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 NDUFV1 4723 broad.mit.edu 37 11 67375940 67375940 + Missense_Mutation SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr11:67375940A>G ENST00000322776.6 + 2 299 c.146A>G c.(145-147)cAt>cGt p.H49R NDUFV1_ENST00000415352.2_Missense_Mutation_p.H42R|NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H40R NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 49 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) TACGGCCGCCATGACTGGAGG 0.557000 22 282 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16590333 16590333 + Splice_Site SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr4:16590333A>G ENST00000502640.1 - 4 679 c.531_splice c.e4+1 p.H177_splice LDB2_ENST00000503178.2_Splice_Site_p.H53_splice|LDB2_ENST00000441778.2_Splice_Site_p.H177_splice|LDB2_ENST00000515064.1_Splice_Site_p.H177_splice|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Splice_Site_p.H177_splice O43679 LDB2_HUMAN LIM domain binding 2 177 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 AATTACTTACATGCATGGCTA 0.388000 12 76 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126202303 126202303 + Missense_Mutation SNP A A G rs141282463 TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr3:126202303A>G ENST00000290868.2 - 19 1852 c.1799T>C c.(1798-1800)gTg>gCg p.V600A UROC1_ENST00000383579.3_Missense_Mutation_p.V660A NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 600 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CCCGTTGATCACCTCACCCCT 0.597000 8 41 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653589 159653589 + Missense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr6:159653589G>A ENST00000297267.9 + 11 2245 c.2045G>A c.(2044-2046)cGc>cAc p.R682H FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 682 Ser-rich. extracellular region p.R682H(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGCGTTCTCCGCGACAGAAGC 0.716000 7 52 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121961146 121961146 + Silent SNP C C T TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr4:121961146C>T ENST00000379692.4 - 3 778 c.252G>A c.(250-252)gcG>gcA p.A84A NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 84 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 ACTCCAAAGGCGCATCACAGG 0.522000 5 99 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408000 4 84 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179745955 179745955 + Splice_Site SNP C C T TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr5:179745955C>T ENST00000253778.8 - 10 965 c.794_splice c.e10-1 p.A266_splice GFPT2_ENST00000520165.1_5'UTR NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 266 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TCTATGATAGCGCTGGGGCAA 0.607000 8 34 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68822730 68822730 + Nonsense_Mutation SNP C C A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr11:68822730C>A ENST00000294309.3 + 4 440 c.339C>A c.(337-339)taC>taA p.Y113* TPCN2_ENST00000542467.1_Nonsense_Mutation_p.Y113*|TPCN2_ENST00000442692.2_3'UTR NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 113 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACGTGCGCTACCGCGCTGCTC 0.617000 22 155 5.35356e-11 5.68816e-11 1 1 0 PSME1 5720 broad.mit.edu 37 14 24606557 24606557 + Missense_Mutation SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr14:24606557A>G ENST00000382708.3 + 4 226 c.163A>G c.(163-165)Agc>Ggc p.S55G PSME1_ENST00000561435.1_Missense_Mutation_p.S55G|PSME1_ENST00000206451.6_Missense_Mutation_p.S55G|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR NM_176783.1 NP_788955.1 Q06323 PSME1_HUMAN proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) 55 S -> N (in dbSNP:rs1803830). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(265;0.00831) AGCCAACTTGAGCAATCTGAA 0.557000 8 137 0 0 1 0 0 SPRR2F 0 broad.mit.edu 37 1 153085010 153085010 + Missense_Mutation SNP C C A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr1:153085010C>A ENST00000468739.1 - 2 260 c.200G>T c.(199-201)tGt>tTt p.C67F SPRR2B_ENST00000368752.4_Intron NM_001014450.1 NP_001014450.1 Q96RM1 SPR2F_HUMAN small proline-rich protein 2F 67 keratinization cornified envelope|cytoplasm p.C67F(1) large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 4 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTTGGGTGGACACTTTGGCTG 0.542000 7 286 2.74318e-10 2.85515e-10 1 1 0 PDIK1L 149420 broad.mit.edu 37 1 26449050 26449050 + Silent SNP T T C TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr1:26449050T>C ENST00000374271.4 + 4 1295 c.1008T>C c.(1006-1008)gaT>gaC p.D336D PDIK1L_ENST00000374269.1_Silent_p.D336D NM_001243532.1|NM_001243533.1|NM_152835.4 NP_001230461.1|NP_001230462.1|NP_690048.1 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 336 nucleus ATP binding|protein serine/threonine kinase activity large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) CATTTAAAGATAGCAGCTGGG 0.373000 6 62 0 0 1 0 0 TEX29 121793 broad.mit.edu 37 13 111996453 111996453 + Missense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr13:111996453G>A ENST00000283547.1 + 6 568 c.439G>A c.(439-441)Gaa>Aaa p.E147K NM_152324.1 NP_689537.1 Q8N6K0 CM016_HUMAN testis expressed 29 147 integral to membrane AACAGAAGCCGAAGAAACTGA 0.378000 5 53 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38431360 38431360 + Missense_Mutation SNP T T A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr5:38431360T>A ENST00000322350.5 + 15 2482 c.2136T>A c.(2134-2136)gaT>gaA p.D712E EGFLAM_ENST00000336740.6_Missense_Mutation_p.D478E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D712E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D78E NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 712 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TACAGGTGGATAAGCAGAAGA 0.478000 11 65 0 0 1 0 0 STXBP2 6813 broad.mit.edu 37 19 7707903 7707903 + Missense_Mutation SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr19:7707903A>G ENST00000441779.2 + 12 1065 c.1028A>G c.(1027-1029)aAg>aGg p.K343R STXBP2_ENST00000414284.2_Missense_Mutation_p.K329R|STXBP2_ENST00000221283.5_Missense_Mutation_p.K332R NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 332 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 ATCCTGAAAAAGATGCCGCAG 0.612000 4 148 0 0 1 0 0 RPS27A 6233 broad.mit.edu 37 2 55462094 55462094 + Missense_Mutation SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr2:55462094A>G ENST00000272317.6 + 5 641 c.317A>G c.(316-318)tAt>tGt p.Y106C RPS27A_ENST00000404735.1_Missense_Mutation_p.Y106C|RPS27A_ENST00000402285.3_Missense_Mutation_p.Y106C NM_002954.5 NP_002945.1 P62979 RS27A_HUMAN ribosomal protein S27a 106 activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome cervix(1)|ovary(1)|urinary_tract(1) 3 CTGAAATATTATAAGGTGAGC 0.378000 5 24 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116734977 116734977 + Missense_Mutation SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr10:116734977A>G ENST00000298746.3 + 8 950 c.889A>G c.(889-891)Att>Gtt p.I297V NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 297 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) CAAATGGACAATTGATGACAT 0.433000 16 149 0 0 1 0 0 HIST1H4H 8365 broad.mit.edu 37 6 26285590 26285590 + Silent SNP T T G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr6:26285590T>G ENST00000289352.1 - 1 172 c.138A>C c.(136-138)cgA>cgC p.R46R HIST1H4H_ENST00000377727.1_Silent_p.R46R P62805 H4_HUMAN histone cluster 1, H4h 46 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(2)|ovary(2)|upper_aerodigestive_tract(3) 7 GGCCAGAAATTCGCTTGACAC 0.547000 HNSCC(76;0.23) 11 124 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75814962 75814962 + Missense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr6:75814962G>A ENST00000322507.8 - 54 8534 c.8225C>T c.(8224-8226)aCa>aTa p.T2742I COL12A1_ENST00000345356.6_Missense_Mutation_p.T1578I|COL12A1_ENST00000483888.2_Missense_Mutation_p.T2742I|COL12A1_ENST00000416123.2_Missense_Mutation_p.T2666I NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2742 Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GCTGTCCTGTGTACATGTGCA 0.378000 4 48 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6262661 6262661 + Splice_Site SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr11:6262661G>A ENST00000379936.2 + 5 1033 c.917_splice c.e5-1 p.W306_splice CNGA4_ENST00000533426.1_Splice_Site_p.W75_splice NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 306 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTACTCTCAGGTATCAGCACC 0.552000 21 110 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000571206.1_5'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 6 27 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 70 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72028171 72028171 + Missense_Mutation SNP C C T TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr11:72028171C>T ENST00000294053.3 - 8 1230 c.1057G>A c.(1057-1059)Gcc>Acc p.A353T CLPB_ENST00000543042.1_Missense_Mutation_p.A152T|CLPB_ENST00000437826.2_Missense_Mutation_p.A308T|CLPB_ENST00000538039.1_Missense_Mutation_p.A323T|CLPB_ENST00000340729.5_Missense_Mutation_p.A294T NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 353 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 GTGGCGATGGCGCTCTCCTGG 0.612000 4 171 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53569195 53569195 + Missense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr8:53569195G>A ENST00000025008.5 - 15 3717 c.3194C>T c.(3193-3195)gCg>gTg p.A1065V RB1CC1_ENST00000435644.2_Missense_Mutation_p.A1065V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.A1065V|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1065 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TTCCTTCAACGCAAGTTCAAC 0.383000 3 44 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10452394 10452394 + Missense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr3:10452394G>A ENST00000397077.1 - 5 880 c.305C>T c.(304-306)gCg>gTg p.A102V ATP2B2_ENST00000360273.2_Missense_Mutation_p.A102V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A102V Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 102 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GTCCTGCAGCGCCTCCCACAC 0.562000 31 490 0 0 1 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456444 30456444 + Missense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr16:30456444G>A ENST00000478753.2 - 1 1058 c.605C>T c.(604-606)gCg>gTg p.A202V SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V Q99611 SPS2_HUMAN selenophosphate synthetase 2 202 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 TTCCTCAGCCGCATCCCGAAA 0.527000 4 128 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24564490 24564490 + Nonsense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr6:24564490G>A ENST00000535378.1 - 16 2986 c.2344C>T c.(2344-2346)Cga>Tga p.R782* KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.R746*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.R791* NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 791 PKD 5. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TCGGTGACTCGCAAGTGGAAA 0.587000 4 71 0 0 1 0 0 TMEM150B 284417 broad.mit.edu 37 19 55831946 55831946 + Silent SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr19:55831946A>G ENST00000326652.4 - 4 290 c.108T>C c.(106-108)agT>agC p.S36S TMEM150B_ENST00000438693.1_Silent_p.S36S A6NC51 T150B_HUMAN transmembrane protein 150B 36 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 GAAAGCCTTTACTGAGGTCCA 0.527000 5 171 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35778739 35778739 + Missense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr3:35778739G>A ENST00000187397.4 + 16 1985 c.1529G>A c.(1528-1530)cGa>cAa p.R510Q ARPP21_ENST00000444190.1_Missense_Mutation_p.R456Q|ARPP21_ENST00000417925.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000337271.5_Missense_Mutation_p.R456Q NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 510 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CAGCCCCTGCGAAGCGCCATG 0.612000 11 108 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5730757 5730757 + Missense_Mutation SNP T T G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr11:5730757T>G ENST00000379965.3 + 8 1653 c.1376T>G c.(1375-1377)gTc>gGc p.V459G TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 459 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TTTTTCAATGTCACAAACCAC 0.463000 12 157 0 0 1 0 0 HIST1H3F 8968 broad.mit.edu 37 6 26250482 26250482 + Missense_Mutation SNP C C T TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr6:26250482C>T ENST00000446824.2 - 1 353 c.352G>A c.(352-354)Gtg>Atg p.V118M NM_021018.2 NP_066298.1 P68431 H31_HUMAN histone cluster 1, H3f 118 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding lung(6)|urinary_tract(1) 7 ATGATAGTCACTCGCTTGGCG 0.582000 OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 119 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310305 24310305 + Silent SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr19:24310305A>G ENST00000357002.4 + 4 1618 c.1503A>G c.(1501-1503)caA>caG p.Q501Q ZNF254_ENST00000342944.6_Silent_p.Q416Q NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 501 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) CTTTTAGCCAATCCTCAACCC 0.403000 4 77 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346947 71346947 + Silent SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr4:71346947A>G ENST00000413702.1 + 4 774 c.486A>G c.(484-486)ccA>ccG p.P162P MUC7_ENST00000304887.5_Silent_p.P162P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.P162P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 162 Thr-rich. P -> A (in Ref. 4; AA sequence and 5; AA sequence). 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) CCCCAGCTCCACAAGACACCA 0.517000 5 190 0 0 1 0 0 CEP170P1 0 broad.mit.edu 37 4 119461491 119461491 + RNA SNP G G C TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr4:119461491G>C ENST00000412784.2 + 0 388 NR_003135.2 TCAAGCAGCAGAGCCTCCCGA 0.448000 7 29 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809236 31809236 + Nonsense_Mutation SNP C C T TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr10:31809236C>T ENST00000446923.2 + 7 1316 c.925C>T c.(925-927)Cga>Tga p.R309* ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R258*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R305*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R326*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.R325* NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 325 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CAGTCCCACACGACCACAGAT 0.428000 6 49 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56935562 56935562 + Missense_Mutation SNP G G A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr19:56935562G>A ENST00000333201.9 + 5 1745 c.1535G>A c.(1534-1536)aGa>aAa p.R512K ZNF583_ENST00000291598.7_Missense_Mutation_p.R512K|ZNF583_ENST00000585612.1_Intron NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) CTACATCAGAGAATTCATACT 0.388000 19 104 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137569739 137569739 + Splice_Site SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr7:137569739A>G ENST00000330387.6 - 10 1622 c.e10+1 CREB3L2_ENST00000456390.1_Silent_p.G424G NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 ATGCTGTCTTACCCACGGAGG 0.522000 T FUS fibromyxoid sarcoma 22 140 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47836289 47836289 + Missense_Mutation SNP A A C TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr21:47836289A>C ENST00000359568.5 + 30 6564 c.6457A>C c.(6457-6459)Aat>Cat p.N2153H PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2153 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTGTGATGCCAATACAACCCC 0.443000 22 95 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355594 33355594 + Missense_Mutation SNP G G A rs146154087 TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr19:33355594G>A ENST00000023064.4 - 3 367 c.176C>T c.(175-177)aCg>aTg p.T59M SLC7A9_ENST00000587772.1_Missense_Mutation_p.T59M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.T59M NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 59 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) CACAGCTTCCGTGTTGCTGAG 0.612000 5 230 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214557031 214557031 + Frame_Shift_Del DEL G G - TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr1:214557031delG ENST00000366956.5 - 13 2361 c.2167delC c.(2167-2169)agfs p.Q723fs PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 723 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ATGGGGATCTGGGGCACCGAT 0.617 9 98 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 8 234 --- --- --- --- RASGEF1A 221002 broad.mit.edu 37 10 43698747 43698747 + Splice_Site DEL T T - TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr10:43698747delT ENST00000395809.1 - 3 2826 c.321_splice c.e3+1 p.K107_splice RASGEF1A_ENST00000374459.1_Splice_Site_p.K115_splice|RASGEF1A_ENST00000395810.1_Splice_Site_p.K107_splice|RASGEF1A_ENST00000472864.1_5'UTR Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 107 N-terminal Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 CCGCCTCACCTTTTCAGGCCC 0.697 2 4 --- --- --- --- B4GALNT4 338707 broad.mit.edu 37 11 376692 376692 + Frame_Shift_Del DEL A A - TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr11:376692delA ENST00000329962.6 + 14 1569 c.1569delA c.(1567-1569)ccfs p.P523fs NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 523 Pro-rich. Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCCGCCCCCAAAGGTGTACG 0.771 2 4 --- --- --- --- MYO7A 4647 broad.mit.edu 37 11 76901186 76901186 + Splice_Site DEL T T - TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr11:76901186delT ENST00000409709.3 + 29 4022 c.e29+2 MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAGCTGCAGGTTCgtgcgtgt 0.622 2 4 --- --- --- --- RP11-26F2.1 0 broad.mit.edu 37 15 23131706 23131706 + RNA DEL A A - TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr15:23131706delA ENST00000560053.1 - 0 129 GATATTCTCCAATGTCATTTT 0.259 5 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 5 10 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825852 9825853 + RNA INS - - A TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39 b4701be8-2c61-4a86-8220-6b3a3550b60e g.chr21:9825852_9825853insA ENST00000581792.1 + 0 21_22 NR_037421.1 gcggcggtggtggggggagccg 0.837 4 3 --- --- --- ---