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 TBC1D1 23216 broad.mit.edu 37 4 38016200 38016200 + Missense_Mutation SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr4:38016200C>G uc003gtb.3 + 2 846 c.488C>G c.(487-489)tCc>tGc p.S163C TBC1D1_uc011byd.2_Missense_Mutation_p.S163C|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.S34C NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 163 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CACTGCCCGTCCGAGTTCGAC 0.622000 28 120 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79069817 79069817 + Missense_Mutation SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr15:79069817C>G uc002bej.4 - 8 1647 c.1436G>C c.(1435-1437)gGg>gCg p.G479A ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G479A NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 479 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGAGTAGGCCCCGTACTGGAG 0.652000 3 16 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153039673 153039673 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chrX:153039673G>C uc010nuk.2 + 21 3892 c.3621G>C c.(3619-3621)gaG>gaC p.E1207D PLXNB3_uc004fii.2_Missense_Mutation_p.E1184D|PLXNB3_uc011mzd.1_Missense_Mutation_p.E823D|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 1184 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCAGCAAGGAGGAGGTGCGCG 0.711000 4 13 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333582 37333582 + Missense_Mutation SNP C C T TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr22:37333582C>T uc003aqc.4 + 12 1922 c.1750C>T c.(1750-1752)Cac>Tac p.H584Y CSF2RB_uc003aqa.4_Missense_Mutation_p.H578Y NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 578 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) TGCCGCCTCCCACACACCTGA 0.662000 7 18 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332133 100332133 + RNA SNP C C T TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr15:100332133C>T uc021sxl.1 - 1 c.1020G>A DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. GGAGCCAATGCCCAGGAGGAG 0.592000 5 41 0 0 1 0 0 ZNF580 51157 broad.mit.edu 37 19 56153901 56153901 + Silent SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr19:56153901C>G uc002qlo.3 + 1 197 c.27C>G c.(25-27)ccC>ccG p.P9P ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Silent_p.P9P|ZNF580_uc010ygd.2_Silent_p.P9P|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank NM_207115 NP_996998 Q9UK33 ZN580_HUMAN Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA. 9 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGCGGCCACCCCACCCTCGGT 0.647000 3 36 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160605230 160605231 + Missense_Mutation DNP GG GG TT TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr2:160605230_160605231GG>TT uc002uax.3 + 4 1551_1552 c.1429_1430GG>TT c.(1429-1431)ggg>TTg p.G477L MARCH7_uc010foq.3_Missense_Mutation_p.G477L|MARCH7_uc010zcn.2_Missense_Mutation_p.G421L|MARCH7_uc010for.3_Missense_Mutation_p.G439L|MARCH7_uc002uay.3_Non-coding_Transcript NM_022826 NP_073737 Q9H992 MARH7_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA. 477 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AGGAATATCAGGGATTCTTCCT 0.470000 11 282 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39910084 39910084 + Silent SNP G G T TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr4:39910084G>T uc003guv.4 - 10 1704 c.1164C>A c.(1162-1164)gcC>gcA p.A388A PDS5A_uc003guw.4_Silent_p.A388A NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA. 388 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 GGTCCCTCTTGGCAGCTGTTA 0.358000 96 208 0 0 1 0 0 STOML3 161003 broad.mit.edu 37 13 39541133 39541133 + Silent SNP G G A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr13:39541133G>A uc001uwx.3 - 6 843 c.705C>T c.(703-705)tcC>tcT p.S235S STOML3_uc010tez.2_Silent_p.S226S NM_145286 NP_660329 Q8TAV4 STML3_HUMAN Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA. 235 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CCAGCACCATGGAGGCTGACT 0.468000 9 37 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677148 100677148 + Silent SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr7:100677148G>C uc003uxp.1 + 2 2504 c.2451G>C c.(2449-2451)ccG>ccC p.P817P MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 817 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCATCACACCGGTGACCAGTC 0.488000 6 509 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99339859 99339859 + Silent SNP C C G rs146831294 TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr13:99339859C>G uc001vno.3 - 20 1880 c.1803G>C c.(1801-1803)acG>acC p.T601T NM_005073 NP_005064 P46059 S15A1_HUMAN Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA. 601 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ATTCCAATCCCGTGACAGAGA 0.423000 4 152 0 0 1 0 0 VMP1 81671 broad.mit.edu 37 17 57917128 57917129 + Splice_Site DNP GG GG TT TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr17:57917128_57917129GG>TT uc002ixu.4 + 12 1351 c.1078_splice c.e12-1 p.G360_splice VMP1_uc010wog.2_Splice_Site_p.G168_splice|VMP1_uc010woh.2_Splice_Site_p.G304_splice|VMP1_uc010woi.2_Splice_Site_p.G263_splice|VMP1_uc010woj.2_Splice_Site_p.G226_splice|MIR21_uc002ixv.3_5'Flank NM_030938 NP_112200 Q96GC9 VMP1_HUMAN Homo sapiens vacuole membrane protein 1 (VMP1), mRNA. 360 autophagy|cell adhesion ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 TATTTCTACAGGGAGAAAACTG 0.361000 9 289 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67704013 67704013 + Missense_Mutation SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr12:67704013C>G uc001stn.2 + 12 3714 c.3277C>G c.(3277-3279)Cta>Gta p.L1093V CAND1_uc001sto.2_Missense_Mutation_p.L603V NM_018448 NP_060918 Q86VP6 CAND1_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA. 1093 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GTACACACTTCTAGACAGTTG 0.343000 3 59 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3155654 3155654 + Missense_Mutation SNP G G A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr10:3155654G>A uc001igp.3 + 12 1391 c.1315G>A c.(1315-1317)Gac>Aac p.D439N PFKP_uc001igq.3_Missense_Mutation_p.D431N|PFKP_uc009xhr.3_Missense_Mutation_p.D401N|PFKP_uc009xhs.1_Missense_Mutation_p.D223N|PFKP_uc009xht.3_Missense_Mutation_p.D177N|PFKP_uc009xhu.3_5'UTR NM_002627 NP_002618 Q01813 K6PP_HUMAN Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA. 439 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GGGCATTGCCGACGGCCACAG 0.617000 10 21 0 0 1 0 0 DENND2D 79961 broad.mit.edu 37 1 111741363 111741363 + Splice_Site SNP C C G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:111741363C>G uc001eak.1 - 3 444 c.244_splice c.e3-1 p.R82_splice DENND2D_uc001eal.1_Splice_Site_p.R79_splice NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA. 82 UDENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) CAGGTTCTCCCGCTATAAGGC 0.552000 3 38 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52376484 52376484 + Silent SNP C C A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr19:52376484C>A uc010yde.2 - 6 1150 c.759G>T c.(757-759)cgG>cgT p.R253R ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.R194R|ZNF577_uc002pxv.3_Silent_p.R246R|ZNF577_uc002pxw.3_Silent_p.R187R NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA. 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H253Y(1) breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCCGGCACTTCCGGCTGAAGG 0.498000 12 29 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577866 16577866 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:16577866G>C uc001ayg.3 - 9 1669 c.1453C>G c.(1453-1455)Cga>Gga p.R485G FBXO42_uc001ayf.3_Missense_Mutation_p.R392G NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN Homo sapiens F-box protein 42 (FBXO42), mRNA. 485 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GATCCTCGTCGGGGGGCCAAA 0.483000 4 71 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229577762 229577763 + Missense_Mutation DNP CG CG AT TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:229577762_229577763CG>AT uc001htn.3 - 25 3451_3452 c.3359_3360CG>AT c.(3358-3360)ccg>cAT p.P1120H NM_018230 NP_060700 Q8WUM0 NU133_HUMAN Homo sapiens nucleoporin 133kDa (NUP133), mRNA. 1120 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CTTTCACCTCCGGTAAGTACTC 0.351000 6 191 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68201226 68201226 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr11:68201226G>C uc001ont.3 + 17 3995 c.3920G>C c.(3919-3921)cGg>cCg p.R1307P LRP5_uc009ysg.3_Missense_Mutation_p.R717P NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 1307 LDL-receptor class A 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCCTGCGCGCGGGGTCAGTGT 0.711000 3 43 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5686237 5686237 + Silent SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr11:5686237G>C uc001mbm.2 - 7 1587 c.1284C>G c.(1282-1284)ccC>ccG p.P428P TRIM6-TRIM34_uc009yer.3_Intron|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR NM_033034 NP_149023 Q9C035 TRIM5_HUMAN Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA. 428 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TCACAGAGAGGGGCACAATGA 0.418000 3 70 0 0 1 0 0 C1orf110 339512 broad.mit.edu 37 1 162824952 162824952 + Missense_Mutation SNP G G C rs150783672 by1000genomes TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:162824952G>C uc001gck.2 - 3 687 c.512C>G c.(511-513)cCc>cGc p.P171R C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.P170R NM_178550 NP_848645 Q86UF4 CA110_HUMAN Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA. 171 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 GCCCTTGCTGGGGTCTACGTC 0.468000 4 220 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4708955 4708955 + Splice_Site SNP G G A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr12:4708955G>A uc009zeh.1 + 10 1168 c.1126_splice c.e10+1 p.V376_splice DYRK4_uc001qmx.3_Splice_Site_p.V261_splice|DYRK4_uc001qmy.2_Splice_Site_p.V261_splice|DYRK4_uc021qtq.1_Splice_Site_p.V115_splice NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA. 261 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) CACCAGAAAGGTGAGCCCCAT 0.453000 18 62 0 0 1 0 0 CDR2 1039 broad.mit.edu 37 16 22360757 22360757 + Missense_Mutation SNP C C T TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr16:22360757C>T uc002dkn.3 - 3 657 c.349G>A c.(349-351)Gaa>Aaa p.E117K NM_001802 NP_001793 Q01850 CDR2_HUMAN Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA. 117 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) TCAATCGTTTCAGTCAGGCTG 0.512000 10 142 0 0 1 0 0 SAMD1 90378 broad.mit.edu 37 19 14199308 14199308 + Missense_Mutation SNP A A G TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr19:14199308A>G uc010xnl.2 - 5 1220 c.1220T>C c.(1219-1221)cTg>cCg p.L407P NM_138352 NP_612361 Q6SPF0 SAMD1_HUMAN Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA. 513 cytoplasm|extracellular region endometrium(3) 3 Renal(1328;0.00183)|Hepatocellular(1079;0.00826) GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199) GTAGATTTTCAGGGCTGGCCC 0.582000 3 67 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36698048 36698048 + Missense_Mutation SNP G G A TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr8:36698048G>A uc010lvw.3 + 14 1673 c.1586G>A c.(1585-1587)cGt>cAt p.R529H KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 529 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CTGACCCAACGTCTCTCTGAT 0.403000 8 15 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 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 13 30 0 0 1 0 0 REEP3 221035 broad.mit.edu 37 10 65379435 65379435 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr10:65379435G>C uc001jmt.3 + 6 769 c.586G>C c.(586-588)Gac>Cac p.D196H NM_001001330 NP_001001330 Q6NUK4 REEP3_HUMAN Homo sapiens receptor accessory protein 3 (REEP3), mRNA. 196 integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TCCACTGAAAGACGGAGATGA 0.428000 3 15 0 0 1 0 0 RTCA 8634 broad.mit.edu 37 1 100752669 100752669 + Missense_Mutation SNP G G C TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:100752669G>C uc001dtd.3 + 10 1166 c.948G>C c.(946-948)atG>atC p.M316I RTCA_uc001dtc.3_Missense_Mutation_p.M303I NM_001130841 NP_001124313 O00442 RTC1_HUMAN Homo sapiens RNA terminal phosphate cyclase domain 1 (RTCD1), transcript variant 1, mRNA. 303 RNA processing mitochondrion|nucleoplasm ATP binding|RNA binding|RNA-3'-phosphate cyclase activity|protein binding TTGTTTTCATGGCATTAGCCA 0.338000 3 80 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230203102 230203102 + Frame_Shift_Del DEL G G - TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr1:230203102delG uc010pwa.1 + 0 147 c.75delG c.(73-75)tcgfs p.S25fs GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Non-coding_Transcript NM_004481 NP_004472 Q10471 GALT2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. 25 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACATGTACTCGGGGGGCGGCT 0.771 2 4 --- --- --- --- FAM83A 84985 broad.mit.edu 37 8 124219784 124219784 + Frame_Shift_Del DEL G G - TCGA-E8-A2EA-01A-11D-A17V-08 TCGA-E8-A2EA-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5cab1bb-ba14-4072-84f9-e3d3eaa2046f 6c7bc841-870d-438c-9692-1e6660eceb58 g.chr8:124219784delG uc003ypv.3 + 4 3175 c.1161delG c.(1159-1161)ccgfs p.P387fs FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Frame_Shift_Del_p.P387fs|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 387 Pro-rich. breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ACCTCTCCCCGCGGCCCCACG 0.766 2 4 --- --- --- ---