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 TPTE2P6 0 broad.mit.edu 37 13 25144710 25144710 + RNA SNP A A G rs71218558 by1000genomes TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr13:25144710A>G ENST00000453498.1 + 0 251 GATGTGTTTAACACAGCCCCT 0.398000 5 36 0 0 0.001168 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 57 0 0 0.000248 0 0 COL6A2 0 broad.mit.edu 37 21 47538972 47538972 + Missense_Mutation SNP G G A TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr21:47538972G>A ENST00000300527.4 + 14 1312 c.1208G>A c.(1207-1209)gGa>gAa p.G403E COL6A2_ENST00000397763.1_Missense_Mutation_p.G403E|COL6A2_ENST00000310645.5_Missense_Mutation_p.G403E|COL6A2_ENST00000409416.1_Missense_Mutation_p.G403E|COL6A2_ENST00000357838.4_Missense_Mutation_p.G403E NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 403 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGAGCCCCAGGAAGTCCTGGT 0.677000 10 17 0 0 0.001855 0 0 VIM 7431 broad.mit.edu 37 10 17277352 17277352 + Missense_Mutation SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr10:17277352C>T ENST00000544301.1 + 7 1606 c.1193C>T c.(1192-1194)gCc>gTc p.A398V VIM_ENST00000224237.5_Missense_Mutation_p.A398V NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 398 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATTGAGATTGCCACCTACAGG 0.502000 4 124 0 0 0.000602 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110396357 110396357 + Splice_Site SNP G G A TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr8:110396357G>A ENST00000378402.5 + 5 579 c.e5+1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAACTCCAGGTCTGTTATAT 0.279000 HNSCC(38;0.096) 8 171 0 0 0.006214 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 3 50 0 0 0.000248 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 34 53 0 0 0.003755 0 0 MIR1275 0 broad.mit.edu 37 6 33967792 33967792 + RNA SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr6:33967792C>T ENST00000408770.1 - 0 36 NR_031681.1 CTTACAGACACAAGACAGCCT 0.522000 24 42 0 0 0.005443 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 228 0 0 0.000248 0 0 MPDZ 8777 broad.mit.edu 37 9 13217196 13217196 + Missense_Mutation SNP A A G TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr9:13217196A>G ENST00000319217.7 - 9 1431 c.1184T>C c.(1183-1185)aTt>aCt p.I395T MPDZ_ENST00000381015.4_Missense_Mutation_p.I395T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I395T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I395T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I395T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I395T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I395T NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 395 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TTTATCTCCAATGTAGCCAGC 0.303000 15 17 0 0 0.004007 0 0 SLC19A2 10560 broad.mit.edu 37 1 169437896 169437896 + Silent SNP G G A TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr1:169437896G>A ENST00000236137.5 - 4 1445 c.1209C>T c.(1207-1209)ctC>ctT p.L403L SLC19A2_ENST00000367802.3_Silent_p.L365L|SLC19A2_ENST00000367804.3_Silent_p.L202L NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 403 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) CTATCGTGATGAGTAACATGT 0.368000 4 84 0 0 0.000248 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805072 44805072 + Silent SNP C C G TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr7:44805072C>G ENST00000309315.4 + 16 2259 c.2136C>G c.(2134-2136)ctC>ctG p.L712L ZMIZ2_ENST00000433667.1_Silent_p.L680L|ZMIZ2_ENST00000441627.1_Silent_p.L712L|ZMIZ2_ENST00000413916.1_Silent_p.L654L|ZMIZ2_ENST00000265346.7_Silent_p.L686L NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 712 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCACGTGCTCATGCCCAGCG 0.701000 13 23 0 0 0.003163 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33944900 33944900 + Missense_Mutation SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr1:33944900C>T ENST00000361328.3 + 2 164 c.11C>T c.(10-12)gCc>gTc p.A4V ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A4V|ZSCAN20_ENST00000480917.1_3'UTR NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 4 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ATGGCTATGGCCCTGGAATTG 0.512000 38 56 0 0 0.006230 0 0 PABPC3 5042 broad.mit.edu 37 13 25670442 25670442 + Missense_Mutation SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr13:25670442C>T ENST00000281589.3 + 1 143 c.106C>T c.(106-108)Ccc>Tcc p.P36S NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 36 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CCCGGCAGGGCCCATCCTCTC 0.627000 30 45 0 0 0.002445 0 0 HIGD1A 25994 broad.mit.edu 37 3 42845665 42845665 + Splice_Site SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr3:42845665C>T ENST00000452906.2 - 1 260 c.20_splice c.e1+1 p.E7_splice HIGD1A_ENST00000418900.2_Intron|HIGD1A_ENST00000430190.1_Intron|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000321331.7_Intron NM_001099668.1 NP_001093138.1 Q9Y241 HIG1A_HUMAN HIG1 hypoxia inducible domain family, member 1A 0 HIG1. response to stress integral to membrane|protein complex protein binding lung(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.217) GCAACTCACTCCACAAGCTTC 0.672000 46 109 0 0 0.003610 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 3 4 0 0 0.000248 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129920497 129920497 + Missense_Mutation SNP G G A TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr6:129920497G>A ENST00000368149.2 - 12 1665 c.1577C>T c.(1576-1578)cCc>cTc p.P526L NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 526 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) AATAAACTTGGGAATCTATAG 0.294000 12 36 0 0 0.001368 0 0 C11orf63 79864 broad.mit.edu 37 11 122805462 122805462 + Missense_Mutation SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr11:122805462C>T ENST00000227349.2 + 5 1610 c.1313C>T c.(1312-1314)aCc>aTc p.T438I C11orf63_ENST00000531316.1_Missense_Mutation_p.T438I NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 438 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CTCAAAGAAACCTCCAATACA 0.398000 30 40 0 0 0.003271 0 0 FFAR4 338557 broad.mit.edu 37 10 95347003 95347003 + Silent SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr10:95347003C>T ENST00000371483.4 + 4 827 c.771C>T c.(769-771)ctC>ctT p.L257L FFAR4_ENST00000371481.4_Silent_p.L241L|FFAR4_ENST00000604414.1_Intron NM_181745.3 NP_859529.2 free fatty acid receptor 4 GGAAGAGGCTCACGGTAAGCC 0.567000 4 68 0 0 0.000248 0 0 CLCA1 1179 broad.mit.edu 37 1 86959123 86959123 + Silent SNP C C T TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr1:86959123C>T ENST00000234701.3 + 11 1872 c.1521C>T c.(1519-1521)atC>atT p.I507I CLCA1_ENST00000394711.1_Silent_p.I507I A8K7I4 CLCA1_HUMAN chloride channel accessory 1 507 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCACAGTGATCGTGGACAGCA 0.493000 8 86 0 0 0.003080 0 0 EOMES 8320 broad.mit.edu 37 3 27763406 27763408 + In_Frame_Del DEL GCG GCG - TCGA-ET-A25G-01A-11D-A16O-08 TCGA-ET-A25G-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c 41324b55-de97-4320-b264-4073c08443e1 g.chr3:27763406_27763408delGCG ENST00000295743.4 - 1 581_583 c.378_380delCGC c.(376-381)gcg>gc p.AA128del EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.AA128del O95936 EOMES_HUMAN eomesodermin 128 Ala-rich. CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 ggccgcagccgcggcggcggcgg 0.778 2 4 --- --- --- ---