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 GPM6B 2824 broad.mit.edu 37 X 13798077 13798077 + Missense_Mutation SNP G G C TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chrX:13798077G>C uc004cvw.3 - 4 848 c.557C>G c.(556-558)gCc>gGc p.A186G GPM6B_uc004cvx.3_Missense_Mutation_p.A127G|GPM6B_uc011min.1_Missense_Mutation_p.A60G|GPM6B_uc004cwa.2_Missense_Mutation_p.A127G|GPM6B_uc011mim.2_Missense_Mutation_p.A160G|GPM6B_uc004cvy.2_Missense_Mutation_p.A186G|GPM6B_uc004cvz.2_Missense_Mutation_p.A146G NM_001001995 NP_001001995 Q13491 GPM6B_HUMAN Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA. 146 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 ACCCAGCCAGGCCACTCCAAG 0.493000 9 92 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109365442 109365442 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr2:109365442C>T uc002tem.4 + 8 1256 c.1130C>T c.(1129-1131)gCc>gTc p.A377V NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 377 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAACTTTTGCCAACAAAAGC 0.348000 5 290 0 0 1 0 0 CDCA3 83461 broad.mit.edu 37 12 6960070 6960070 + Missense_Mutation SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr12:6960070G>A uc001qrg.2 - 1 175 c.47C>T c.(46-48)cCg>cTg p.P16L CDCA3_uc001qre.2_Missense_Mutation_p.P16L|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank NM_031299 NP_112589 Q99618 CDCA3_HUMAN Homo sapiens cell division cycle associated 3 (CDCA3), mRNA. 16 cell division|mitosis cytosol breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1) 8 CTTGTTGTGCGGCGGAGGCCG 0.662000 3 37 0 0 1 0 0 TRMT6 51605 broad.mit.edu 37 20 5923212 5923212 + Silent SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr20:5923212C>T uc002wmh.1 - 6 1010 c.888G>A c.(886-888)caG>caA p.Q296Q TRMT6_uc010zra.1_Silent_p.Q126Q|TRMT6_uc010gbn.1_Silent_p.Q126Q|TRMT6_uc010gbo.1_Non-coding_Transcript NM_015939 NP_057023 Q9UJA5 TRM6_HUMAN Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA. 296 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 GTTCAGAAGCCTGTTTTTCCT 0.443000 15 50 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81124216 81124216 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr4:81124216C>T uc010ijo.3 + 7 2439 c.1600C>T c.(1600-1602)Ccc>Tcc p.P534S PRDM8_uc003hmb.4_Missense_Mutation_p.P534S|PRDM8_uc003hmc.4_Missense_Mutation_p.P534S NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA. 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 CGGCGTGGGCCCCACCAGACT 0.731000 6 6 0 0 1 0 0 TBC1D7 51256 broad.mit.edu 37 6 13307947 13307947 + Nonsense_Mutation SNP C C A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr6:13307947C>A uc003naj.3 - 5 658 c.550G>T c.(550-552)Gaa>Taa p.E184* TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nan.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nam.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nao.3_Nonsense_Mutation_p.E157*|TBC1D7_uc010jpd.3_Nonsense_Mutation_p.E138* NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA. 184 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle Rab GTPase activator activity|protein binding breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) CTGCCATCTTCCAGATTCAAG 0.423000 15 54 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136647064 136647064 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr3:136647064C>T uc003erh.3 + 1 351 c.221C>T c.(220-222)aCc>aTc p.T74I NCK1_uc011bme.2_5'Flank NM_006153 NP_006144 P16333 NCK1_HUMAN Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA. 74 T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 CTAAAGGATACCTTAGGTAAG 0.333000 11 23 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155569232 155569232 + Missense_Mutation SNP A A G TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr6:155569232A>G uc003qqb.3 + 21 5024 c.3751A>G c.(3751-3753)Aga>Gga p.R1251G TIAM2_uc003qqe.3_Missense_Mutation_p.R1251G|TIAM2_uc010kjj.3_Missense_Mutation_p.R784G|TIAM2_uc003qqf.3_Missense_Mutation_p.R627G|TIAM2_uc011efl.1_Missense_Mutation_p.R587G|TIAM2_uc003qqg.3_Missense_Mutation_p.R563G|TIAM2_uc003qqh.3_Missense_Mutation_p.R176G NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 1251 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GCCGGTTCAGAGAGTGCTCAA 0.607000 OREG0017745 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 65 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 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 23 54 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99042229 99042229 + Missense_Mutation SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr12:99042229G>A uc001tfz.3 + 1 669 c.92G>A c.(91-93)aGt>aAt p.S31N APAF1_uc001tfy.3_Missense_Mutation_p.S31N|APAF1_uc001tga.3_Missense_Mutation_p.S31N|APAF1_uc001tgb.3_Missense_Mutation_p.S31N|APAF1_uc001tgc.3_Missense_Mutation_p.S31N NM_181861 NP_863651 O14727 APAF_HUMAN Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA. 31 CARD. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development Golgi apparatus|cytosol|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) CACATGATTAGTGATGGATTT 0.358000 4 136 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134252734 134252734 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr11:134252734C>T uc010scv.1 - 3 867 c.827G>A c.(826-828)cGg>cAg p.R276Q B3GAT1_uc001qhq.3_Missense_Mutation_p.R263Q|B3GAT1_uc001qhr.3_Missense_Mutation_p.R263Q NM_054025 NP_473366 Q9P2W7 B3GA1_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 2, mRNA. 263 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CAGAATGAGCCGCAGGTTGAC 0.592000 12 37 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32199070 32199070 + Missense_Mutation SNP C C G TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr20:32199070C>G uc002wzg.1 + 3 913 c.376C>G c.(376-378)Ctg>Gtg p.L126V CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.L117V|CBFA2T2_uc021wbz.1_Missense_Mutation_p.L97V|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L97V|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript NM_005093 NP_001034798 O43439 MTG8R_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA. 126 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 TCTTACCACTCTGCAACAGTT 0.507000 29 112 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49684617 49684617 + Missense_Mutation SNP T T C TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr19:49684617T>C uc002pmw.3 + 9 1270 c.1162T>C c.(1162-1164)Tcg>Ccg p.S388P TRPM4_uc010emu.3_Missense_Mutation_p.S388P|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.S214P|TRPM4_uc010emv.3_Missense_Mutation_p.S273P|TRPM4_uc010yal.2_Intron|TRPM4_uc002pmy.3_5'Flank NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 388 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CTGTGGGAGCTCGGAGGCCTC 0.557000 3 99 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140237799 140237799 + Silent SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr5:140237799G>A uc003lhx.2 + 0 2166 c.2166G>A c.(2164-2166)tcG>tcA p.S722S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.S722S NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 738 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGGTGCTCGGCGGCGCCCA 0.662000 15 27 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170054 90170054 + Missense_Mutation SNP G G T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr4:90170054G>T uc003hsm.1 - 1 1727 c.1208C>A c.(1207-1209)gCt>gAt p.A403D GPRIN3_uc021xqb.1_Missense_Mutation_p.A403D NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN Homo sapiens GPRIN family member 3 (GPRIN3), mRNA. 403 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CCGTTGGAAAGCTGTAGACTC 0.532000 7 127 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135202535 135202535 + Missense_Mutation SNP A A G TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr10:135202535A>G uc001lmy.3 + 3 1024 c.944A>G c.(943-945)tAc>tGc p.Y315C PAOX_uc001lmv.3_Silent_p.V399V|PAOX_uc001lmx.3_Silent_p.V399V|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Non-coding_Transcript NM_207127 NP_997010 Q6QHF9 PAOX_HUMAN Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 4, mRNA. 0 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) ATGAAGAAGTACTTCTGTGTC 0.527000 7 218 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 189028237 189028237 + Missense_Mutation SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr3:189028237G>A uc003frv.2 + 9 1769 c.542G>A c.(541-543)cGc>cAc p.R181H TPRG1_uc003frw.2_Missense_Mutation_p.R181H NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA. 181 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CTTCTGTCCCGCTGGAACCCA 0.473000 4 60 0 0 1 0 0