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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 30 0 0 1 0 0 CTU2 348180 broad.mit.edu 37 16 88779765 88779765 + Missense_Mutation SNP G G T TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr16:88779765G>T ENST00000567949.1 + 8 1005 c.996G>T c.(994-996)aaG>aaT p.K332N CTU2_ENST00000453996.2_Missense_Mutation_p.K261N|CTU2_ENST00000312060.5_Missense_Mutation_p.K261N|CTU2_ENST00000378384.3_Missense_Mutation_p.K174N Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) 261 V -> I (in dbSNP:rs4782321). tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GCTACTCCAAGGTCATGACTG 0.657000 5 115 0.248553 0.256838 1 1 0 ITPR3 3710 broad.mit.edu 37 6 33632679 33632679 + Missense_Mutation SNP C C A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr6:33632679C>A ENST00000374316.5 + 13 2241 c.1181C>A c.(1180-1182)aCc>aAc p.T394N ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 394 MIR 5. 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 p.T394N(4) 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 CACCTCTGCACCAACACGTGG 0.662000 4 54 0.184627 0.19736 1 1 0 RSPH3 83861 broad.mit.edu 37 6 159403544 159403544 + Silent SNP C C T TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr6:159403544C>T ENST00000367069.2 - 5 1305 c.669G>A c.(667-669)gaG>gaA p.E223E RSPH3_ENST00000449822.1_Silent_p.E127E|RSPH3_ENST00000297262.3_Silent_p.E269E|RSPH3_ENST00000252655.1_Silent_p.E365E Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 365 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) GCCTCTCTTGCTCTTCAAGTC 0.398000 5 28 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74068495 74068495 + Silent SNP A A C TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr17:74068495A>C ENST00000307877.2 - 1 239 c.78T>G c.(76-78)ggT>ggG p.G26G SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_Silent_p.G26G NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 26 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 caccgccgctaccgccgccgc 0.657000 3 4 0 0 1 0 0 PRPS1 5631 broad.mit.edu 37 X 106890921 106890921 + Missense_Mutation SNP G G A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chrX:106890921G>A ENST00000372435.4 + 6 912 c.790G>A c.(790-792)Gca>Aca p.A264T PRPS1_ENST00000372418.1_Missense_Mutation_p.A164T|PRPS1_ENST00000372428.4_Missense_Mutation_p.A197T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A264T NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 264 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 CATCAACAACGCATGCTTTGA 0.453000 10 109 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196674805 196674805 + Silent SNP G G A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr3:196674805G>A ENST00000412723.1 - 3 1109 c.963C>T c.(961-963)aaC>aaT p.N321N NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 321 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GCAGGAAGCCGTTGACTGCCA 0.617000 4 185 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 62 0 0 1 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833429 27833429 + Silent SNP C C A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr6:27833429C>A ENST00000357320.2 + 1 396 c.297C>A c.(295-297)ggC>ggA p.G99G NM_003511.2 NP_003502.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 99 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2) 9 AGCTGCTGGGCAAAGTAACCA 0.592000 5 194 8.12818e-05 9.33236e-05 1 1 0 FAM129A 116496 broad.mit.edu 37 1 184863335 184863335 + Silent SNP T T C TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr1:184863335T>C ENST00000367511.3 - 3 385 c.192A>G c.(190-192)ccA>ccG p.P64P NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 64 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 CAGGCGCCAATGGTGGCTTAA 0.343000 5 54 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137057 40137057 + Silent SNP G G C TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr11:40137057G>C ENST00000278198.2 - 2 2749 c.786C>G c.(784-786)gcC>gcG p.A262A LRRC4C_ENST00000530763.1_Silent_p.A262A|LRRC4C_ENST00000528697.1_Silent_p.A262A|LRRC4C_ENST00000527150.1_Silent_p.A262A Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 262 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GGTTGTCAAAGGCATTCCGTT 0.453000 7 104 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141051740 141051740 + Missense_Mutation SNP G G A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr5:141051740G>A ENST00000239440.4 - 10 1579 c.1514C>T c.(1513-1515)gCg>gTg p.A505V ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 505 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCCACAGTCCGCACACTGCCG 0.612000 5 332 0 0 1 0 0 FGF4 2249 broad.mit.edu 37 11 69588192 69588192 + Missense_Mutation SNP T T G TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr11:69588192T>G ENST00000168712.1 - 3 824 c.506A>C c.(505-507)tAc>tCc p.Y169S FGF4_ENST00000538040.1_5'UTR NM_002007.2 NP_001998.1 P08620 FGF4_HUMAN fibroblast growth factor 4 169 cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade extracellular region growth factor activity|heparin binding lung(3) 3 Melanoma(5;1.89e-05) LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278) Pentosan Polysulfate(DB00686) GTAGGACTCGTAGGCGTTGTA 0.567000 15 174 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G 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 ggaatggaatcgaatcgaatc 0.373000 3 5 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41065560 41065560 + Silent SNP C C T TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr5:41065560C>T ENST00000399564.4 - 4 684 c.234G>A c.(232-234)gaG>gaA p.E78E NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ACACCAAAACCTCACCAGCTA 0.413000 3 44 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 74 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11835360 11835360 + Silent SNP G G A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr17:11835360G>A ENST00000262442.3 + 64 12203 c.12135G>A c.(12133-12135)acG>acA p.T4045T DNAH9_ENST00000396001.2_Silent_p.T357T|DNAH9_ENST00000454412.2_Silent_p.T3969T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4045 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCGGGAGACGGAGTTTAAGA 0.493000 6 332 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26961608 26961608 + Silent SNP A A G TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr17:26961608A>G ENST00000528896.2 - 16 3071 c.2997T>C c.(2995-2997)ccT>ccC p.P999P KIAA0100_ENST00000389003.3_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.P856P NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 999 extracellular region p.P999P(1) breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAGGGGGAAAAGGGCTGCCTG 0.493000 4 150 0 0 1 0 0 CCDC22 28952 broad.mit.edu 37 X 49093732 49093732 + Splice_Site SNP T T G TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chrX:49093732T>G ENST00000376227.3 + 2 398 c.e2+2 CCDC22_ENST00000496651.1_Splice_Site NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 GCCTGCATGGTGAGTGGCCCT 0.562000 5 88 0 0 1 0 0 CCDC173 129881 broad.mit.edu 37 2 170518798 170518798 + Silent SNP G G T TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr2:170518798G>T ENST00000447353.1 - 5 916 c.811C>A c.(811-813)Cgg>Agg p.R271R NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 ACAAGAAACCGTCTCCTGCTT 0.313000 5 145 0.0293803 0.0325282 1 1 0 IDH2 3418 broad.mit.edu 37 15 90631839 90631839 + Missense_Mutation SNP T T A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr15:90631839T>A ENST00000330062.3 - 4 627 c.514A>T c.(514-516)Agg>Tgg p.R172W IDH2_ENST00000540499.2_Missense_Mutation_p.R120W|IDH2_ENST00000539790.1_Missense_Mutation_p.R42W|IDH2_ENST00000559482.1_Intron NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172W(12)|p.R172G(2) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) TGGGCGTGCCTGCCAATGGTG 0.627000 M GBM 8 80 0 0 1 0 0 NHEJ1 79840 broad.mit.edu 37 2 220012390 220012390 + Missense_Mutation SNP G G A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr2:220012390G>A ENST00000356853.5 - 4 651 c.518C>T c.(517-519)aCg>aTg p.T173M NHEJ1_ENST00000409720.1_Missense_Mutation_p.T173M NM_024782.2 NP_079058.1 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 173 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 12 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) TCGAATCAGCGTAGCCCCACT 0.478000 Non-homologous end-joining 4 54 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14845980 14845980 + Missense_Mutation SNP C C A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr9:14845980C>A ENST00000380881.4 - 9 2189 c.1374G>T c.(1372-1374)caG>caT p.Q458H FREM1_ENST00000380880.3_Missense_Mutation_p.Q457H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q457H Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 457 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GCCATCCATGCTGCAGGCCAC 0.443000 3 27 1 1 1 1 0 GAB2 9846 broad.mit.edu 37 11 77934697 77934697 + Missense_Mutation SNP G G A TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr11:77934697G>A ENST00000361507.4 - 6 1413 c.1328C>T c.(1327-1329)tCg>tTg p.S443L GAB2_ENST00000340149.2_Missense_Mutation_p.S405L NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 443 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GGTGCTGTCCGATCGGCCCAC 0.478000 6 316 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 68 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237954771 237954771 + Frame_Shift_Del DEL T T - TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr1:237954771delT ENST00000366574.2 + 93 13836 c.13519delT c.(13519-13521)tafs p.L4507fs RYR2_ENST00000542537.1_Frame_Shift_Del_p.L4491fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.L4513fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4507 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATGTTAGCCTTATTTGTCGC 0.343 2 4 --- --- --- --- RP11-119F19.2 0 broad.mit.edu 37 10 81444708 81444708 + RNA DEL G G - TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr10:81444708delG ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA AGCAGTGCAAGGTCCACGTGC 0.577 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-FG-8189-01B-11D-A289-08 TCGA-FG-8189-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec88520-3464-4c47-afcc-36130f51125e 13bc5e25-1a60-4107-b129-99b0995a6897 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 347 --- --- --- ---