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 PITPNM3 83394 broad.mit.edu 37 17 6367996 6367996 + Missense_Mutation SNP C C T TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr17:6367996C>T uc002gdd.4 - 14 2137 c.1986G>A c.(1984-1986)atG>atA p.M662I PITPNM3_uc010cln.3_Missense_Mutation_p.M626I|PITPNM3_uc010clm.3_Missense_Mutation_p.M145I|PITPNM3_uc002gdc.4_Missense_Mutation_p.M253I NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA. 662 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) TCAGAGCCACCATGTCGAGGG 0.622000 8 28 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216608 78216608 + Silent SNP G G T TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chrX:78216608G>T uc004ede.3 + 3 960 c.591G>T c.(589-591)ggG>ggT p.G197G P2RY10_uc004edf.3_Silent_p.G197G|P2RY10_uc022bzl.1_Silent_p.G197G NM_014499 NP_938147 O00398 P2Y10_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 1, mRNA. 197 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CGTTGGTCGGGATGATTACAG 0.453000 3 43 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089600 86089600 + Missense_Mutation SNP G G A TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr14:86089600G>A uc001xvr.3 + 1 2509 c.1742G>A c.(1741-1743)cGg>cAg p.R581Q FLRT2_uc010atd.3_Missense_Mutation_p.R581Q|FLRT2_uc021rxf.1_Missense_Mutation_p.R581Q NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 581 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) AAATACAACCGGGGCCGGCGG 0.517000 4 118 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24357867 24357867 + Missense_Mutation SNP C C T TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr6:24357867C>T uc003ndx.3 - 0 414 c.112G>A c.(112-114)Gag>Aag p.E38K DCDC2_uc003ndy.3_Missense_Mutation_p.E38K|KAAG1_uc003ndz.1_5'UTR NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA. 38 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) ACCTTCTTCTCATGGATGACG 0.642000 10 43 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44437073 44437073 + Missense_Mutation SNP C C A TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr21:44437073C>A uc002zcq.1 + 5 766 c.578C>A c.(577-579)gCg>gAg p.A193E PKNOX1_uc002zcp.1_Missense_Mutation_p.A193E|PKNOX1_uc011aex.1_Missense_Mutation_p.A76E|PKNOX1_uc002zcr.3_Missense_Mutation_p.A193E NM_004571 NP_004562 P55347 PKNX1_HUMAN Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA. 193 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GTGGTGCCGGCGTCCGCGCTG 0.512000 3 53 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 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 10 36 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596319 58596319 + Silent SNP G G A TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr19:58596319G>A uc010yht.1 - 6 1464 c.1434C>T c.(1432-1434)ttC>ttT p.F478F ZSCAN18_uc002qrj.3_Silent_p.F421F|ZSCAN18_uc010yhs.1_Silent_p.F286F|ZSCAN18_uc002qrh.2_Silent_p.F422F|ZSCAN18_uc002qri.2_Silent_p.F422F|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145542 NP_001139014 Q8TBC5 ZSC18_HUMAN Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA. 422 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGAGCCACGCGAAGGCCTCCC 0.716000 3 8 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149501110 149501110 + Frame_Shift_Del DEL G G - TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr7:149501110delG uc010lpk.3 + 55 8237 c.8237delG c.(8236-8238)tggfs p.W2746fs NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2749 TSP type-1 6. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGGCAGCCTGGGGGGGTGCC 0.667 2 4 --- --- --- --- NIPA1 123606 broad.mit.edu 37 15 23086365 23086367 + In_Frame_Del DEL GCC GCC - TCGA-EL-A3TA-01A-12D-A22D-08 TCGA-EL-A3TA-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 895d7cda-8b78-4665-a65f-2f9cb3bd44d7 888f0871-a5ca-412f-a605-07ca39f97ff2 g.chr15:23086365_23086367delGCC uc001yvc.3 - 0 70_72 c.45_47delGGC c.(43-48)gcggcc>gcc p.15_16AA>A NIPA1_uc001yvd.3_5'UTR|NIPA1_uc001yve.3_Intron NM_144599 NP_001135747 Q7RTP0 NIPA1_HUMAN Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA. 15 cell death early endosome|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) CCCCTCCCCGgccgccgccgccg 0.818 3 3 --- --- --- ---