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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut FAT3 120114 broad.mit.edu 37 11 92523221 92523221 + Missense_Mutation SNP A C C TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr11:92523221A>C uc001pdj.4 + 6 4465 c.4448A>C c.(4447-4449)gAa>gCa p.E1483A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1483 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGCAGATTGAAGCCACAGAT 0.473000 TCGA Ovarian(4;0.039) 184 127 0 0 0.000781405 0 0 GABRE 2564 broad.mit.edu 37 X 151128359 151128359 + Missense_Mutation SNP C A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chrX:151128359C>A uc004ffi.3 - 5 790 c.736G>T c.(736-738)Gat>Tat p.D246Y GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 246 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.A246V(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CCTGTAAAATCAAACTGGAAG 0.443000 64 31 2.80507e-11 1.78258e-10 0.000409698 1 0 HJURP 55355 broad.mit.edu 37 2 234749833 234749833 + Missense_Mutation SNP G T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr2:234749833G>T uc002vvg.3 - 7 1659 c.1593C>A c.(1591-1593)caC>caA p.H531Q HJURP_uc010znd.2_Missense_Mutation_p.H470Q|HJURP_uc010zne.2_Missense_Mutation_p.H439Q NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 531 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GAGTTGCGCTGTGTGTGGGGT 0.488000 36 27 0.000117367 0.000680038 0.000878237 1 0 OR2B11 127623 broad.mit.edu 37 1 247614382 247614382 + Missense_Mutation SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr1:247614382C>T uc010pyx.2 - 0 903 c.903G>A c.(901-903)atG>atA p.M301I NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAGCCCCCTTCATATCTTTAT 0.468000 168 71 0 0 0.000781405 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177411 89177411 + Silent SNP C A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chrX:89177411C>A uc022bzr.1 + 0 327 c.327C>A c.(325-327)ctC>ctA p.L109L TGIF2LX_uc004efe.3_Silent_p.L109L NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA. 109 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 GACGCATTCTCCCGGATATGC 0.502000 62 35 1.32136e-16 8.9761e-16 0.00195071 1 0 SNX16 64089 broad.mit.edu 37 8 82714665 82714665 + Silent SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr8:82714665C>T uc003ycn.3 - 6 1149 c.888G>A c.(886-888)gtG>gtA p.V296V SNX16_uc003yco.3_Silent_p.V267V|SNX16_uc011lft.2_Silent_p.V296V NM_152836 NP_690049 P57768 SNX16_HUMAN Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA. 296 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding p.V296M(1) large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 CAGAGGACTCCACCTTTAGGA 0.343000 14 10 0 0 0.000442599 0 0 MBTD1 54799 broad.mit.edu 37 17 49279428 49279428 + Silent SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:49279428C>T uc002itr.4 - 10 1418 c.1074G>A c.(1072-1074)aaG>aaA p.K358K MBTD1_uc002itp.4_Silent_p.K194K|MBTD1_uc002itq.4_Silent_p.K358K NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN Homo sapiens mbt domain containing 1 (MBTD1), mRNA. 358 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CATCCTGTTTCTTTGTAATAT 0.343000 31 12 0 0 0.000308642 0 0 MAP1B 4131 broad.mit.edu 37 5 71491677 71491677 + Missense_Mutation SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr5:71491677C>T uc003kbw.4 + 4 2736 c.2495C>T c.(2494-2496)tCt>tTt p.S832F MAP1B_uc010iyw.1_Missense_Mutation_p.S849F|MAP1B_uc010iyx.1_Missense_Mutation_p.S706F|MAP1B_uc010iyy.1_Missense_Mutation_p.S706F NM_005909 NP_005900 P46821 MAP1B_HUMAN Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA. 832 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTTATGTCATCTCCTGAGGAT 0.522000 54 6 0 0 0.00116845 0 0 GRM3 2913 broad.mit.edu 37 7 86468997 86468997 + Missense_Mutation SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr7:86468997C>T uc003uid.3 + 3 3266 c.2167C>T c.(2167-2169)Cgg>Tgg p.R723W GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.R595W|GRM3_uc010leh.3_Missense_Mutation_p.R315W NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 723 synaptic transmission integral to plasma membrane p.R723W(2) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCAGAGAAGCGGGAAACAGT 0.493000 10 30 0 0 0.00106085 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516880 140516880 + Missense_Mutation SNP G A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr5:140516880G>A uc003liq.3 + 0 2081 c.1864G>A c.(1864-1866)Gag>Aag p.E622K NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 622 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.G621G(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACAATGGCGAGGTGCGCAC 0.706000 23 27 0 0 0.000878237 0 0 NLRP13 126204 broad.mit.edu 37 19 56423975 56423975 + Missense_Mutation SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr19:56423975C>T uc010ygg.2 - 4 1233 c.1208G>A c.(1207-1209)aGt>aAt p.S403N NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 403 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTCAACTTCACTTGAGTCATC 0.443000 36 25 0 0 0.00047179 0 0 DCDC5 100506627 broad.mit.edu 37 11 30944050 30944050 + Splice_Site SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr11:30944050C>T uc009yjk.1 - 12 1546 c.1477_splice c.e12+1 p.A493_splice DCDC5_uc001mss.1_Splice_Site|DCDC5_uc021qfk.1_Splice_Site_p.A152_splice NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 124 Doublecortin 2. intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 CAATGCTTACCTTCTATTTTA 0.308000 32 20 0 0 0.00152264 0 0 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G C C TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr12:31237922G>C uc001rjt.1 + 4 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA. 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding p.R167T(18) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612000 Multiple Myeloma(12;0.14) 16 3 0 0 6.4e-05 0 0 TMEM139 135932 broad.mit.edu 37 7 142983274 142983274 + Missense_Mutation SNP C A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr7:142983274C>A uc003wcl.3 + 3 478 c.224C>A c.(223-225)cCa>cAa p.P75Q CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Missense_Mutation_p.P75Q|TMEM139_uc010lov.3_Missense_Mutation_p.P75Q|TMEM139_uc003wck.4_Missense_Mutation_p.P75Q|TMEM139_uc003wcn.3_Intron|TMEM139_uc022aod.1_Intron|TMEM139_uc003wcm.3_Missense_Mutation_p.P75Q NM_001242774 NP_001229703 Q8IV31 TM139_HUMAN Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA. 75 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) ACTGAGAGCCCAGGGCCCTCA 0.557000 32 18 2.4624e-09 1.51591e-08 0.00121646 1 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14439185 14439185 + RNA SNP C A A rs112098339 TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr21:14439185C>A uc002yja.4 + 9 c.2703C>A Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. TGACTTTAAACCAAGAAGAAG 0.269000 23 8 0.000274275 0.00154378 0.000274275 1 0 MYO3A 53904 broad.mit.edu 37 10 26463096 26463097 + Missense_Mutation DNP GG AA AA TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr10:26463096_26463097GG>AA uc001isn.2 + 29 4263_4264 c.3903_3904GG>AA c.(3901-3906)atggaa>atAAaa p.1301_1302ME>IK MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1301 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAACAGCATGGAAAAAGAAAA 0.450000 17 23 0 0 6.4e-05 0 0 HSF5 124535 broad.mit.edu 37 17 56565264 56565264 + Silent SNP G A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:56565264G>A uc002iwi.1 - 0 496 c.372C>T c.(370-372)ctC>ctT p.L124L NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA. 124 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGAGGTGCACGAGCAGCTGTG 0.711000 43 5 0 0 0.000157383 0 0 CD19 930 broad.mit.edu 37 16 28943670 28943670 + Missense_Mutation SNP G A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr16:28943670G>A uc010byo.2 + 1 154 c.92G>A c.(91-93)gGa>gAa p.G31E NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.G31E NM_001178098 NP_001171569 P15391 CD19_HUMAN Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA. 31 Ig-like C2-type 1. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity p.G31R(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 TCCACAGAGGGAGATAACGCT 0.592000 14 11 0 0 0.000673444 0 0 CELSR2 1952 broad.mit.edu 37 1 109804140 109804140 + Missense_Mutation SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr1:109804140C>T uc001dxa.4 + 3 4248 c.4187C>T c.(4186-4188)gCc>gTc p.A1396V NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 1396 Laminin G-like 1. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TTCAGGTTTGCCACAAAGGAG 0.602000 195 6 0 0 0.000274275 0 0 SENP2 59343 broad.mit.edu 37 3 185339666 185339666 + Missense_Mutation SNP A G G TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr3:185339666A>G uc003fpn.3 + 13 1670 c.1499A>G c.(1498-1500)aAg>aGg p.K500R SENP2_uc011brv.2_Missense_Mutation_p.K490R|SENP2_uc011brw.2_Missense_Mutation_p.K313R NM_021627 NP_067640 Q9HC62 SENP2_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA. 500 Protease. Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport cytoplasm|nuclear membrane|nuclear pore SUMO-specific protease activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) ATGGGACAAAAGGGCCACAGG 0.388000 216 4 0 0 0.000602214 0 0 GPR112 139378 broad.mit.edu 37 X 135427555 135427555 + Missense_Mutation SNP T A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chrX:135427555T>A uc004ezu.1 + 5 1981 c.1690T>A c.(1690-1692)Tca>Aca p.S564T GPR112_uc010nsb.1_Missense_Mutation_p.S359T|GPR112_uc010nsc.1_Missense_Mutation_p.S331T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 564 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AACATCCTTTTCATTTACTGG 0.418000 46 12 0 0 0.00136819 0 0 FAM134C 162427 broad.mit.edu 37 17 40761321 40761321 + Missense_Mutation SNP G C C TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:40761321G>C uc002ial.2 - 0 125 c.22C>G c.(22-24)Ccc>Gcc p.P8A TUBG1_uc002ian.3_5'Flank|FAM134C_uc010wgq.1_5'UTR|FAM134C_uc002iam.1_5'UTR|FAM134C_uc010cyk.1_Intron NM_178126 NP_835227 Q86VR2 F134C_HUMAN Homo sapiens family with sequence similarity 134, member C (FAM134C), transcript variant 1, mRNA. 8 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) GGGGTCGTGGGAACCCCTTCG 0.687000 33 13 0 0 0.000219431 0 0 SERPINA13 388007 broad.mit.edu 37 14 95111314 95111314 + Missense_Mutation SNP C A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr14:95111314C>A uc001ydt.3 + 3 1134 c.1046C>A c.(1045-1047)cCc>cAc p.P349H Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA. endometrium(1)|large_intestine(1)|lung(9)|skin(1) 12 TTCCACTTCCCCAAATTTTCC 0.522000 18 19 7.45023e-12 4.89231e-11 0.00152264 1 0 AIRE 326 broad.mit.edu 37 21 45709924 45709924 + Silent SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr21:45709924C>T uc002zei.2 + 6 979 c.852C>T c.(850-852)gcC>gcT p.A284A AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank NM_000383 NP_000374 O43918 AIRE_HUMAN Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA. 284 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) CCCCTCTGGCCCTCCCCAGTG 0.687000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 16 7 0 0 0.000442599 0 0 SC5DL 6309 broad.mit.edu 37 11 121178150 121178150 + Missense_Mutation SNP C T T rs118099079 by1000genomes TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr11:121178150C>T uc001pxu.3 + 4 977 c.829C>T c.(829-831)Cgc>Tgc p.R277C SC5DL_uc001pxt.3_3'UTR|SC5DL_uc001pxv.3_Missense_Mutation_p.R277C NM_006918 NP_008849 O75845 SC5D_HUMAN Homo sapiens sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like (SC5DL), transcript variant 1, mRNA. 277 PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|skin(1) 13 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) AGAGGGAAAGCGCAGCAGCCA 0.413000 23 11 0 0 0.000978159 0 0 ADAM20 8748 broad.mit.edu 37 14 70991372 70991372 + Missense_Mutation SNP G T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr14:70991372G>T uc021rvs.1 - 0 253 c.253C>A c.(253-255)Cag>Aag p.Q85K ADAM20_uc001xme.3_Missense_Mutation_p.Q85K NM_003814 NP_003805 O43506 ADA20_HUMAN Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA. 35 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GTGAAATACTGGGAGGGCCTG 0.557000 11 13 2.27111e-07 1.35578e-06 0.00136819 1 0 KRT10 3858 broad.mit.edu 37 17 38976882 38976882 + Missense_Mutation SNP C T T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:38976882C>T uc002hvi.3 - 2 774 c.748G>A c.(748-750)Gct>Act p.A250T TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN Homo sapiens keratin 10 (KRT10), mRNA. 250 Coil 1B.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) TTGATGTCAGCCTCCACGCTC 0.507000 31 23 0 0 0.000375601 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 10 32 0 0 0.000953801 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14439208 14439208 + RNA SNP A G G TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr21:14439208A>G uc002yja.4 + 9 c.2726A>G Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. AAGAGAAGAAATGCCAATATA 0.299000 23 8 0 0 0.000157383 0 0 C5orf38 153571 broad.mit.edu 37 5 2752737 2752742 + In_Frame_Del DEL TTTGTG - - TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr5:2752737_2752742delTTTGTG uc003jdc.3 + 1 319_324 c.202_207delTTTGTG c.(202-207)tttgtgdel p.FV68del C5orf38_uc011cmg.2_In_Frame_Del_p.FV68del|C5orf38_uc011cmh.2_Intron|C5orf38_uc011cmi.2_Intron|C5orf38_uc011cmj.2_Intron NM_178569 NP_848664 Q86SI9 CEI_HUMAN Homo sapiens chromosome 5 open reading frame 38 (C5orf38), mRNA. 68 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) CTCTTTCAGATTTGTGTTGTCAAAAC 0.490 --- 87 --- --- 24 --- C7orf65 401335 broad.mit.edu 37 7 47698645 47698646 + Frame_Shift_Ins INS - A A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr7:47698645_47698646insA uc010kyp.1 + 2 310_311 c.275_276insA c.(274-276)ggafs p.G92fs NM_001123065 NP_001116537 Q6ZTY9 CG065_HUMAN Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA. 92 endometrium(1)|lung(2) 3 AATTCATGTGGAATCACCCTAG 0.515 --- 58 --- --- 34 --- ARFGEF1 10565 broad.mit.edu 37 8 68152466 68152468 + In_Frame_Del DEL AGT - - TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr8:68152466_68152468delAGT uc003xxo.2 - 19 3298_3300 c.2908_2910delACT c.(2908-2910)actdel p.T970del ARFGEF1_uc003xxl.1_In_Frame_Del_p.T424del|ARFGEF1_uc003xxn.2_5'UTR NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 970 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGGCTACTTCAGTATCATCACAA 0.360 --- 78 --- --- 25 --- DLG4 1742 broad.mit.edu 37 17 7096904 7096917 + Splice_Site DEL CTGCAGAGAGAGCC - - TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:7096904_7096917delCTGCAGAGAGAGCC uc010vtn.2 - 15 1672 c.1412_splice c.e15-1 p.V471_splice DLG4_uc010vtm.2_Splice_Site|DLG4_uc010cly.3_Splice_Site_p.V528_splice|DLG4_uc002get.4_Splice_Site_p.V574_splice|DLG4_uc010vto.2_Splice_Site_p.V571_splice NM_001128827 NP_001122299 P78352 DLG4_HUMAN Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA. 531 SH3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein C-terminus binding|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCATAGTGCACTGCAGAGAGAGCCTGGCTTAGGC 0.612 --- 11 --- --- 5 ---