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 PALM 5064 broad.mit.edu 37 19 746735 746735 + Missense_Mutation SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr19:746735C>T ENST00000264560.7 + 8 1147 c.953C>T c.(952-954)gCg>gTg p.A318V PALM_ENST00000338448.5_Missense_Mutation_p.A362V|PALM_ENST00000606643.1_3'UTR NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 362 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) GAGAATCAGGCGGGGCCCGAG 0.672000 13 10 0 0 1 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316759 39316759 + Missense_Mutation SNP T T C TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr17:39316759T>C ENST00000390661.3 - 1 224 c.185A>G c.(184-186)cAc>cGc p.H62R NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 62 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGTGGCAGCAGGT 0.662000 6 210 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12901386 12901386 + Silent SNP G G A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr11:12901386G>A ENST00000361905.4 + 6 1082 c.417G>A c.(415-417)ccG>ccA p.P139P TEAD1_ENST00000527636.1_Silent_p.P154P|TEAD1_ENST00000527575.1_Silent_p.P154P|TEAD1_ENST00000361985.2_Silent_p.P154P|TEAD1_ENST00000334310.6_Silent_p.P143P|TEAD1_ENST00000526600.1_Silent_p.P58P NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 154 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.P139P(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CAGGGGCGCCGGGGGTAAGTC 0.597000 48 73 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142136035 142136035 + Silent SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr3:142136035C>T ENST00000264951.4 - 13 1500 c.1383G>A c.(1381-1383)caG>caA p.Q461Q XRN1_ENST00000392981.2_Silent_p.Q461Q NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 461 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 ACTGTATTGCCTGAACATAAC 0.348000 26 46 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32211066 32211066 + Missense_Mutation SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr22:32211066C>T ENST00000400246.1 + 21 1676 c.1534C>T c.(1534-1536)Ccc>Tcc p.P512S DEPDC5_ENST00000400242.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P512S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P512S|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000536766.1_Missense_Mutation_p.P484S O75140 DEPD5_HUMAN DEP domain containing 5 512 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCGCACACTGCCCACTGAGGA 0.572000 4 159 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588190 72588190 + Missense_Mutation SNP A A T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr17:72588190A>T ENST00000392620.1 + 3 367 c.5A>T c.(4-6)gAt>gTt p.D2V C17orf77_ENST00000328023.2_Missense_Mutation_p.D2V|CD300LD_ENST00000375352.1_Intron NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 2 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 GCATGGATGGATGAATTGGCG 0.438000 45 124 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78429937 78429937 + Splice_Site SNP A A C TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr1:78429937A>C ENST00000370767.1 - 11 1028 c.e11+1 FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 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 ATATGTACTCACCTGGCTTAA 0.333000 """F, N""" oligodendroglioma 18 13 0 0 1 0 0 IGLC3 0 broad.mit.edu 37 22 23248710 23248710 + RNA SNP C C T rs8307 TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr22:23248710C>T ENST00000390325.2 + 0 199 AACAAGTACGCGGCCAGCAGC 0.607000 40 60 0 0 1 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516117 138516117 + Silent SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr9:138516117C>T ENST00000371763.1 - 5 910 c.657G>A c.(655-657)ccG>ccA p.P219P NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 219 P -> S (in dbSNP:rs17040344). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups p.P219P(1) endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) CCTGTCCAAACGGGATGCAAG 0.493000 45 82 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54777673 54777673 + Missense_Mutation SNP A A G TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chrX:54777673A>G ENST00000218436.6 - 12 3522 c.3493T>C c.(3493-3495)Tct>Cct p.S1165P NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1165 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CCTCGCAAAGATATAGAACTG 0.592000 36 42 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34053835 34053835 + Missense_Mutation SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr21:34053835C>T ENST00000382499.2 - 11 1440 c.1441G>A c.(1441-1443)Gga>Aga p.G481R SYNJ1_ENST00000357345.3_Missense_Mutation_p.G442R|SYNJ1_ENST00000322229.7_Missense_Mutation_p.G442R|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G442R|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G481R NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 442 inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GCTCCAGTTCCTGCATATATC 0.393000 6 129 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74825020 74825020 + Missense_Mutation SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr14:74825020C>T ENST00000256362.4 + 2 1775 c.1534C>T c.(1534-1536)Cgc>Tgc p.R512C NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 512 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GAGGCGTCTGCGCAGGGCTGC 0.677000 66 79 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 167956741 167956741 + Silent SNP T T C TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr1:167956741T>C ENST00000367840.3 + 5 541 c.447T>C c.(445-447)acT>acC p.T149T DCAF6_ENST00000312263.6_Silent_p.T149T|DCAF6_ENST00000432587.2_Silent_p.T118T|DCAF6_ENST00000367843.3_Silent_p.T149T|DCAF6_ENST00000470919.1_3'UTR NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 149 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 AGATTATGACTGTACCCAATG 0.358000 7 36 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73570548 73570548 + Missense_Mutation SNP A A G TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr17:73570548A>G ENST00000392550.3 + 24 3085 c.2968A>G c.(2968-2970)Atc>Gtc p.I990V LLGL2_ENST00000167462.5_Intron|LLGL2_ENST00000577200.1_Missense_Mutation_p.I990V NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 990 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCTGAAGGAAATCCAGAGCAC 0.697000 4 6 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr6:29977358T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 3 55 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132198210 132198210 + Missense_Mutation SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr6:132198210C>T ENST00000360971.2 + 18 1822 c.1802C>T c.(1801-1803)aCg>aTg p.T601M NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 601 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCTGTTTATACGCCAAAGCAT 0.448000 15 14 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100367314 100367314 + Missense_Mutation SNP C C G TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr14:100367314C>G ENST00000262233.6 + 9 1085 c.946C>G c.(946-948)Ctc>Gtc p.L316V EML1_ENST00000334192.4_Missense_Mutation_p.L335V|EML1_ENST00000327921.9_Missense_Mutation_p.L304V NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 316 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) ATTGAATACTCTCCACGTCAT 0.433000 40 64 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 23 34 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189855755 189855755 + Missense_Mutation SNP A A G TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr2:189855755A>G ENST00000304636.3 + 11 994 c.824A>G c.(823-825)aAg>aGg p.K275R COL3A1_ENST00000317840.5_Missense_Mutation_p.K275R NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 275 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AATGGAGAAAAGGGTGAAACA 0.284000 4 142 0 0 1 0 0 TRBV6-8 0 broad.mit.edu 37 7 142124388 142124388 + RNA SNP G G C TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr7:142124388G>C ENST00000390376.2 - 0 89 TCTTCAGGATGTGGAATTTTG 0.522000 4 123 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121186388 121186388 + Silent SNP T T A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr3:121186388T>A ENST00000264233.5 - 24 7073 c.6945A>T c.(6943-6945)cgA>cgT p.R2315R NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2315 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CAAAGGCATGTCGCATGCTAA 0.443000 DNA polymerases (catalytic subunits) 15 20 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 23 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128739562 128739562 + Missense_Mutation SNP G G A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr4:128739562G>A ENST00000296464.3 + 13 2072 c.1661G>A c.(1660-1662)gGa>gAa p.G554E HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000505726.1_Missense_Mutation_p.G528E|HSPA4L_ENST00000508776.1_Missense_Mutation_p.G554E|HSPA4L_ENST00000439123.2_Missense_Mutation_p.G585E NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 554 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GATCATACAGGAGCCAAAACA 0.313000 28 41 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 4 41 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41165879 41165879 + Missense_Mutation SNP G G A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr6:41165879G>A ENST00000483722.1 - 2 529 c.344C>T c.(343-345)cCc>cTc p.P115L NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 115 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCCATCAAGGGGTACAGGAT 0.612000 6 51 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39412064 39412064 + Missense_Mutation SNP G G A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr17:39412064G>A ENST00000394008.1 + 1 429 c.427G>A c.(427-429)Gcc>Acc p.A143T NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 143 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CTGCCGCCCCGCCTGCTGTGA 0.612000 7 413 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153595807 153595807 + Missense_Mutation SNP G G A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chrX:153595807G>A ENST00000422373.1 - 5 1074 c.826C>T c.(826-828)Cgg>Tgg p.R276W FLNA_ENST00000344736.4_Missense_Mutation_p.R276W|FLNA_ENST00000360319.4_Missense_Mutation_p.R276W|FLNA_ENST00000369850.3_Missense_Mutation_p.R276W NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 276 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGTTTGGGCCGCAAGGGAGCC 0.632000 4 123 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 5 195 8.12818e-05 8.32643e-05 1 1 0 AJ271736.10 0 broad.mit.edu 37 X 155255024 155255024 + RNA SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chrX:155255024C>T ENST00000285718.7 + 0 1329 WASH6P_ENST00000461007.1_RNA AGGACGAGGACGACTGGGAAT 0.647000 6 23 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285526 223285526 + Missense_Mutation SNP G G A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr1:223285526G>A ENST00000540964.1 - 4 1309 c.848C>T c.(847-849)gCt>gTt p.A283V TLR5_ENST00000342210.6_Missense_Mutation_p.A283V O60602 TLR5_HUMAN toll-like receptor 5 283 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GGCCAGGCCAGCAAATGTGTT 0.483000 4 93 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414126 20414126 + Translation_Start_Site SNP T T C TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr9:20414126T>C ENST00000355930.6 - 0 976 MLLT3_ENST00000429426.2_Missense_Mutation_p.K237E|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000380338.4_Missense_Mutation_p.K240E P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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) TTCAGTGGTTTATTTTCTTTG 0.388000 T MLL ALL 96 134 0 0 1 0 0 KRTAP19-1 337882 broad.mit.edu 37 21 31852407 31852407 + Missense_Mutation SNP C C T TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr21:31852407C>T ENST00000390689.2 - 1 256 c.230G>A c.(229-231)cGc>cAc p.R77H NM_181607.1 NP_853638.1 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 77 26 X 2 AA repeats of G-[YCGS]. intermediate filament p.R77H(1) cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GTACGATGGGCGGCAGCAGCC 0.488000 16 428 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8872066 8872066 + Missense_Mutation SNP T T C TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr2:8872066T>C ENST00000256707.3 - 30 4281 c.4100A>G c.(4099-4101)gAt>gGt p.D1367G KIDINS220_ENST00000473731.1_Missense_Mutation_p.D1348G|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D1348G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D1268G NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1367 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AATACTGGAATCCTGGGAATT 0.388000 43 62 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41738833 41738833 + Nonsense_Mutation SNP G G A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr6:41738833G>A ENST00000373018.3 - 7 1254 c.1003C>T c.(1003-1005)Caa>Taa p.Q335* FRS3_ENST00000259748.2_Nonsense_Mutation_p.Q335* NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 335 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGCTGGGCTTGGCTTTCCCAC 0.662000 4 86 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42799051 42799051 + Missense_Mutation SNP G G A TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr19:42799051G>A ENST00000572681.2 + 21 7321 c.7253G>A c.(7252-7254)cGt>cAt p.R2418H CIC_ENST00000575354.2_Missense_Mutation_p.R1512H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H Q96RK0 CIC_HUMAN capicua transcriptional repressor 1512 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) TTGAAGATCCGTGAGGTGCGC 0.627000 """Mis, F, S""" oligodendroglioma 53 24 0 0 1 0 0 PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 4 8 --- --- --- --- RP11-1166P10.8 0 broad.mit.edu 37 16 32128059 32128061 + RNA DEL AAT AAT - rs144687691 by1000genomes TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr16:32128059_32128061delAAT ENST00000564145.1 - 0 456 GATGGGAGAGAATAAGGAGGGCG 0.724 3 5 --- --- --- --- LRRC30 339291 broad.mit.edu 37 18 7231991 7231991 + Frame_Shift_Del DEL G G - TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chr18:7231991delG ENST00000383467.2 + 1 869 c.855delG c.(853-855)gafs p.E285fs NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 285 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 AGCTGGTGGAGGGGGGCCTGG 0.582 7 402 --- --- --- --- RGAG4 340526 broad.mit.edu 37 X 71351107 71351107 + Frame_Shift_Del DEL T T - TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb1dc195-0b41-4ff7-8364-7fdcb4a96521 62bd6123-d070-4bde-af89-8177daee0949 g.chrX:71351107delT ENST00000545866.1 - 1 651 c.284delA c.(283-285)ggfs p.E95fs NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Frame_Shift_Del_p.E95fs Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 95 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) ACAGTCGGGCTCCGCGCGTGG 0.647 28 25 --- --- --- ---