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 CACNA1D 776 broad.mit.edu 37 3 53757947 53757947 + Missense_Mutation SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:53757947G>A uc003dgu.4 + 14 2244 c.2081G>A c.(2080-2082)gGc>gAc p.G694D CACNA1D_uc003dgv.4_Missense_Mutation_p.G674D|CACNA1D_uc003dgy.4_Missense_Mutation_p.G674D|CACNA1D_uc003dgw.4_Missense_Mutation_p.G341D NM_000720 NP_000711 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 1, mRNA. 674 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTGTTTGGCGGCAAGTTTAAT 0.458000 4 179 0 0 1 0 0 KBTBD5 131377 broad.mit.edu 37 3 42727577 42727577 + Missense_Mutation SNP T T A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:42727577T>A uc003clv.1 + 0 567 c.467T>A c.(466-468)aTc>aAc p.I156N NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA. 156 BACK. breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(284;0.214) CGCGACTTCATCTGCGCTCAC 0.657000 9 60 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20259495 20259495 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr4:20259495C>T uc003gpr.1 + 2 460 c.256C>T c.(256-258)Ctt>Ttt p.L86F SLIT2_uc003gps.1_Missense_Mutation_p.L86F NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 86 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTTCAGTCAGCTTATGGAGAA 0.333000 5 189 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16952630 16952630 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr19:16952630C>T uc002ney.2 + 3 456 c.433C>T c.(433-435)Ccg>Tcg p.P145S SIN3B_uc002new.3_Missense_Mutation_p.P145S|SIN3B_uc002nez.2_Missense_Mutation_p.P145S NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 145 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GCAGCAGGTGCCGTATAAAGA 0.522000 4 119 0 0 1 0 0 RAD18 56852 broad.mit.edu 37 3 8990195 8990195 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:8990195C>T uc003brd.3 - 2 283 c.193G>A c.(193-195)Gtg>Atg p.V65M NM_020165 NP_064550 Q9NS91 RAD18_HUMAN Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA. 65 DNA repair nucleus|replication fork Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3) 15 OV - Ovarian serous cystadenocarcinoma(96;0.0552) AAACTCACCACACAGCAAGTT 0.338000 Rad6 pathway 4 155 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 26 72 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16256941 16256941 + Missense_Mutation SNP C C T rs63750146 TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr16:16256941C>T uc002den.4 - 23 3452 c.3415G>A c.(3415-3417)Gca>Aca p.A1139T ABCC6_uc010bvo.3_Intron NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 1139 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GTTCGGAATGCCCGGACCACT 0.582000 4 156 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113742643 113742643 + Silent SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr13:113742643G>A uc001vsu.3 + 23 2862 c.2862G>A c.(2860-2862)gcG>gcA p.A954A MCF2L_uc001vsq.3_Silent_p.A954A|MCF2L_uc010tjr.2_Silent_p.A897A|MCF2L_uc001vsr.3_Silent_p.A901A|MCF2L_uc001vss.4_Silent_p.A895A|MCF2L_uc010tjs.2_Silent_p.A895A NM_024979 NP_079255 O15068 MCF2L_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA. 927 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GGAAACAGGCGCCAACTCCTG 0.522000 5 187 0 0 1 0 0 OVOS2 0 broad.mit.edu 37 12 31282754 31282754 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr12:31282754C>T uc010sjy.1 - 23 3130 c.3130G>A c.(3130-3132)Gat>Aat p.D1044N RecName: Full=Ovostatin homolog 2; Flags: Precursor; all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) ACATTTTCATCAATGAATACA 0.378000 2 3 0 0 1 0 0 C14orf133 63894 broad.mit.edu 37 14 77904217 77904217 + Missense_Mutation SNP T T C TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr14:77904217T>C uc001xtt.2 - 12 1187 c.770A>G c.(769-771)cAt>cGt p.H257R C14orf133_uc001xtu.2_Missense_Mutation_p.H257R|C14orf133_uc001xtv.2_Missense_Mutation_p.H257R|C14orf133_uc021rwu.1_Missense_Mutation_p.H257R|C14orf133_uc010tvj.2_Missense_Mutation_p.H208R NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA. 257 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CTCTCGATAATGAGATAGCTA 0.348000 4 135 0 0 1 0 0 RASSF1 11186 broad.mit.edu 37 3 50368106 50368106 + Missense_Mutation SNP C C T rs142957899 TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:50368106C>T uc003dad.1 - 5 1072 c.941G>A c.(940-942)cGg>cAg p.R314Q TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Missense_Mutation_p.R159Q|RASSF1_uc003dab.1_Missense_Mutation_p.R240Q|RASSF1_uc003dac.2_Missense_Mutation_p.R159Q|RASSF1_uc003dae.1_Missense_Mutation_p.R310Q|RASSF1_uc003daf.1_Missense_Mutation_p.R159Q|RASSF1_uc010hlk.1_Non-coding_Transcript NM_170714 NP_733830 Q9NS23 RASF1_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 1 (RASSF1), transcript variant D, mRNA. 314 SARAH. Ras protein signal transduction|cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein N-terminus binding|protein binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CTCCTCCTCCCGCTGCAGGAT 0.587000 27 90 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52618688 52618688 + Missense_Mutation SNP A A G TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr19:52618688A>G uc002pym.3 - 3 2012 c.1729T>C c.(1729-1731)Tac>Cac p.Y577H ZNF616_uc002pyn.3_Non-coding_Transcript NM_178523 NP_848618 Q08AN1 ZN616_HUMAN Homo sapiens zinc finger protein 616 (ZNF616), mRNA. 577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TTGCATTTGTAAGGTTTCTCT 0.418000 3 77 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40585837 40585837 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr15:40585837C>T uc001zld.3 - 19 2451 c.2150G>A c.(2149-2151)cGc>cAc p.R717H PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.R713H|PLCB2_uc010ucm.2_Missense_Mutation_p.R717H NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 717 C2. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGTTCGATAGCGCCTCTTGGG 0.582000 4 136 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29835022 29835022 + Missense_Mutation SNP G G C TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr22:29835022G>C uc003afn.3 + 0 451 c.242G>C c.(241-243)tGt>tCt p.C81S RFPL1-AS1_uc003afm.2_Non-coding_Transcript NM_021026 NP_066306 O75677 RFPL1_HUMAN Homo sapiens ret finger protein-like 1 (RFPL1), mRNA. 81 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TGCTGTTGCTGTTCCATGGTC 0.517000 42 151 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6682003 6682003 + Silent SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr19:6682003C>T uc002mfm.3 - 34 4361 c.4299G>A c.(4297-4299)gaG>gaA p.E1433E NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1433 Properdin-binding. G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTTTGTCCAGCTCATACTTGG 0.562000 57 169 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35800129 35800129 + Silent SNP G G A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr5:35800129G>A uc003jjo.3 + 33 5001 c.4890G>A c.(4888-4890)caG>caA p.Q1630Q SPEF2_uc003jjp.1_Silent_p.Q1116Q|SPEF2_uc003jjr.3_Silent_p.Q685Q NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1630 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACTACACACAGATGCTGCTTT 0.463000 8 268 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234389870 234389870 + Missense_Mutation SNP C C T TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr2:234389870C>T uc010zmr.2 - 29 3611 c.3611G>A c.(3610-3612)cGg>cAg p.R1204Q USP40_uc002vul.3_Missense_Mutation_p.R188Q NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 1192 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CCCCAGGGCCCGTTGTTTCTG 0.453000 3 19 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41280717 41280717 + Missense_Mutation SNP C C A TCGA-BJ-A0Z3-01A-11D-A13W-08 TCGA-BJ-A0Z3-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc420533-cb1a-4038-a98f-3e18292c4252 f8ab72e7-99c0-43c5-8f30-6a7895e91015 g.chr3:41280717C>A uc010hia.1 + 15 2386 c.2230C>A c.(2230-2232)Cct>Act p.P744T CTNNB1_uc003ckq.2_Missense_Mutation_p.P744T|CTNNB1_uc003ckp.2_Missense_Mutation_p.P744T|CTNNB1_uc003ckr.2_Missense_Mutation_p.P744T|CTNNB1_uc011azf.1_Missense_Mutation_p.P737T|CTNNB1_uc011azg.1_Missense_Mutation_p.P672T NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 744 Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGCCACCACCCTGGTGCTGA 0.557000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 6 90 0 0 1 0 0