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 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 5 53 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78422352 78422352 + Nonsense_Mutation SNP C C T TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr1:78422352C>T ENST00000370767.1 - 17 1697 c.1610G>A c.(1609-1611)tGg>tAg p.W537* FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W558*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W537* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 537 Pro-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 ATAAGCAGCCCAAGCTGCTGA 0.458000 """F, N""" oligodendroglioma 23 5 0 0 1 0 0 MFAP1 4236 broad.mit.edu 37 15 44109449 44109449 + Missense_Mutation SNP T T C TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr15:44109449T>C ENST00000267812.3 - 2 509 c.277A>G c.(277-279)Att>Gtt p.I93V NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 93 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TCTTCACTAATACGGTTCTGT 0.398000 32 61 0 0 1 0 0 MEN1 0 broad.mit.edu 37 11 64573758 64573758 + Missense_Mutation SNP C C T TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr11:64573758C>T ENST00000337652.1 - 7 1513 c.1010G>A c.(1009-1011)cGc>cAc p.R337H MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 337 Interaction with FANCD2. DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CCGCACATTGCGGTTGCGACA 0.602000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated OREG0004014 type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 47 64 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 8 21 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71007297 71007297 + Missense_Mutation SNP C C T TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr10:71007297C>T ENST00000354624.5 + 9 1346 c.1213C>T c.(1213-1215)Cgg>Tgg p.R405W HKDC1_ENST00000395086.2_Missense_Mutation_p.R405W|HKDC1_ENST00000488706.1_3'UTR NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 405 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GAAGGTGGAACGGCTCCGGAC 0.612000 17 35 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46305256 46305256 + Silent SNP C C A TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr20:46305256C>A ENST00000359930.4 - 10 2213 c.1362G>T c.(1360-1362)gcG>gcT p.A454A SULF2_ENST00000361612.4_Silent_p.A454A|SULF2_ENST00000467815.1_Silent_p.A454A|SULF2_ENST00000484875.1_Silent_p.A454A NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 454 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 GCTGCTCACACGCCGTCTGGT 0.612000 5 5 0.0215528 0.0219376 1 1 0 CPNE6 9362 broad.mit.edu 37 14 24543956 24543956 + Silent SNP C C T rs149746359 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr14:24543956C>T ENST00000397016.2 + 8 935 c.624C>T c.(622-624)cgC>cgT p.R208R CPNE6_ENST00000216775.2_Silent_p.R208R|CPNE6_ENST00000537691.1_Silent_p.R263R O95741 CPNE6_HUMAN copine VI (neuronal) 208 C2 2. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) AGCCGTTCCGCCTGTCCCTGC 0.552000 3 25 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 9 35 0 0 1 0 0 JKAMP 51528 broad.mit.edu 37 14 59970667 59970667 + Silent SNP G G A TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr14:59970667G>A ENST00000554271.1 + 7 1381 c.855G>A c.(853-855)gtG>gtA p.V285V JKAMP_ENST00000425728.2_Silent_p.V265V|JKAMP_ENST00000356057.5_Silent_p.V279V|JKAMP_ENST00000261247.9_Silent_p.V271V|RP11-701B16.2_ENST00000554253.1_RNA Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 286 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1)|endometrium(1)|kidney(1)|lung(3) 6 TTTCCAGAGTGGATAAACTTG 0.398000 24 32 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q 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 4 46 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40572233 40572233 + Silent SNP T T C TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chrX:40572233T>C ENST00000324817.1 - 6 832 c.714A>G c.(712-714)ggA>ggG p.G238G NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 238 Interaction with STAT2. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGGGTCATCTCCCATCACAG 0.383000 15 6 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr8:102213947A>T ENST00000520347.1 - 2 2979 c.23T>A c.(22-24)aTt>aAt p.I8N ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N Q9Y5V0 ZN706_HUMAN zinc finger protein 706 8 intracellular zinc ion binding large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393000 10 27 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 51 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127255106 127255106 + Missense_Mutation SNP C C T TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr7:127255106C>T ENST00000341640.2 - 2 369 c.164G>A c.(163-165)cGc>cAc p.R55H PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000338516.3_Missense_Mutation_p.R63H|PAX4_ENST00000463946.1_Missense_Mutation_p.R53H NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 63 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GACACCTGTGCGGTAGTAACG 0.572000 44 42 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 8 61 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33293788 33293788 + Missense_Mutation SNP G G A rs140237441 byFrequency TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr14:33293788G>A ENST00000280979.4 + 13 6939 c.6769G>A c.(6769-6771)Gga>Aga p.G2257R AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2257 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.G2257R(1) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGAAAGTTCCGGAAAACCAGG 0.438000 27 35 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62200696 62200696 + Missense_Mutation SNP T T C TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr20:62200696T>C ENST00000467148.1 - 4 962 c.893A>G c.(892-894)aAc>aGc p.N298S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CACGTGGCGGTTGCCAGTGTG 0.697000 6 8 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129853996 129853996 + Missense_Mutation SNP T T C TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr9:129853996T>C ENST00000373425.3 - 4 1852 c.1235A>G c.(1234-1236)aAc>aGc p.N412S RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.N110S NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 412 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 CTGCTTGCCGTTGTGCCATGT 0.537000 109 129 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 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 19 39 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33822854 33822854 + Missense_Mutation SNP C C G TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr15:33822854C>G ENST00000389232.4 + 4 411 c.341C>G c.(340-342)tCt>tGt p.S114C RYR3_ENST00000415757.3_Missense_Mutation_p.S114C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 114 MIR 1. 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) CTGAGGCACTCTTTCAGCGGA 0.512000 7 10 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 9 49 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52621372 52621372 + Silent SNP G G C TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr3:52621372G>C ENST00000356770.4 - 18 3026 c.3024C>G c.(3022-3024)gtC>gtG p.V1008V PBRM1_ENST00000337303.4_Silent_p.V1040V|PBRM1_ENST00000409767.1_Silent_p.V1055V|PBRM1_ENST00000296302.7_Silent_p.V1040V|PBRM1_ENST00000410007.1_Silent_p.V1015V|PBRM1_ENST00000409114.3_Silent_p.V1055V|PBRM1_ENST00000394830.3_Silent_p.V1015V|PBRM1_ENST00000409057.1_Silent_p.V1040V Q86U86 PB1_HUMAN polybromo 1 1040 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TTCTTACCTTGACAAACATGA 0.318000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 29 38 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr3:126707544T>G ENST00000251772.4 + 1 108 c.39T>G c.(37-39)ggT>ggG p.G13G PLXNA1_ENST00000393409.2_Silent_p.G36G Q9UIW2 PLXA1_HUMAN plexin A1 36 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 12 11 0 0 1 0 0 ZRSR1 7310 broad.mit.edu 37 5 112227799 112227799 + Missense_Mutation SNP A A G rs712665 by1000genomes TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr5:112227799A>G ENST00000391338.1 + 1 487 c.463A>G c.(463-465)Agt>Ggt p.S155G SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 TTTAGAAAATAGTACCACATG 0.433000 6 74 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162841556 162841556 + Splice_Site SNP C C T TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr4:162841556C>T ENST00000306100.5 - 4 845 c.409_splice c.e4+1 p.G137_splice FSTL5_ENST00000427802.2_Splice_Site_p.G136_splice|FSTL5_ENST00000379164.4_Splice_Site_p.G136_splice|FSTL5_ENST00000536695.1_Splice_Site_p.G136_splice NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 137 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTTCATTTACCTTTAAAGAAG 0.378000 20 32 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90708581 90708581 + Missense_Mutation SNP A A G TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr10:90708581A>G ENST00000458208.1 - 2 581 c.107T>C c.(106-108)aTt>aCt p.I36T ACTA2_ENST00000224784.6_Missense_Mutation_p.I36T|ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 36 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) ACGTCCCACAATGGATGGGAA 0.502000 57 55 0 0 1 0 0 HSPA5 3309 broad.mit.edu 37 9 128001229 128001229 + Silent SNP C C T TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr9:128001229C>T ENST00000324460.6 - 5 1190 c.987G>A c.(985-987)gaG>gaA p.E329E NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 329 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) CCATGTTGAGCTCTTCAAATT 0.418000 Prostate(1;0.17) 4 65 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 59 0 0 1 0 0 LSM14B 149986 broad.mit.edu 37 20 60701373 60701373 + Missense_Mutation SNP C C G TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr20:60701373C>G ENST00000253001.4 + 3 511 c.305C>G c.(304-306)tCt>tGt p.S102C LSM14B_ENST00000279068.6_Missense_Mutation_p.S102C|LSM14B_ENST00000370915.1_Missense_Mutation_p.S102C Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 102 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) TCCCTGGGTTCTGCCTCCGCC 0.657000 15 14 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 46 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 10016065 10016065 + Missense_Mutation SNP A A G TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr2:10016065A>G ENST00000263663.5 + 7 813 c.625A>G c.(625-627)Atg>Gtg p.M209V TAF1B_ENST00000396242.3_Intron NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 209 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AATCGTGAAGATGACCATGCC 0.413000 52 67 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 48 0 0 1 0 0 JKAMP 51528 broad.mit.edu 37 14 59970666 59970666 + Missense_Mutation SNP T T A TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr14:59970666T>A ENST00000554271.1 + 7 1380 c.854T>A c.(853-855)gTg>gAg p.V285E JKAMP_ENST00000425728.2_Missense_Mutation_p.V265E|JKAMP_ENST00000356057.5_Missense_Mutation_p.V279E|JKAMP_ENST00000261247.9_Missense_Mutation_p.V271E|RP11-701B16.2_ENST00000554253.1_RNA Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 286 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1)|endometrium(1)|kidney(1)|lung(3) 6 ATTTCCAGAGTGGATAAACTT 0.398000 24 32 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 67 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600879 29600879 + Missense_Mutation SNP G G A TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr13:29600879G>A ENST00000431530.3 + 1 2132 c.2074G>A c.(2074-2076)Gag>Aag p.E692K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 682 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TCCCCACGAAGAGAAGGCAGC 0.587000 16 20 0 0 1 0 0 TAGLN2 8407 broad.mit.edu 37 1 159890149 159890149 + Missense_Mutation SNP T T C TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr1:159890149T>C ENST00000368097.4 - 2 461 c.151A>G c.(151-153)Aac>Gac p.N51D TAGLN2_ENST00000368096.1_Missense_Mutation_p.N72D|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.N51D NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 51 CH. muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TTCTGGAAGTTCTCGCGTCCA 0.587000 40 4 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134071550 134071553 + Frame_Shift_Del DEL CAAA CAAA - TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr4:134071550_134071553delCAAA ENST00000264360.4 + 1 1081_1084 c.255_258delCAAA c.(253-258)tgfs p.CK85fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 85 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.C85*(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AACAAATCTGCAAACAGAGCCCCT 0.549 30 72 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589586 67589591 + In_Frame_Del DEL ATGAAT ATGAAT - rs17852841 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr5:67589586_67589591delATGAAT ENST00000521381.1 + 11 1965_1970 c.1349_1354delATGAAT c.(1348-1356)cat>c p.HEY450del PIK3R1_ENST00000336483.5_In_Frame_Del_p.HEY180del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.HEY450del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.HEY450del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.HEY450del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.HEY150del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.HEY87del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 450 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.H450_E451del(2)|p.G446_Y452>VI(1)|p.Y152N(1)|p.0?(1)|p.?(1)|p.Y452N(1)|p.Y182N(1)|p.E451_Y452del(1)|p.N453_T454insN(1)|p.E451_Y452delEY(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AAAAAATTACATGAATATAACACTCA 0.277 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 21 27 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114277279 114277280 + Frame_Shift_Ins INS - - T TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr6:114277279_114277280insT ENST00000519065.1 - 5 770_771 c.394_395insA c.(394-396)ggcfs p.G132fs HDAC2_ENST00000398283.2_Frame_Shift_Ins_p.G226fs|HDAC2_ENST00000368632.2_Frame_Shift_Ins_p.G102fs|HDAC2_ENST00000519108.1_Frame_Shift_Ins_p.G102fs Q92769 HDAC2_HUMAN histone deacetylase 2 132 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) ATTAACAGCCATATCAGTCTGT 0.356 50 64 --- --- --- --- DPY19L2P1 0 broad.mit.edu 37 7 35145789 35145793 + RNA DEL CTAAA CTAAA - rs76141590 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr7:35145789_35145793delCTAAA ENST00000436258.1 - 0 1553_1557 GTGACTATCTCTAAACTACTTAGGA 0.190 2 4 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 15 90 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494037 65494038 + In_Frame_Ins INS - - AGCAGC TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr8:65494037_65494038insAGCAGC ENST00000321870.1 + 1 1224_1225 c.690_691insAGCAGC c.(688-693)aggcag>agAGCAGCgcag p.230_231RQ>RAAQ RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 230 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 gcagcagcagcagcagcagcag 0.698 3 4 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78790207 78790208 + Frame_Shift_Ins INS - - GAATA rs55947300 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr9:78790207_78790208insGAATA ENST00000376767.3 + 14 2574_2575 c.2062_2063insGAATA c.(2062-2064)aatfs p.N688fs PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 cgaatcgaatcgaatagaatag 0.342 6 5 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 11 3 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 7 7 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 9 15 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 13 138 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42798786 42798787 + Frame_Shift_Ins INS - - A TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr19:42798786_42798787insA ENST00000572681.2 + 20 7144_7145 c.7076_7077insA c.(7075-7077)cgafs p.R2359fs CIC_ENST00000160740.3_Frame_Shift_Ins_p.R1451fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.R1453fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CTTGGGGAGCTAGAGTATGACA 0.644 """Mis, F, S""" oligodendroglioma 25 14 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299147 46299149 + In_Frame_Del DEL CCT CCT - TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr19:46299147_46299149delCCT ENST00000221538.3 - 6 2274_2276 c.2132_2134delAGG c.(2131-2136)ggc>g p.EG711del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 711 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTctcctcgccctcctcctcctc 0.557 7 64 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 8 58 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085907 11085912 + RNA DEL CACCAT CACCAT - rs76096695 by1000genomes TCGA-CS-5394-01A-01D-1468-08 TCGA-CS-5394-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e67f766-3799-4ce1-8c9c-d966d96302bf ed3dfb55-5905-4bb2-a497-276c2d8b43d2 g.chr21:11085907_11085912delCACCAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccatcaccaccatcaccactacc 0.558 2 4 --- --- --- ---