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 PLS1 5357 broad.mit.edu 37 3 142389859 142389859 + Missense_Mutation SNP G G C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr3:142389859G>C ENST00000337777.3 + 4 472 c.259G>C c.(259-261)Gat>Cat p.D87H PLS1_ENST00000497002.1_Missense_Mutation_p.D87H|PLS1_ENST00000457734.2_Missense_Mutation_p.D87H NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 87 cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 AAAAAGCAAAGATATCAGCAA 0.323000 62 59 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86073608 86073608 + Silent SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr2:86073608G>A ENST00000377332.3 - 5 849 c.741C>T c.(739-741)ggC>ggT p.G247G ST3GAL5_ENST00000393805.1_Silent_p.G219G|ST3GAL5_ENST00000393808.3_Silent_p.G224G NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 247 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 ACAGTGGTGCGCCCTCTGGAT 0.348000 37 66 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178466 140178466 + Silent SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr3:140178466C>T ENST00000458420.3 + 7 1267 c.1077C>T c.(1075-1077)gaC>gaT p.D359D RP11-68L1.2_ENST00000503357.1_RNA NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 359 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TCAAGTTTGACGGCAGGCAGG 0.577000 HNSCC(16;0.037) 8 51 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97052768 97052768 + Missense_Mutation SNP A A G TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr6:97052768A>G ENST00000326771.2 + 4 682 c.302A>G c.(301-303)aAg>aGg p.K101R FHL5_ENST00000541107.1_Missense_Mutation_p.K101R NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 101 LIM zinc-binding 2. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TGCTCCTCCAAGTGCTTCCAC 0.512000 55 64 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 42 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33635015 33635015 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr6:33635015G>A ENST00000374316.5 + 16 2721 c.1661G>A c.(1660-1662)cGc>cAc p.R554H ITPR3_ENST00000605930.1_Missense_Mutation_p.R554H Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 554 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CACATGTTCCGCCTGTGCTAC 0.642000 8 49 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229959 87229959 + Missense_Mutation SNP T T C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr8:87229959T>C ENST00000297524.3 - 3 1022 c.919A>G c.(919-921)Ata>Gta p.I307V SLC7A13_ENST00000419776.2_Missense_Mutation_p.I298V|SLC7A13_ENST00000520624.1_5'UTR NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 307 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GATTTAAATATAGAAATCAGA 0.388000 15 165 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196619149 196619149 + Silent SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr2:196619149G>A ENST00000312428.6 - 63 11776 c.11676C>T c.(11674-11676)taC>taT p.Y3892Y DNAH7_ENST00000409063.1_Silent_p.Y375Y NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3892 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATTTCCTGGCGTAGTTCTGCT 0.478000 29 33 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 5 153 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111710363 111710363 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr6:111710363G>A ENST00000435970.1 - 9 1390 c.574C>T c.(574-576)Caa>Taa p.Q192* REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q270*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q270* O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 270 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCGCCGTTGCTTTTCATCT 0.373000 DNA polymerases (catalytic subunits) 75 152 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21353502 21353502 + Missense_Mutation SNP T T G TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr12:21353502T>G ENST00000256958.2 + 9 1127 c.1031T>G c.(1030-1032)tTg>tGg p.L344W NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 344 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTTGTGCTTTTGACGTTGTTA 0.328000 45 47 0 0 1 0 0 MAMDC2 256691 broad.mit.edu 37 9 72723223 72723223 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr9:72723223G>A ENST00000377182.4 + 3 862 c.245G>A c.(244-246)cGt>cAt p.R82H MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 82 MAM 1. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 AGCTGCCTCCGTTTGGTCTAC 0.493000 9 59 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170428869 170428869 + Silent SNP C C A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr4:170428869C>A ENST00000439128.2 - 20 2464 c.1824G>T c.(1822-1824)ctG>ctT p.L608L NEK1_ENST00000511633.1_Silent_p.L592L|NEK1_ENST00000507142.1_Silent_p.L636L|NEK1_ENST00000512193.1_Silent_p.L539L|NEK1_ENST00000510533.1_Silent_p.L564L NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 608 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCTATACCTTCAGTGATTCGA 0.338000 10 32 5.16669e-11 5.43393e-11 1 1 0 CALM3 808 broad.mit.edu 37 19 47111535 47111535 + Missense_Mutation SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr19:47111535C>T ENST00000291295.9 + 3 315 c.116C>T c.(115-117)tCc>tTc p.S39F CALM3_ENST00000599839.1_Missense_Mutation_p.S3F|CALM3_ENST00000598871.1_Missense_Mutation_p.S3F|CALM3_ENST00000596362.1_Missense_Mutation_p.S39F|CALM3_ENST00000594523.1_Missense_Mutation_p.S3F|CALM3_ENST00000597743.1_Missense_Mutation_p.S39F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000391918.2_Missense_Mutation_p.S3F NM_005184.2 NP_005175.2 P62158 CALM_HUMAN calmodulin 3 (phosphorylase kinase, delta) 39 EF-hand 1. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1) 6 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) GTGATGAGATCCCTGGGACAG 0.577000 3 26 0 0 1 0 0 DBF4 10926 broad.mit.edu 37 7 87530171 87530171 + Missense_Mutation SNP A A G TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr7:87530171A>G ENST00000265728.1 + 10 1406 c.902A>G c.(901-903)cAg>cGg p.Q301R NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 301 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) TGTTGCTTGCAGAAATATGAA 0.333000 4 138 0 0 1 0 0 MRGBP 55257 broad.mit.edu 37 20 61430826 61430826 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr20:61430826G>A ENST00000370487.3 + 5 517 c.446G>A c.(445-447)aGt>aAt p.S149N NM_018270.4 NP_060740.1 MRG/MORF4L binding protein TCTTCAGGGAGTTTGGGGAAA 0.428000 42 40 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47744591 47744591 + Silent SNP A A T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr11:47744591A>T ENST00000263773.5 - 15 2754 c.2742T>A c.(2740-2742)ccT>ccA p.P914P NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 914 Pro-rich. p.P914P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 gtggtggtggaggaggaggag 0.463000 3 13 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25327992 25327992 + RNA SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr15:25327992G>A ENST00000546682.1 + 0 188 SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CGTCATCCTCGTCGAACTGAG 0.473000 6 450 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21994137 21994137 + Splice_Site SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr9:21994137C>T ENST00000579755.1 - 1 486 c.e1+1 CDKN2A_ENST00000470819.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(198)|p.?(2)|p.0(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCCTTTCCTACCTGGTCTTCT 0.602000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 15 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 120 0 0 1 0 0 SMC1A 8243 broad.mit.edu 37 X 53440219 53440219 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chrX:53440219G>A ENST00000322213.4 - 4 705 c.578C>T c.(577-579)gCg>gTg p.A193V SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 193 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 GCGTTCAGCCGCAATATTTTT 0.512000 4 102 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2817164 2817164 + Missense_Mutation SNP C C A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr16:2817164C>A ENST00000301740.8 + 11 7184 c.6635C>A c.(6634-6636)cCa>cAa p.P2212Q NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2212 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TCCCAGGTTCCAGCCCCGGTG 0.617000 4 84 0.184627 0.184627 1 1 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) 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) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 40 24 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50626681 50626681 + Missense_Mutation SNP A A T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr14:50626681A>T ENST00000216373.5 - 10 1594 c.1320T>A c.(1318-1320)aaT>aaA p.N440K SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.N407K NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 440 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TAATGAATTCATTACAACACT 0.363000 80 113 0 0 1 0 0 TPM4 7171 broad.mit.edu 37 19 16178536 16178536 + Silent SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr19:16178536C>T ENST00000538887.1 + 1 189 c.102C>T c.(100-102)gaC>gaT p.D34D TPM4_ENST00000344824.6_Silent_p.D34D P67936 TPM4_HUMAN tropomyosin 4 152 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 CCGCTGAGGACAAGTGCAAGC 0.632000 T ALK ALCL 28 43 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 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 44 62 0 0 1 0 0 COLEC10 10584 broad.mit.edu 37 8 120079533 120079533 + Missense_Mutation SNP G G T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr8:120079533G>T ENST00000332843.2 + 1 54 c.13G>T c.(13-15)Gca>Tca p.A5S COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 5 collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) GAATGGCTTTGCATCCTTGCT 0.423000 44 59 1.02591e-13 1.0979e-13 1 1 0 CIC 23152 broad.mit.edu 37 19 42791715 42791715 + Missense_Mutation SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr19:42791715C>T ENST00000572681.2 + 6 3396 c.3328C>T c.(3328-3330)Cgg>Tgg p.R1110W CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W Q96RK0 CIC_HUMAN capicua transcriptional repressor 201 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R201W(1) 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) GGACCACATCCGGCGGCCCAT 0.622000 """Mis, F, S""" oligodendroglioma 8 55 0 0 1 0 0 SKP2 6502 broad.mit.edu 37 5 36184025 36184025 + Missense_Mutation SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr5:36184025C>T ENST00000274254.5 + 10 1419 c.1145C>T c.(1144-1146)tCc>tTc p.S382F SKP2_ENST00000274255.6_3'UTR NM_032637.3 NP_116026.1 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAACTCAAGTCCAGCCATAAG 0.353000 5 81 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118080 4118080 + Silent SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr9:4118080C>T ENST00000324333.10 - 3 1126 c.933G>A c.(931-933)gcG>gcA p.A311A GLIS3_ENST00000381971.3_Silent_p.A466A NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 311 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GGTGAAGGTGCGCATGGGCAT 0.736000 4 31 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 5 23 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152770284 152770284 + Silent SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chrX:152770284C>T ENST00000331595.4 + 2 381 c.195C>T c.(193-195)ttC>ttT p.F65F BGN_ENST00000480756.1_Intron|BGN_ENST00000370204.1_Silent_p.F4F NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 65 Cys-rich. 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) TGTGTCCTTTCGGCTGCCACT 0.637000 76 4 0 0 1 0 0 EPO 2056 broad.mit.edu 37 7 100320317 100320317 + Missense_Mutation SNP G G T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr7:100320317G>T ENST00000252723.2 + 4 458 c.277G>T c.(277-279)Ggc>Tgc p.G93C NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 93 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) AGTCTGGCAGGGCCTGGCCCT 0.657000 11 33 2.27111e-07 2.3481e-07 1 1 0 TMEM70 54968 broad.mit.edu 37 8 74891077 74891077 + Missense_Mutation SNP T T G TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr8:74891077T>G ENST00000312184.5 + 2 370 c.297T>G c.(295-297)aaT>aaG p.N99K TMEM70_ENST00000517439.1_Missense_Mutation_p.N99K NM_001040613.2|NM_017866.5 NP_001035703.1|NP_060336.3 Q9BUB7 TMM70_HUMAN transmembrane protein 70 99 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) ATACTGGCAATATGGCCCGAG 0.358000 41 47 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72942140 72942140 + Missense_Mutation SNP A A G TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr8:72942140A>G ENST00000262209.4 - 24 3140 c.2933T>C c.(2932-2934)aTg>aCg p.M978T RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 978 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ACTTACCTGCATAGCTATCCT 0.388000 20 35 0 0 1 0 0 PHF5A 84844 broad.mit.edu 37 22 41863526 41863526 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr22:41863526G>A ENST00000216252.3 - 3 240 c.169C>T c.(169-171)Cgc>Tgc p.R57C PHF5A_ENST00000491254.1_5'UTR NM_032758.3 NP_116147.1 Q7RTV0 PHF5A_HUMAN PHD finger protein 5A 57 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent nuclear speck|U12-type spliceosomal complex|U2 snRNP DNA binding|sequence-specific DNA binding transcription factor activity p.R57S(1) central_nervous_system(1)|large_intestine(2)|lung(1) 4 ATCACACAGCGCCCCTGGTAA 0.507000 28 50 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624470 53624470 + Missense_Mutation SNP A A T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr13:53624470A>T ENST00000219022.2 + 5 1175 c.1097A>T c.(1096-1098)aAt>aTt p.N366I NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 366 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ACTCTCCCTAATGCTGCCTAT 0.403000 139 161 0 0 1 0 0 FZD4 8322 broad.mit.edu 37 11 86662454 86662454 + Silent SNP T T C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr11:86662454T>C ENST00000531380.1 - 2 1649 c.1344A>G c.(1342-1344)gcA>gcG p.A448A PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 448 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCACACACGTTGCAGGAACTG 0.393000 51 130 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 68 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6553002 6553002 + Silent SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr10:6553002C>T ENST00000263125.5 - 3 372 c.273G>A c.(271-273)tcG>tcA p.S91S PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S91S NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 91 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TCTCAGCCAGCGAGTAGAGCT 0.468000 5 181 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569118 179569118 + Silent SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr2:179569118C>T ENST00000589042.1 - 106 30203 c.29979G>A c.(29977-29979)cgG>cgA p.R9993R TTN_ENST00000591111.1_Silent_p.R9676R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.R8749R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9676 Glu-rich. 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) CCTGAAGATGCCGTTCCCATG 0.403000 5 242 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28380480 28380480 + Missense_Mutation SNP C C A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr17:28380480C>A ENST00000394835.3 + 10 1700 c.1508C>A c.(1507-1509)cCa>cAa p.P503Q EFCAB5_ENST00000378738.3_Missense_Mutation_p.P503Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.P160Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.P447Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P503Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P503Q NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 503 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 ACACCATCACCAAACCCGCCA 0.398000 4 80 0.014758 0.015004 1 1 0 C4BPA 722 broad.mit.edu 37 1 207307914 207307914 + Missense_Mutation SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr1:207307914C>T ENST00000367070.3 + 9 1444 c.1250C>T c.(1249-1251)cCc>cTc p.P417L NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 417 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding p.P417L(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 ACGTGGAGTCCCCGAACACCA 0.393000 19 128 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37613989 37613989 + Missense_Mutation SNP T T C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr6:37613989T>C ENST00000434837.2 - 11 3387 c.2209A>G c.(2209-2211)Atc>Gtc p.I737V MDGA1_ENST00000297153.7_Missense_Mutation_p.I740V|MDGA1_ENST00000505425.1_Missense_Mutation_p.I737V NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 737 Fibronectin type-III. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GTGTAGTGGATGATGCGGGAG 0.592000 10 10 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46656880 46656880 + Missense_Mutation SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr6:46656880C>T ENST00000544460.1 + 1 1269 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C TDRD6_ENST00000316081.6_Missense_Mutation_p.R339C NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 339 Tudor 2. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TCGGCCCCAGCGCTGTGCCCA 0.557000 33 53 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75687040 75687040 + Missense_Mutation SNP A A G TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr15:75687040A>G ENST00000394947.3 - 14 2572 c.2258T>C c.(2257-2259)aTt>aCt p.I753T SIN3A_ENST00000360439.4_Missense_Mutation_p.I753T|SIN3A_ENST00000394949.4_Missense_Mutation_p.I753T NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 753 Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 GATACTCTCAATCTCATTGAG 0.418000 63 155 0 0 1 0 0 SAMD8 142891 broad.mit.edu 37 10 76928352 76928352 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr10:76928352G>A ENST00000542569.1 + 4 831 c.728G>A c.(727-729)cGc>cAc p.R243H SAMD8_ENST00000372687.3_Missense_Mutation_p.R243H|SAMD8_ENST00000372690.3_Missense_Mutation_p.R306H NM_001174156.1|NM_144660.2 NP_001167627.1|NP_653261.1 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 243 sphingomyelin biosynthetic process integral to membrane NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 12 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TTCTTGCTTCGCTGCTTTACC 0.453000 5 208 0 0 1 0 0 PARD6B 84612 broad.mit.edu 37 20 49354410 49354410 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr20:49354410G>A ENST00000371610.2 + 2 326 c.83G>A c.(82-84)cGt>cAt p.R28H PARD6B_ENST00000396039.1_Missense_Mutation_p.R28H NM_032521.2 NP_115910.1 Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta 28 OPR. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 GCTGAATTTCGTCGGTTTTCG 0.323000 27 59 0 0 1 0 0 OCIAD1 54940 broad.mit.edu 37 4 48835438 48835438 + Missense_Mutation SNP C C T TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr4:48835438C>T ENST00000425583.2 + 3 354 c.79C>T c.(79-81)Cca>Tca p.P27S OCIAD1_ENST00000444354.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P27S|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000381473.3_Missense_Mutation_p.P27S|OCIAD1_ENST00000396448.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P27S NM_001079842.2 NP_001073311.2 Q9NX40 OCAD1_HUMAN OCIA domain containing 1 27 OCIA. endosome protein binding breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 9 TGATTACATTCCAACAGAGGA 0.318000 23 48 0 0 1 0 0 KCNAB3 9196 broad.mit.edu 37 17 7826851 7826851 + Missense_Mutation SNP G G A TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr17:7826851G>A ENST00000303790.2 - 13 1059 c.1060C>T c.(1060-1062)Cgc>Tgc p.R354C NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 354 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) CCCTCACTGCGGAGACACCAC 0.577000 3 14 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000402939.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 7 71 --- --- --- --- RP11-571L19.7 0 broad.mit.edu 37 4 99877753 99877753 + RNA DEL A A - rs33952764 TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr4:99877753delA ENST00000583654.1 + 0 237 actctgtctcaaaaaaaaaaa 0.448 3 4 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95414786 95414787 + RNA INS - - TAAAA rs80243332 by1000genomes TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr5:95414786_95414787insTAAAA ENST00000507997.1 + 0 87 CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA acccatgcacttaaagttaaaa 0.361 4 4 --- --- --- --- SOX4 6659 broad.mit.edu 37 6 21595634 21595636 + In_Frame_Del DEL AGA AGA - TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr6:21595634_21595636delAGA ENST00000244745.1 + 1 1663_1665 c.869_871delAGA c.(868-873)gag>g p.EK290del SOX4_ENST00000543472.1_In_Frame_Del_p.EK290del NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 290 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) CACCTGGCGGAGAAGAAGGTGAA 0.754 7 18 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr7:44805118_44805119insC ENST00000309315.4 + 16 2305_2306 c.2182_2183insC c.(2182-2184)cccfs p.P728fs ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 728 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCCGGCGCTGCCCCCTTTGCC 0.698 6 12 --- --- --- --- RP11-33N16.3 0 broad.mit.edu 37 14 90203658 90203660 + RNA DEL CTC CTC - rs10140344 TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr14:90203658_90203660delCTC ENST00000555070.1 - 0 170 TATTTCTTTTCTCTTTCTTTCtt 0.355 5 6 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-TQ-A7RU-01A-21D-A34A-08 TCGA-TQ-A7RU-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11b5c6b-3b67-49a5-a19d-36f07639b10e 6214b399-4b6a-4834-aa21-779e23a4f457 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 8 229 --- --- --- ---