-2148)aaC>aaG p.N716K NLRP13_ENST00000342929.3_Missense_Mutation_p.N716K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 716 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGCAAATGCTGTTCCATGCGT 0.458000 41 39 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744248 81744248 + Missense_Mutation SNP T T G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr14:81744248T>G ENST00000555447.1 - 6 1819 c.1407A>C c.(1405-1407)aaA>aaC p.K469N STON2_ENST00000267540.2_Missense_Mutation_p.K469N NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 469 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CACGGAATGGTTTTTCTAGGC 0.478000 12 290 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66441064 66441064 + Missense_Mutation SNP A A C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr5:66441064A>C ENST00000404260.3 + 23 3268 c.2960A>C c.(2959-2961)gAg>gCg p.E987A MAST4_ENST00000403625.2_Missense_Mutation_p.E984A|MAST4_ENST00000403666.1_Missense_Mutation_p.E795A|MAST4_ENST00000261569.7_Missense_Mutation_p.E790A|MAST4_ENST00000405643.1_Missense_Mutation_p.E805A O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 987 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ATTTCAACAGAGGGAGAGCAA 0.512000 14 23 0 0 1 0 0 NKX2-1 7080 broad.mit.edu 37 14 36987093 36987093 + Nonsense_Mutation SNP G G T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr14:36987093G>T ENST00000518149.1 - 3 1111 c.506C>A c.(505-507)tCg>tAg p.S169* NKX2-1_ENST00000354822.5_Nonsense_Mutation_p.S199*|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Nonsense_Mutation_p.S169*|NKX2-1_ENST00000522719.2_Nonsense_Mutation_p.S169* P43699 NKX21_HUMAN NK2 homeobox 1 169 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) CTGCGCCTGCGAGAAGAGCAC 0.682000 A NSCLC 3 19 1 1 1 1 0 FAT4 79633 broad.mit.edu 37 4 126371851 126371851 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr4:126371851C>T ENST00000394329.3 + 9 9693 c.9680C>T c.(9679-9681)gCt>gTt p.A3227V FAT4_ENST00000335110.5_Missense_Mutation_p.A1525V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3227 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGAACAAATGCTGTGATTGCG 0.428000 3 130 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179435116 179435116 + Missense_Mutation SNP C C A TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr2:179435116C>A ENST00000589042.1 - 326 75967 c.75743G>T c.(75742-75744)aGc>aTc p.S25248I TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16183I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23607I|TTN_ENST00000359218.5_Missense_Mutation_p.S16308I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22680I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16375I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23607 Ig-like 124. 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) AACTAAGCGGCTGGTTTCTCT 0.438000 3 65 1 1 1 1 0 PTCHD1 139411 broad.mit.edu 37 X 23353202 23353202 + Silent SNP T T G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:23353202T>G ENST00000379361.4 + 1 1070 c.210T>G c.(208-210)gtT>gtG p.V70V NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 70 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 GCAACCTCGTTAACAGCCTCT 0.657000 4 68 0 0 1 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132343 59132343 + Missense_Mutation SNP T T C TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr11:59132343T>C ENST00000313940.2 + 1 459 c.412T>C c.(412-414)Tca>Cca p.S138P NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, member 1 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 ATCCATCATGTCACCCACCCT 0.478000 8 231 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16960898 16960913 + RNA DEL GTGTGTGTGTGTGTGC GTGTGTGTGTGTGTGC - rs71703041 by1000genomes TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr1:16960898_16960913delGTGTGTGTGTGTGTGC ENST00000412962.1 - 0 16 gtgtgtgtgtgtgtgtgtgtgtgtgcgcgtgtgtgA 0.431 3 4 --- --- --- --- FUBP1 8880 broad.mit.edu 37 1 78432402 78432405 + Frame_Shift_Del DEL AACA AACA - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr1:78432402_78432405delAACA ENST00000370767.1 - 7 533_536 c.446_449delTGTT c.(445-450)aafs p.ML149fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.ML149fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.ML170fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 149 KH 1. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TGTTCCAGTTAACATACAGGACCT 0.338 """F, N""" oligodendroglioma 30 43 --- --- --- --- FAM102B 284611 broad.mit.edu 37 1 109103056 109103058 + In_Frame_Del DEL GAA GAA - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr1:109103056_109103058delGAA ENST00000370035.3 + 1 346_348 c.6_8delGAA c.(4-9)atg>at p.MK2del FAM102B_ENST00000405454.1_In_Frame_Del_p.MK2del NM_001010883.2 NP_001010883.2 Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B 2 autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) TCACGATGATGAAGAAGAAGAAG 0.640 12 8 --- --- --- --- C1orf56 54964 broad.mit.edu 37 1 151021328 151021331 + Splice_Site DEL AGTA AGTA - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr1:151021328_151021331delAGTA ENST00000368926.5 + 1 1113 c.1005_splice c.e1+1 p.335_splice C1orf56_ENST00000465135.1_3'UTR NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 335 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGATGCAACCAGTAAGTGTTTGGT 0.505 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 120 --- --- --- --- EPC2 26122 broad.mit.edu 37 2 149511681 149511682 + Frame_Shift_Del DEL AG AG - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr2:149511681_149511682delAG ENST00000258484.6 + 4 679_680 c.645_646delAG c.(643-648)acagfs p.TE215fs NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 215 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) GGAGAAGAACAGAGAAAATGCA 0.361 13 13 --- --- --- --- MYH15 22989 broad.mit.edu 37 3 108103610 108103612 + In_Frame_Del DEL TTC TTC - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr3:108103610_108103612delTTC ENST00000273353.3 - 40 5669_5671 c.5613_5615delGAA c.(5611-5616)aat>aa p.KN1871del NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1871 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCTGCTCAGATTCTTCTTGTCTT 0.473 55 131 --- --- --- --- RP11-625I7.1 0 broad.mit.edu 37 4 78359289 78359290 + RNA INS - - CA rs56310013 by1000genomes TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr4:78359289_78359290insCA ENST00000513871.1 - 0 122 tatttctctttcacacacacac 0.396 2 4 --- --- --- --- PCDH18 54510 broad.mit.edu 37 4 138442647 138442649 + In_Frame_Del DEL TCT TCT - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr4:138442647_138442649delTCT ENST00000344876.4 - 4 3328_3330 c.2942_2944delAGA c.(2941-2946)agt>a p.KS981del PCDH18_ENST00000412923.2_In_Frame_Del_p.KS980del|PCDH18_ENST00000511115.1_In_Frame_Del_p.KS161del|PCDH18_ENST00000510305.1_In_Frame_Del_p.KS192del|PCDH18_ENST00000507846.1_In_Frame_Del_p.KS760del NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 981 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GTGGAAAAACTCTTCTTCTTTTC 0.512 20 109 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101733783 101733784 + Frame_Shift_Ins INS - - T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr8:101733783_101733784insT ENST00000318607.5 - 1 1156_1157 c.28_29insA c.(28-30)ggcfs p.G10fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.G10fs|PABPC1_ENST00000519004.1_Intron NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 10 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GAGCGAGGCCATGGGGTAGCTG 0.698 10 29 --- --- --- --- ZNF503-AS1 0 broad.mit.edu 37 10 77089189 77089196 + RNA DEL CTTCCTTT CTTCCTTT - rs4746286 TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr10:77089189_77089196delCTTCCTTT ENST00000416398.1 + 0 262 RP11-399K21.11_ENST00000418818.2_lincRNA NR_038223.1 tccttccttccttcctttctttctttct 0.394 4 7 --- --- --- --- C11orf63 79864 broad.mit.edu 37 11 122805551 122805554 + Frame_Shift_Del DEL AAAG AAAG - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr11:122805551_122805554delAAAG ENST00000227349.2 + 5 1699_1702 c.1402_1405delAAAG c.(1402-1407)aafs p.KE468fs C11orf63_ENST00000531316.1_Frame_Shift_Del_p.KE468fs NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 468 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GAATGTTAATAAAGAAAGAGGACA 0.377 12 199 --- --- --- --- ESR2 0 broad.mit.edu 37 14 64699865 64699866 + Frame_Shift_Del DEL TG TG - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr14:64699865_64699866delTG ENST00000341099.4 - 9 1999_2000 c.1582_1583delCA c.(1582-1584)gfs p.Q528fs ESR2_ENST00000553796.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000267525.6_Frame_Shift_Del_p.Q437fs|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000554572.1_Intron NM_001437.2 NP_001428.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 528 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) TCACTGAGACTGTGGGTTCTGG 0.604 17 88 --- --- --- --- ABCA8 10351 broad.mit.edu 37 17 66887644 66887645 + Frame_Shift_Ins INS - - G TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr17:66887644_66887645insG ENST00000269080.2 - 22 3146_3147 c.3009_3010insC c.(3007-3012)agtcgafs p.R1004fs ABCA8_ENST00000586539.1_Frame_Shift_Ins_p.R1044fs|ABCA8_ENST00000430352.2_Frame_Shift_Ins_p.R1044fs NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1004 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TAATCATCGATGCTGCTCATGG 0.347 26 59 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795593 42795594 + Frame_Shift_Del DEL TG TG - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr19:42795593_42795594delTG ENST00000572681.2 + 11 5468_5469 c.5400_5401delTG c.(5398-5403)tctafs p.SV1800fs CIC_ENST00000575354.2_Frame_Shift_Del_p.SV891fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.SV891fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 891 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TCCTGCAGTCTGTACCCTCCGC 0.624 """Mis, F, S""" oligodendroglioma 7 64 --- --- --- --- ZNF334 55713 broad.mit.edu 37 20 45130734 45130736 + In_Frame_Del DEL AAG AAG - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr20:45130734_45130736delAAG ENST00000457685.2 - 6 2451_2453 c.1128_1130delCTT c.(1126-1131)ttt>tt p.FF376del ZNF334_ENST00000347606.4_In_Frame_Del_p.FF414del|ZNF334_ENST00000593880.1_In_Frame_Del_p.FF437del Q9HCZ1 ZN334_HUMAN zinc finger protein 334 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) AGATTGACAAAAGAAGGTTTTCT 0.424 41 158 --- --- --- --- GNAS-AS1 0 broad.mit.edu 37 20 57405539 57405539 + RNA DEL T T - rs140868991 by1000genomes TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chr20:57405539delT ENST00000424094.2 - 0 819 GNAS-AS1_ENST00000598163.1_RNA NR_002785.2 atcatcaccatcaccaccatc 0.567 2 4 --- --- --- --- OGT 8473 broad.mit.edu 37 X 70756047 70756050 + Frame_Shift_Del DEL TTCC TTCC - TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad0bc157-fb99-4b6c-80b7-384aac4304c0 f4361c01-824e-4b40-9f03-767a2796e586 g.chrX:70756047_70756050delTTCC ENST00000373719.3 + 2 274_277 c.57_60delTTCC c.(55-60)ctfs p.LS19fs OGT_ENST00000373701.3_Intron|OGT_ENST00000498566.1_3'UTR NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 19 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) AACGTATGCTTTCCTTCCAAGGGT 0.426 44 87 --- --- --- ---