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 LGSN 51557 broad.mit.edu 37 6 63990360 63990360 + Nonsense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr6:63990360G>A ENST00000370657.4 - 4 1129 c.1096C>T c.(1096-1098)Cga>Tga p.R366* LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 366 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TAACGCTTTCGGCAGCTAACA 0.478000 4 131 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769150 88769150 + RNA SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr10:88769150C>T ENST00000444431.1 + 0 3750 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TTCCCGTGTGCGATCTCTGGA 0.537000 4 251 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27963447 27963447 + Missense_Mutation SNP T T C TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr17:27963447T>C ENST00000269033.3 - 14 1871 c.1720A>G c.(1720-1722)Aaa>Gaa p.K574E RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 574 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATTAAGGCTTTGGATGCATGG 0.403000 3 52 0 0 1 0 0 PTGR2 145482 broad.mit.edu 37 14 74346776 74346776 + Missense_Mutation SNP A A G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr14:74346776A>G ENST00000555661.1 + 7 893 c.748A>G c.(748-750)Atc>Gtc p.I250V PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.I116V|PTGR2_ENST00000554885.1_Missense_Mutation_p.I201V Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 250 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 GAACAGCCACATCATCCTGTG 0.413000 14 33 0 0 1 0 0 GUF1 60558 broad.mit.edu 37 4 44682800 44682800 + Missense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr4:44682800G>A ENST00000281543.5 + 3 561 c.367G>A c.(367-369)Gca>Aca p.A123T GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 123 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 AGCACAGACAGCATCTCTCTT 0.323000 7 22 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33143390 33143390 + Silent SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr6:33143390C>T ENST00000341947.2 - 30 2564 c.2337G>A c.(2335-2337)ccG>ccA p.P779P COL11A2_ENST00000395197.1_Silent_p.P719P|COL11A2_ENST00000374714.1_Silent_p.P753P|COL11A2_ENST00000361917.1_Silent_p.P672P|COL11A2_ENST00000357486.1_Silent_p.P758P|COL11A2_ENST00000374713.1_Silent_p.P732P|COL11A2_ENST00000374712.1_Silent_p.P698P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Silent_p.P693P NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 779 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGTCTCCAGTCGGTCCAGTGC 0.647000 4 84 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925492 114925492 + Missense_Mutation SNP G G A rs61724286 TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr10:114925492G>A ENST00000545257.1 + 15 2128 c.1621G>A c.(1621-1623)Gac>Aac p.D541N TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.D541N|TCF7L2_ENST00000369397.4_Missense_Mutation_p.D518N|TCF7L2_ENST00000543371.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000536810.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.D257N|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 541 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CCTGAAGCCCGACCCCCTGGC 0.692000 T VTI1A colorectal 6 122 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854090 40854090 + Missense_Mutation SNP A A G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr5:40854090A>G ENST00000254691.5 + 3 2855 c.2656A>G c.(2656-2658)Ata>Gta p.I886V CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 886 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TGGAAAACTGATAAGAACATC 0.488000 32 85 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185963 127185963 + Nonsense_Mutation SNP C C A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chrX:127185963C>A ENST00000371124.3 - 1 419 c.223G>T c.(223-225)Gag>Tag p.E75* NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 75 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 AGTCCACGCTCAATGGGGTAG 0.463000 4 115 0.150653 0.150653 1 1 0 NXF3 56000 broad.mit.edu 37 X 102337986 102337986 + Nonsense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chrX:102337986G>A ENST00000395065.3 - 7 738 c.637C>T c.(637-639)Cag>Tag p.Q213* NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124* NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 213 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 ACATCACACTGTTGGTTCATG 0.512000 71 71 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886915 123886915 + Silent SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr11:123886915C>T ENST00000320891.4 + 1 634 c.634C>T c.(634-636)Ctg>Ttg p.L212L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTGCTTTGTCCTGATAGTGCT 0.562000 24 95 0 0 1 0 0 PPM1G 5496 broad.mit.edu 37 2 27608655 27608655 + Missense_Mutation SNP T T C TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr2:27608655T>C ENST00000344034.4 - 4 632 c.368A>G c.(367-369)gAg>gGg p.E123G PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 123 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) ATCTTCATCCTCAGTGGGTCG 0.403000 3 48 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461248 11461248 + Silent SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr12:11461248C>T ENST00000279575.1 - 3 702 c.669G>A c.(667-669)aaG>aaA p.K223K PRB4_ENST00000445719.2_Silent_p.K154K|PRB4_ENST00000535904.1_Silent_p.K223K NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 286 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GCCCCTGGGGCTTTCCAGCAG 0.622000 HNSCC(22;0.051) 43 132 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185962 127185962 + Missense_Mutation SNP T T G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chrX:127185962T>G ENST00000371124.3 - 1 420 c.224A>C c.(223-225)gAg>gCg p.E75A NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 75 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CAGTCCACGCTCAATGGGGTA 0.468000 5 121 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144995923 144995923 + Missense_Mutation SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr8:144995923C>T ENST00000322810.4 - 32 8646 c.8477G>A c.(8476-8478)cGc>cAc p.R2826H PLEC_ENST00000356346.3_Missense_Mutation_p.R2675H|PLEC_ENST00000354589.3_Missense_Mutation_p.R2689H|PLEC_ENST00000527096.1_Missense_Mutation_p.R2712H|PLEC_ENST00000357649.2_Missense_Mutation_p.R2693H|PLEC_ENST00000398774.2_Missense_Mutation_p.R2657H|PLEC_ENST00000436759.2_Missense_Mutation_p.R2716H|PLEC_ENST00000354958.2_Missense_Mutation_p.R2667H|PLEC_ENST00000345136.3_Missense_Mutation_p.R2689H NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2826 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CAGGTAGTGGCGCACGTCTTC 0.662000 12 65 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214171320 214171320 + Missense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr1:214171320G>A ENST00000366958.4 + 2 2050 c.1442G>A c.(1441-1443)cGc>cAc p.R481H PROX1_ENST00000435016.1_Missense_Mutation_p.R481H|PROX1_ENST00000261454.4_Missense_Mutation_p.R481H|PROX1_ENST00000498508.2_Missense_Mutation_p.R481H NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 481 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TCCACCTTCCGCCACCCCTTC 0.637000 23 129 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34015067 34015067 + Silent SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr15:34015067C>T ENST00000389232.4 + 44 6841 c.6771C>T c.(6769-6771)gaC>gaT p.D2257D RYR3_ENST00000415757.3_Silent_p.D2257D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2257 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGCGCTCGACCTCCCCTCTC 0.557000 38 88 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14083867 14083867 + Silent SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr19:14083867G>A ENST00000254325.4 - 9 1236 c.1002C>T c.(1000-1002)gcC>gcT p.A334A NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 334 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CCGTGCCTGCGGCCTCGTAGT 0.667000 12 37 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162338 90162338 + RNA SNP T T C TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr16:90162338T>C ENST00000567960.1 + 0 1074 TUBB8P7_ENST00000564451.1_RNA GACATCCCACTCCGGGGGCTA 0.483000 5 124 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036898 32036898 + Missense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr6:32036898G>A ENST00000375244.3 - 16 5804 c.5603C>T c.(5602-5604)aCg>aTg p.T1868M TNXB_ENST00000375247.2_Missense_Mutation_p.T1868M P22105 TENX_HUMAN tenascin XB 1950 Fibronectin type-III 11. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTCAGTTTCCGTTTCTTCCCT 0.632000 7 23 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019398 131019398 + Missense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr9:131019398G>A ENST00000421699.2 - 26 2969 c.2957C>T c.(2956-2958)cCt>cTt p.P986L NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 986 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GTAAAAAAAAGGAATGCAGGG 0.557000 4 170 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101916637 101916637 + Splice_Site SNP G G T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr7:101916637G>T ENST00000437600.4 + 15 1602 c.1249_splice c.e15-1 p.G417_splice CUX1_ENST00000292538.4_Splice_Site_p.G419_splice|CUX1_ENST00000425244.2_Splice_Site_p.G373_splice|CUX1_ENST00000393824.3_Splice_Site_p.G380_splice|CUX1_ENST00000547394.2_Splice_Site_p.G403_splice|CUX1_ENST00000560541.1_3'UTR NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 408 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TTGGCCACAGGACGCTGTGCA 0.627000 3 12 0.004672 0.00495515 1 1 0 AC018865.8 0 broad.mit.edu 37 2 130786055 130786055 + RNA SNP A A T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr2:130786055A>T ENST00000325390.3 - 0 2812 NR_026758.1 AGACCTGGAAACCTGGGGGAA 0.428000 4 4 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 3 63 0 0 1 0 0 PCDHB18 0 broad.mit.edu 37 5 140616414 140616414 + RNA SNP A A G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr5:140616414A>G ENST00000526308.1 + 0 2477 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GGGGCAAATGAGTTCAAGTTC 0.562000 20 94 0 0 1 0 0 AC018865.8 0 broad.mit.edu 37 2 130786063 130786063 + RNA SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr2:130786063G>A ENST00000325390.3 - 0 2811 NR_026758.1 AAACCTGGGGGAAAAAAGAGA 0.423000 4 5 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51049325 51049325 + Splice_Site SNP T T C TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr1:51049325T>C ENST00000396153.2 - 11 1481 c.1031_splice c.e11+1 p.R344_splice FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Splice_Site_p.R102_splice|FAF1_ENST00000371778.4_Splice_Site_p.R344_splice NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 344 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TAACCCTACCTTGAAGAAAAC 0.289000 10 31 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79577247 79577247 + Missense_Mutation SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr17:79577247C>T ENST00000374747.5 - 5 553 c.424G>A c.(424-426)Gtc>Atc p.V142I NPLOC4_ENST00000539314.1_Intron|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000331134.6_Missense_Mutation_p.V142I Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 142 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TCTAGAGGGACGCAGTGCACG 0.587000 3 4 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17612416 17612416 + Missense_Mutation SNP C C G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr8:17612416C>G ENST00000381869.3 - 2 1374 c.901G>C c.(901-903)Gtc>Ctc p.V301L MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000262102.6_Missense_Mutation_p.V301L|MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 301 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TCATTGGGGACTTCCATGCCA 0.433000 4 144 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39180260 39180260 + Missense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr3:39180260G>A ENST00000301819.6 + 29 4124 c.3947G>A c.(3946-3948)cGa>cAa p.R1316Q TTC21A_ENST00000431162.2_Missense_Mutation_p.R1315Q|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1267Q NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 1315 R -> K (in dbSNP:rs704959). binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GAAAAGGCCCGAAGGTCCCTG 0.552000 9 44 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27023620 27023621 + In_Frame_Ins INS - - GCG TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr1:27023620_27023621insGCG ENST00000324856.7 + 1 1097_1098 c.726_727insGCG c.(724-729)ggcggc>ggGCGcggc p.242_243GG>GRG ARID1A_ENST00000457599.2_In_Frame_Ins_p.242_243GG>GRG NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 242 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CGGGCTCCGGCGCGGCGGCGGC 0.738 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 4 4 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 4 --- --- --- --- ATE1 11101 broad.mit.edu 37 10 123659394 123659395 + Frame_Shift_Ins INS - - GC TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr10:123659394_123659395insGC ENST00000535655.1 - 5 983_984 c.31_32insGC c.(31-33)aacfs p.N11fs ATE1_ENST00000540606.1_Intron|ATE1_ENST00000224652.6_Frame_Shift_Ins_p.N310fs|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.N195fs|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Intron O95260 ATE1_HUMAN arginyltransferase 1 310 AGGSPSV -> GGGFAAS (in Ref. 4; AAD12366). protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) GCTTTCGGTTGGCGTATCAGGT 0.431 15 71 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26564280 26564280 + Frame_Shift_Del DEL A A - TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr12:26564280delA ENST00000381340.3 - 52 7788 c.7372delT c.(7372-7374)cafs p.S2458fs RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2458 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ATTGTGGGTGAACAGTTCTCC 0.353 22 58 --- --- --- --- ARMC5 79798 broad.mit.edu 37 16 31473879 31473881 + In_Frame_Del DEL TAA TAA - TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr16:31473879_31473881delTAA ENST00000457010.2 + 3 1712_1714 c.1011_1013delTAA c.(1009-1014)cct>cc p.PN337del ARMC5_ENST00000268314.4_In_Frame_Del_p.PN337del|ARMC5_ENST00000538189.1_In_Frame_Del_p.PN369del|ARMC5_ENST00000563544.1_In_Frame_Del_p.PN337del|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_In_Frame_Del_p.PN432del NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 337 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GCCGGGATCCTAATGGAGCTAGC 0.660 9 69 --- --- --- ---