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 PSMA4 5685 broad.mit.edu 37 15 78837982 78837982 + Missense_Mutation SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr15:78837982G>A ENST00000044462.7 + 7 533 c.383G>A c.(382-384)cGt>cAt p.R128H PSMA4_ENST00000558094.1_Missense_Mutation_p.R40H|PSMA4_ENST00000560217.1_Missense_Mutation_p.R97H|PSMA4_ENST00000559082.1_Missense_Mutation_p.R128H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.R57H|PSMA4_ENST00000558281.1_Missense_Mutation_p.R128H NM_002789.4 NP_002780.1 P25789 PSA4_HUMAN proteasome (prosome, macropain) subunit, alpha type, 4 128 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 AAAGGAAAACGTCCCTTTGGT 0.408000 46 62 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232275 35232275 + Missense_Mutation SNP T T C TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr19:35232275T>C ENST00000392232.3 + 6 1289 c.1121T>C c.(1120-1122)tTt>tCt p.F374S ZNF181_ENST00000459757.1_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S Q2M3W8 ZN181_HUMAN zinc finger protein 181 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F266S(1) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GGAAAGTCTTTTAGTCGTGTG 0.398000 4 76 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522570 32522570 + RNA SNP G G A rs35923382 by1000genomes TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr6:32522570G>A ENST00000411500.1 - 0 636 NR_001298.1 GGGTCTGGAAGGTCCAATCTC 0.532000 6 33 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39551564 39551564 + Missense_Mutation SNP G G A rs147688319 TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr17:39551564G>A ENST00000251645.2 - 5 861 c.809C>T c.(808-810)gCg>gTg p.A270V NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 270 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton p.A270V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GATGATCTCCGCCTGGTAGGA 0.592000 5 120 0 0 1 0 0 INSL6 11172 broad.mit.edu 37 9 5185468 5185468 + Silent SNP G G A rs141353328 byFrequency TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr9:5185468G>A ENST00000381641.3 - 1 200 c.135C>T c.(133-135)tgC>tgT p.C45C NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 45 extracellular region hormone activity p.C45C(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) TGGCATGGCCGCAGAGTTTTT 0.542000 4 84 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 55 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158583518 158583518 + Missense_Mutation SNP G G T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr1:158583518G>T ENST00000368148.3 - 50 7162 c.6982C>A c.(6982-6984)Cca>Aca p.P2328T SPTA1_ENST00000368147.3_Missense_Mutation_p.P2325T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2328 EF-hand 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TACCTCCCTGGATCCACAGCA 0.493000 14 34 3.27435e-08 3.4728e-08 1 1 0 RREB1 6239 broad.mit.edu 37 6 7231362 7231362 + Silent SNP C C T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr6:7231362C>T ENST00000379938.2 + 10 3567 c.3030C>T c.(3028-3030)ggC>ggT p.G1010G RREB1_ENST00000334984.6_Silent_p.G1010G|RREB1_ENST00000379933.3_Silent_p.G1010G|RREB1_ENST00000349384.6_Silent_p.G1010G NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1010 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCCTGCAGGGCCCTGTTCAGC 0.667000 5 40 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13251080 13251080 + Silent SNP T T G TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr8:13251080T>G ENST00000276297.4 - 4 1705 c.1296A>C c.(1294-1296)ggA>ggC p.G432G DLC1_ENST00000316609.5_Silent_p.G432G|DLC1_ENST00000511869.1_Silent_p.G432G NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 432 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TGGGTTTGGTTCCAGAATTGG 0.413000 47 49 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196678722 196678722 + Missense_Mutation SNP C C T rs146476701 TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr3:196678722C>T ENST00000412723.1 - 2 327 c.181G>A c.(181-183)Gag>Aag p.E61K PIGZ_ENST00000443835.1_Missense_Mutation_p.E61K NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 61 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) TGGAAGAACTCATCTGGGTGC 0.567000 3 47 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 41 0 0 1 0 0 HTR3B 9177 broad.mit.edu 37 11 113815463 113815463 + Missense_Mutation SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr11:113815463G>A ENST00000260191.2 + 8 1333 c.1076G>A c.(1075-1077)cGt>cAt p.R359H HTR3B_ENST00000537778.1_Missense_Mutation_p.R348H NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 359 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) AGGGCCCAACGTGCTGTGGTA 0.532000 29 44 0 0 1 0 0 PCDHGA3 0 broad.mit.edu 37 5 140725487 140725487 + Silent SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr5:140725487G>A ENST00000253812.6 + 1 1887 c.1887G>A c.(1885-1887)gcG>gcA p.A629A PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.A629A(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCACGGCGCGAGCCCTGC 0.701000 33 67 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661362 22661362 + RNA SNP C C T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr22:22661362C>T ENST00000426066.1 + 0 360 NR_027293.1 TGGGCAACAGCGAGGGAAATG 0.502000 3 40 0 0 1 0 0 CYP21A1P 0 broad.mit.edu 37 6 31975129 31975129 + RNA SNP T T C rs113153064 by1000genomes TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr6:31975129T>C ENST00000342991.6 + 0 1252 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen AAGAGGGCTCTGGACAGCTCC 0.607000 4 82 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G G A rs4660360 by1000genomes TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr1:47325354G>A ENST00000505841.1 - 0 1175 NR_002788.2 CATCTGGAAAGGTAATGGGTT 0.438000 7 61 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070069 141070069 + RNA SNP C C T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr9:141070069C>T ENST00000503395.1 + 0 1149 GGTACGTGCCCCGCGCTGTGC 0.711000 3 46 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72961875 72961875 + Silent SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr14:72961875G>A ENST00000553530.1 + 13 1077 c.870G>A c.(868-870)acG>acA p.T290T RGS6_ENST00000434263.2_Silent_p.T221T|RGS6_ENST00000555571.1_Silent_p.T290T|RGS6_ENST00000556437.1_Silent_p.T290T|RGS6_ENST00000402788.2_Silent_p.T290T|RGS6_ENST00000554782.1_Silent_p.T151T|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000407322.4_Silent_p.T290T|RGS6_ENST00000406236.4_Silent_p.T290T|RGS6_ENST00000553525.1_Silent_p.T290T|RGS6_ENST00000404301.2_Silent_p.T290T|RGS6_ENST00000355512.6_Silent_p.T290T NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 290 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TTGCCTACACGGAACAATATG 0.433000 6 112 0 0 1 0 0 BDH1 622 broad.mit.edu 37 3 197239158 197239158 + Missense_Mutation SNP C C A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr3:197239158C>A ENST00000392379.1 - 8 1041 c.640G>T c.(640-642)Ggg>Tgg p.G214W BDH1_ENST00000441275.1_Missense_Mutation_p.G127W|BDH1_ENST00000392378.2_Missense_Mutation_p.G214W|BDH1_ENST00000358186.2_Missense_Mutation_p.G214W NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 214 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GCCTCTACCCCGAACTTGGTG 0.632000 20 36 2.4624e-09 2.69325e-09 1 1 0 LILRA1 11024 broad.mit.edu 37 19 55107397 55107397 + Missense_Mutation SNP G G A rs149029653 byFrequency TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr19:55107397G>A ENST00000251372.3 + 6 1137 c.955G>A c.(955-957)Gca>Aca p.A319T LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 319 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CATCCTGATCGCAGGTGAGGA 0.682000 4 72 0 0 1 0 0 FAM124B 79843 broad.mit.edu 37 2 225266211 225266211 + Missense_Mutation SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr2:225266211G>A ENST00000389874.3 - 1 500 c.275C>T c.(274-276)tCg>tTg p.S92L FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L|FAM124B_ENST00000409685.3_Missense_Mutation_p.S92L NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 92 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) CTGCCATGGCGAATGCTGGAG 0.582000 13 36 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 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 21 40 0 0 1 0 0 C17orf59 54785 broad.mit.edu 37 17 8093098 8093098 + Missense_Mutation SNP A A C TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr17:8093098A>C ENST00000389017.4 - 1 466 c.361T>G c.(361-363)Tcc>Gcc p.S121A NM_017622.2 NP_060092.2 Q96GS4 CQ059_HUMAN chromosome 17 open reading frame 59 121 large_intestine(2)|lung(3)|urinary_tract(1) 6 CTCCCGGAGGAGGGCTTGCCC 0.731000 6 12 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92568204 92568204 + Missense_Mutation SNP G G C TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr11:92568204G>C ENST00000298047.6 + 14 10057 c.10040G>C c.(10039-10041)aGt>aCt p.S3347T FAT3_ENST00000409404.2_Missense_Mutation_p.S3347T|FAT3_ENST00000525166.1_Missense_Mutation_p.S3197T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3347 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACGTCTACAGTGCGGTTATC 0.517000 TCGA Ovarian(4;0.039) 7 10 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139668161 139668161 + Silent SNP C C T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr8:139668161C>T ENST00000303045.6 - 45 3758 c.3312G>A c.(3310-3312)ggG>ggA p.G1104G COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1084G NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1104 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GATTTATGTCCCCTGGAGACA 0.388000 HNSCC(7;0.00092) 7 131 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 5 9 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157100396 157100397 + In_Frame_Ins INS - - CGC TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr6:157100396_157100397insCGC ENST00000346085.5 + 1 1334_1335 c.1333_1334insCGC c.(1333-1335)gcc>CGCgcc p.444_445insR ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 444 Ala-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.P392_S393insP(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCCCCAGCGCGCCGCCGCCG 0.787 4 4 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1030583 1030583 + Frame_Shift_Del DEL G G - TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr11:1030583delG ENST00000421673.2 - 7 932 c.882delC c.(880-882)ccfs p.P294fs NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 294 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCACAGGCCGGGGCTCCGCC 0.706 2 4 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183626 + RNA DEL TT TT - rs11296516 TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr16:81183625_81183626delTT ENST00000533478.1 - 0 2609 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGTTCACACtttttttttttt 0.465 5 3 --- --- --- --- CXXC1P1 0 broad.mit.edu 37 X 47578328 47578329 + RNA INS - - T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chrX:47578328_47578329insT ENST00000483225.1 + 0 195 NR_033924.1 CAAAGCTGCCGTTTTTTTGTGT 0.495 3 5 --- --- --- ---