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 XRN1 54464 broad.mit.edu 37 3 142133126 142133126 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr3:142133126G>A uc003eus.3 - 13 1511 c.1444C>T c.(1444-1446)Cct>Tct p.P482S XRN1_uc010huu.3_5'Flank|XRN1_uc003eut.3_Missense_Mutation_p.P482S|XRN1_uc003euu.3_Missense_Mutation_p.P482S|XRN1_uc003euv.1_Missense_Mutation_p.P343S NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 482 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TAATGATAAGGATAATACCTA 0.294000 27 51 0 0 1 0 0 FAM222A 84915 broad.mit.edu 37 12 110206377 110206377 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr12:110206377G>A uc001tpd.2 + 2 1205 c.643G>A c.(643-645)Gcc>Acc p.A215T FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron NM_032829 NP_116218 Q5U5X8 CL034_HUMAN Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA. 215 Pro-rich. GGCCCCGGGCGCCGCACCCCC 0.711000 6 71 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79683052 79683052 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr17:79683052G>A uc010wut.2 + 8 988 c.856G>A c.(856-858)Gtg>Atg p.V286M SLC25A10_uc002kbi.3_Missense_Mutation_p.V131M|SLC25A10_uc010dif.3_Missense_Mutation_p.V131M|SLC25A10_uc010wuu.2_Missense_Mutation_p.V85M NM_012140 NP_036272 Q9UBX3 DIC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA. 131 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) GCAGAACGACGTGAAGCTGCC 0.701000 7 14 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095889 167095889 + Silent SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:167095889G>A uc001geb.1 + 4 1537 c.1521G>A c.(1519-1521)agG>agA p.R507R NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 507 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGGCAGACAGGAGCTCAGAAG 0.597000 22 51 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100504662 100504662 + Silent SNP A A C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr4:100504662A>C uc011cej.2 + 2 475 c.462A>C c.(460-462)ctA>ctC p.L154L MTTP_uc003hvc.4_Silent_p.L127L|MTTP_uc003hvb.3_Silent_p.L127L NM_000253 NP_000244 P55157 MTP_HUMAN Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA. 127 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TCCTTCATCTAATCCATGGAA 0.388000 4 78 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74003919 74003919 + Silent SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr17:74003919T>C uc010wss.1 - 21 5661 c.5433A>G c.(5431-5433)tcA>tcG p.S1811S EVPL_uc002jqi.2_Silent_p.S1789S|EVPL_uc010wst.1_Silent_p.S1259S NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1789 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGATGGAGAGTGAGGAGCTTG 0.607000 4 74 0 0 1 0 0 ADAT1 23536 broad.mit.edu 37 16 75634205 75634205 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr16:75634205G>A uc002feo.2 - 10 1587 c.1418C>T c.(1417-1419)gCg>gTg p.A473V ADAT1_uc002fep.2_Missense_Mutation_p.A324V NM_012091 NP_036223 Q9BUB4 ADAT1_HUMAN Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA. 473 A to I editase. tRNA processing RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity p.A473V(2) breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 GTAAGAGGACGCAGCCTCCTT 0.532000 31 72 0 0 1 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864558 102864558 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chrX:102864558G>A uc004ekq.3 + 2 828 c.566G>A c.(565-567)aGg>aAg p.R189K TCEAL3_uc004ekr.3_Missense_Mutation_p.R189K|TCEAL3_uc022cbu.1_Missense_Mutation_p.R189K NM_001006933 NP_116315 Q969E4 TCAL3_HUMAN Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 1, mRNA. 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 GGTGGAGGTAGGGGCCAGAGG 0.507000 12 190 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754115 76754115 + Silent SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr18:76754115G>A uc002lmt.3 + 1 2124 c.2124G>A c.(2122-2124)aaG>aaA p.K708K SALL3_uc010dra.3_Silent_p.K315K NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 708 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCCGTTCAAGTGCAAGATCT 0.667000 27 37 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32371461 32371461 + Missense_Mutation SNP C C A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr13:32371461C>A uc001utt.3 + 16 1981 c.1910C>A c.(1909-1911)gCa>gAa p.A637E RXFP2_uc010aba.3_Missense_Mutation_p.A613E NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 637 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GTGGCTGTTGCAAATCGTTTC 0.398000 15 91 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77408244 77408244 + Missense_Mutation SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr7:77408244T>C uc010ldt.1 + 7 2344 c.2300T>C c.(2299-2301)gTg>gCg p.V767A NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA. 767 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAAGAACCTGTGAATGTTAAT 0.308000 4 34 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4523617 4523617 + Missense_Mutation SNP C C G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr19:4523617C>G uc002mas.3 - 7 1368 c.1315G>C c.(1315-1317)Ggg>Cgg p.G439R NM_001013706 NP_001013728 Q00G26 PLIN5_HUMAN Homo sapiens perilipin 5 (PLIN5), mRNA. 439 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CAGATGTCCCCGGCAACACCC 0.692000 OREG0025168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 76 157 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90471411 90471411 + Missense_Mutation SNP G G C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr6:90471411G>C uc003pnn.1 - 16 2529 c.2413C>G c.(2413-2415)Caa>Gaa p.Q805E MDN1_uc003pno.1_Missense_Mutation_p.Q223E NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 805 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.Q804H(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCATCTGTTGTTGGGCATGG 0.328000 3 107 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189871146 189871146 + Missense_Mutation SNP C C G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr2:189871146C>G uc002uqj.1 + 42 3286 c.3169C>G c.(3169-3171)Cca>Gca p.P1057A NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1057 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCCTGTCGGTCCAGCTGGAAA 0.488000 4 25 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33959841 33959841 + Missense_Mutation SNP G G C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:33959841G>C uc001bxj.4 + 7 2064 c.1897G>C c.(1897-1899)Gaa>Caa p.E633Q ZSCAN20_uc009vui.3_Missense_Mutation_p.E632Q NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 633 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GCATGAGGATGAAGACCAGAT 0.438000 13 40 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234569236 234569236 + Missense_Mutation SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:234569236T>C uc001hwd.3 - 13 2314 c.2314A>G c.(2314-2316)Agg>Ggg p.R772G NM_005646 NP_005637 Q13395 TARB1_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. 772 RNA processing|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GGGTTACCCCTTTTCCACCCA 0.398000 3 63 0 0 1 0 0 CCDC106 29903 broad.mit.edu 37 19 56160648 56160648 + Missense_Mutation SNP C C G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr19:56160648C>G uc002qlr.3 + 2 844 c.109C>G c.(109-111)Ctg>Gtg p.L37V CCDC106_uc021vcc.1_Missense_Mutation_p.L37V|CCDC106_uc021vcd.1_Missense_Mutation_p.L37V|CCDC106_uc002qls.3_Missense_Mutation_p.L37V NM_013301 NP_037433 Q9BWC9 CC106_HUMAN Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA. 37 nucleus endometrium(2)|large_intestine(3)|lung(5)|skin(1) 11 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CTTTTACAGTCTGAGCCCCTC 0.592000 3 150 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55964962 55964962 + Missense_Mutation SNP C C T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr4:55964962C>T uc003has.3 - 15 2577 c.2275G>A c.(2275-2277)Gaa>Aaa p.E759K KDR_uc003hat.1_Missense_Mutation_p.E759K NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 759 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTCGTCTTTTCCTGGGCACCT 0.408000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 4 55 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55341608 55341608 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr19:55341608G>A uc021vbm.1 + 8 1246 c.1213G>A c.(1213-1215)Gtt>Att p.V405I KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010esf.3_Missense_Mutation_p.V310I|KIR3DL2_uc021vbo.1_Missense_Mutation_p.V388I|KIR3DL2_uc002qhk.4_Missense_Mutation_p.V405I|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank|KIR3DL2_uc002qhm.1_5'Flank NM_013289 NP_037421 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 405 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGATCACTGCGTTTTCACACA 0.507000 93 152 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175446092 175446092 + Missense_Mutation SNP C C A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr2:175446092C>A uc010fqt.1 - 2 291 c.127G>T c.(127-129)Ggg>Tgg p.G43W BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.G43W|WIPF1_uc002ujc.1_Missense_Mutation_p.G43W|WIPF1_uc002uiz.3_Missense_Mutation_p.G43W|WIPF1_uc002ujb.2_Missense_Mutation_p.G43W|WIPF1_uc010zep.1_Missense_Mutation_p.G43W NM_003387 NP_003378 O43516 WIPF1_HUMAN Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA. 43 WH2. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 AGTTTCTTCCCTTTGCTGATA 0.438000 6 223 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42169608 42169608 + Missense_Mutation SNP G G C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr17:42169608G>C uc002iff.1 - 8 1299 c.967C>G c.(967-969)Ccc>Gcc p.P323A HDAC5_uc002ifd.1_Missense_Mutation_p.P322A|HDAC5_uc002ife.1_Missense_Mutation_p.P322A|HDAC5_uc010czp.1_Missense_Mutation_p.P322A|HDAC5_uc002ifh.2_Missense_Mutation_p.P322A NM_001015053 NP_001015053 Q9UQL6 HDAC5_HUMAN Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA. 322 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) GAGCTGTTGGGAGAGCTGGGG 0.642000 3 97 0 0 1 0 0 CRP 1401 broad.mit.edu 37 1 159683629 159683629 + Missense_Mutation SNP C C T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:159683629C>T uc001ftw.3 - 1 465 c.361G>A c.(361-363)Gcc>Acc p.A121T CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 121 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) ATCCCTGAGGCGGACTCCCAG 0.502000 41 184 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45392355 45392355 + Missense_Mutation SNP T T G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr15:45392355T>G uc001zun.3 - 23 3280 c.3077A>C c.(3076-3078)cAa>cCa p.Q1026P DUOX2_uc010bea.3_Missense_Mutation_p.Q1026P NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1026 Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTGCAGCTTTTGGGCTAGGAA 0.587000 3 78 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2407561 2407561 + Silent SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chrX:2407561G>A uc004cqh.2 - 1 1482 c.1200C>T c.(1198-1200)ctC>ctT p.L400L DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqg.2_Silent_p.L400L|ZBED1_uc022brw.1_Silent_p.L400L|ZBED1_uc022brx.1_Silent_p.L400L NM_001171135 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 3, mRNA. 400 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGGGCTGCAGGAGCTCCACCA 0.637000 17 63 0 0 1 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5534909 5534909 + Missense_Mutation SNP A A G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr9:5534909A>G uc011lmc.2 + 2 493 c.220A>G c.(220-222)Act>Gct p.T74A PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Missense_Mutation_p.T74A|PDCD1LG2_uc011lmd.2_Missense_Mutation_p.T74A|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.T74A|PDCD1LG2_uc010mho.1_Missense_Mutation_p.T74A NM_025239 NP_079515 Q9BQ51 PD1L2_HUMAN Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA. 74 Ig-like V-type. T cell costimulation|immune response endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) TGAAAGAGCCACTTTGCTGGA 0.493000 23 43 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 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 22 36 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201264 24201264 + Missense_Mutation SNP C C A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:24201264C>A uc001bif.3 - 1 971 c.844G>T c.(844-846)Gct>Tct p.A282S CNR2_uc021oij.1_Missense_Mutation_p.A282S NM_001841 NP_001832 P34972 CNR2_HUMAN Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA. 282 G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity p.A282T(3)|p.A282A(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GAGCAGAAAGCAAAGGCCTTC 0.577000 23 57 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263052 248263052 + Silent SNP C C T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:248263052C>T uc001ids.3 + 2 712 c.375C>T c.(373-375)atC>atT p.I125I OR2L13_uc021pmc.1_Silent_p.I125I NM_175911 NP_787107 Q8N349 OR2LD_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA. 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.A124D(1)|p.A124T(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ATTTGGCCATCTGCCACTCTC 0.502000 4 216 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432306 117432306 + Missense_Mutation SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr7:117432306T>C uc003vjf.3 - 3 1036 c.944A>G c.(943-945)aAt>aGt p.N315S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 315 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTGGTCAGCATTTTCTGTCAC 0.473000 5 243 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48459614 48459614 + Missense_Mutation SNP G G C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr3:48459614G>C uc003csw.2 - 14 3478 c.3208C>G c.(3208-3210)Ccc>Gcc p.P1070A PLXNB1_uc003csu.2_Missense_Mutation_p.P887A|PLXNB1_uc003csx.2_Missense_Mutation_p.P1070A|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 1070 IPT/TIG 1. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGGATGAGGGGCGCTGGGCAC 0.657000 3 21 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106733181 106733181 + RNA SNP A A T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr14:106733181A>T uc021ser.1 - 876 c.21365T>A Parts of antibodies, mostly variable regions. CTCAGATCTCAGGCTGCTCAG 0.527000 12 374 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154190917 154190918 + Splice_Site INS - - T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr5:154190917_154190918insT uc003lvo.3 + 17 2746 c.2722_splice c.e17+1 p.G908_splice LARP1_uc021ygh.1_Splice_Site_p.G780_splice NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. 985 RNA binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TATGAAGCTGGTAAGAGCCAGA 0.490 24 44 --- --- --- ---