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 DEGS2 123099 broad.mit.edu 37 14 100615601 100615601 + Missense_Mutation SNP C C T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr14:100615601C>T uc001ygx.2 - 1 617 c.529G>A c.(529-531)Gtc>Atc p.V177I NM_206918 NP_996801 Q6QHC5 DEGS2_HUMAN Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA. 177 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) TTGGGGTGGACGCAGAGCGGC 0.667000 10 32 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111556600 111556600 + Missense_Mutation SNP G G C TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr2:111556600G>C uc010yxk.1 + 6 694 c.470G>C c.(469-471)tGt>tCt p.C157S ACOXL_uc021vmm.1_5'UTR|ACOXL_uc021vmn.1_5'UTR NM_001142807 NP_001136279 Q9NUZ1 ACOXL_HUMAN Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA. 157 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GGGCCCCACTGTTTCATCGTT 0.463000 13 107 0 0 1 0 0 UBAP1 51271 broad.mit.edu 37 9 34241443 34241443 + Silent SNP G G A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr9:34241443G>A uc011loj.2 + 2 622 c.612G>A c.(610-612)acG>acA p.T204T UBAP1_uc010mka.2_Silent_p.T176T|UBAP1_uc022bfy.1_Silent_p.T140T|UBAP1_uc003zty.3_Silent_p.T140T|UBAP1_uc022bfz.1_Silent_p.T140T|UBAP1_uc003ztx.3_Silent_p.T140T|UBAP1_uc011loi.2_Silent_p.T176T|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Silent_p.T140T NM_001171201 NP_001164672 Q9NZ09 UBAP1_HUMAN Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 4, mRNA. 140 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) GTAGTGCCACGAAACAGAAAG 0.478000 9 58 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306946 2306946 + Missense_Mutation SNP C C G TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr4:2306946C>G uc003gex.2 - 7 1441 c.1121G>C c.(1120-1122)gGa>gCa p.G374A ZFYVE28_uc011bvk.2_Missense_Mutation_p.G304A|ZFYVE28_uc011bvl.2_Missense_Mutation_p.G344A|ZFYVE28_uc003gew.2_Missense_Mutation_p.G260A NM_020972 NP_001166130 Q9HCC9 LST2_HUMAN Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA. 374 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GCCCTCCGCTCCTGGCCTGTG 0.667000 9 40 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160109744 160109744 + Nonsense_Mutation SNP C C T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr1:160109744C>T uc001fvc.3 + 21 3136 c.3004C>T c.(3004-3006)Cga>Tga p.R1002* ATP1A2_uc001fvd.3_Nonsense_Mutation_p.R721* NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 1002 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.R1002R(3) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGATGAGGTCCGAAAGCTCAT 0.582000 10 69 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8639291 8639291 + Missense_Mutation SNP C C A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr20:8639291C>A uc002wnb.3 + 8 805 c.802C>A c.(802-804)Caa>Aaa p.Q268K PLCB1_uc010zrb.1_Missense_Mutation_p.Q167K|PLCB1_uc002wna.3_Missense_Mutation_p.Q268K|PLCB1_uc002wnc.1_Missense_Mutation_p.Q167K NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 268 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ACCTCTAAAACAAGAGCAAGT 0.398000 17 92 0 0 1 0 0 BSG 682 broad.mit.edu 37 19 577919 577919 + Missense_Mutation SNP G G C TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr19:577919G>C uc002loz.3 + 1 311 c.213G>C c.(211-213)tgG>tgC p.W71C BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002lpa.3_Intron|BSG_uc002lpc.3_5'Flank NM_001728 NP_001719 P35613 BASI_HUMAN Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA. 71 blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGCTCTGGGACGGCGCCC 0.687000 4 13 0 0 1 0 0 ENTPD6 955 broad.mit.edu 37 20 25198164 25198164 + Silent SNP C C T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr20:25198164C>T uc002wuj.2 + 8 1005 c.825C>T c.(823-825)ggC>ggT p.G275G ENTPD6_uc010zsy.1_Silent_p.G275G|ENTPD6_uc010gdj.1_Silent_p.G247G|ENTPD6_uc002wum.2_Silent_p.G258G|ENTPD6_uc010zta.1_Silent_p.G275G|ENTPD6_uc002wuk.2_Silent_p.G274G|ENTPD6_uc002wul.2_Silent_p.G274G|ENTPD6_uc010ztb.1_Silent_p.G247G|ENTPD6_uc010ztc.1_Silent_p.G247G|ENTPD6_uc002wuo.2_Silent_p.G27G|ENTPD6_uc010zsz.1_Silent_p.G57G|ENTPD6_uc010ztd.1_Silent_p.G57G NM_001247 NP_001238 O75354 ENTP6_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA. 275 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CCCCACCCGGCTACCTGACGG 0.552000 14 83 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121001322 121001322 + Missense_Mutation SNP A A G TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr12:121001322A>G uc001typ.4 + 8 1910 c.1427A>G c.(1426-1428)aAt>aGt p.N476S RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.N387S NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN Homo sapiens ring finger protein 10 (RNF10), mRNA. 476 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCAGATGACAATCTTAAAGAG 0.527000 11 41 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8375990 8375990 + Missense_Mutation SNP C C T rs142960593 byFrequency TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr9:8375990C>T uc003zkk.3 - 38 5350 c.4607G>A c.(4606-4608)cGt>cAt p.R1536H PTPRD_uc003zkp.3_Missense_Mutation_p.R1130H|PTPRD_uc003zkq.3_Missense_Mutation_p.R1129H|PTPRD_uc003zkr.3_Missense_Mutation_p.R1120H|PTPRD_uc003zks.3_Missense_Mutation_p.R1129H|PTPRD_uc022bdj.1_Missense_Mutation_p.R1126H NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1536 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R1536L(2) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTTGACTCTACGTAAGAAAGC 0.468000 TSP Lung(15;0.13) 13 56 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 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 16 63 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70417314 70417314 + Silent SNP G G A rs144601570 byFrequency TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr18:70417314G>A uc002lkw.3 - 8 1808 c.1524C>T c.(1522-1524)caC>caT p.H508H NETO1_uc002lky.2_Silent_p.H508H NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 508 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CGGCTTTATCGTGTCTGGACA 0.438000 7 37 0 0 1 0 0 OTUD5 55593 broad.mit.edu 37 X 48781191 48781191 + Missense_Mutation SNP T T C TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chrX:48781191T>C uc004dlu.3 - 6 1478 c.1417A>G c.(1417-1419)Atg>Gtg p.M473V OTUD5_uc004dlt.4_Missense_Mutation_p.M468V|OTUD5_uc004dlv.3_Missense_Mutation_p.M468V|OTUD5_uc011mmp.2_Missense_Mutation_p.M251V NM_017602 NP_060072 Q96G74 OTUD5_HUMAN Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA. 473 negative regulation of type I interferon production cysteine-type peptidase activity endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 GGGGGCTTCATGCCCAATTCA 0.617000 5 17 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160523156 160523156 + Missense_Mutation SNP G G A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr1:160523156G>A uc001fwh.4 - 3 851 c.772C>T c.(772-774)Cca>Tca p.P258S CD84_uc001fwf.4_Intron|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Intron|CD84_uc001fwj.3_Missense_Mutation_p.P258S NM_001184879 NP_001171808 Q9UIB8 SLAF5_HUMAN Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA. 258 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTACCTTCTGGGAAAATCCTA 0.458000 7 37 0 0 1 0 0 STAG3L4 64940 broad.mit.edu 37 7 66774113 66774113 + Silent SNP T T C TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr7:66774113T>C uc003tvt.4 + 2 537 c.279T>C c.(277-279)acT>acC p.T93T STAG3L4_uc010laj.3_Non-coding_Transcript Q8TBR4 STG34_HUMAN Homo sapiens stromal antigen 3-like 4 (STAG3L4), transcript variant 2, non-coding RNA. 93 endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TCTGTCACACTAGCACCCTGG 0.498000 13 69 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599357 136599357 + Missense_Mutation SNP T T A TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chr6:136599357T>A uc003qgx.1 - 3 915 c.662A>T c.(661-663)aAt>aTt p.N221I BCLAF1_uc003qgy.1_Missense_Mutation_p.N219I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.N219I|BCLAF1_uc003qgw.1_Missense_Mutation_p.N221I NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 221 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTAGGACTATTATCATAAGC 0.433000 10 175 0 0 1 0 0 TMSB15A 11013 broad.mit.edu 37 X 101770063 101770063 + Missense_Mutation SNP A A T TCGA-EM-A4FO-01A-11D-A257-08 TCGA-EM-A4FO-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebe8c430-5f66-4ddc-bbfb-30a601278c1f 059e7e1a-05de-45bb-879b-d3a813025b91 g.chrX:101770063A>T uc004eje.3 - 1 152 c.29T>A c.(28-30)gTg>gAg p.V10E NM_021992 NP_919305 P0CG34 TB15A_HUMAN Homo sapiens thymosin beta 15a (TMSB15A), mRNA. 10 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding large_intestine(1)|lung(1) 2 AAACTTCTCCACTTCCGACAA 0.383000 15 34 0 0 1 0 0