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 ESYT2 57488 broad.mit.edu 37 7 158557460 158557460 + Missense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:158557460C>G ENST00000251527.5 - 9 1218 c.1153G>C c.(1153-1155)Gac>Cac p.D385H NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 413 C2 1. integral to membrane|plasma membrane p.D385H(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CCATAGGGGTCTGACTTTCCC 0.433000 41 323 0 0 1 0 0 BANF2 140836 broad.mit.edu 37 20 17716422 17716422 + Missense_Mutation SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr20:17716422A>C ENST00000246090.5 + 4 501 c.239A>C c.(238-240)cAc>cCc p.H80P BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000377805.3_Missense_Mutation_p.H80P|BANF2_ENST00000467330.1_3'UTR NM_178477.4 NP_848572.3 Q9H503 BAFL_HUMAN barrier to autointegration factor 2 80 cytoplasm|nucleus DNA binding p.H80P(1) large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 CAGACTTCTCACTGCCTCAAG 0.542000 37 86 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38618225 38618225 + Silent SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:38618225G>A ENST00000413689.1 - 19 3631 c.3438C>T c.(3436-3438)aaC>aaT p.N1146N SCN5A_ENST00000425664.1_Silent_p.N1146N|SCN5A_ENST00000414099.2_Silent_p.N1146N|SCN5A_ENST00000455624.2_Silent_p.N1145N|SCN5A_ENST00000451551.2_Silent_p.N1092N|SCN5A_ENST00000333535.4_Silent_p.N1146N|SCN5A_ENST00000450102.2_Silent_p.N1092N|SCN5A_ENST00000449557.2_Silent_p.N1092N|SCN5A_ENST00000443581.1_Silent_p.N1145N|SCN5A_ENST00000423572.2_Silent_p.N1145N NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1146 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.N1146N(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCTCAGCGGTGTTGGTCATGT 0.617000 3 24 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132198111 132198111 + Missense_Mutation SNP T T C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:132198111T>C ENST00000260818.6 + 25 2998 c.2750T>C c.(2749-2751)cTt>cCt p.L917P NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 917 heat shock protein binding p.L917P(1)|p.L300P(1) breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ATTCTCTTCCTTAACAAGTTG 0.303000 15 153 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5948526 5948526 + Translation_Start_Site SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr10:5948526G>A ENST00000397269.3 + 0 853 FBXO18_ENST00000362091.4_Silent_p.P228P|FBXO18_ENST00000379999.5_Silent_p.P279P|FBXO18_ENST00000470089.1_3'UTR NM_001258452.1 NP_001245381.1 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.P279P(1) NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 CCTTCCTCCCGGTGGAAGACC 0.567000 42 138 0 0 1 0 0 GBE1 2632 broad.mit.edu 37 3 81695585 81695585 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:81695585G>A ENST00000429644.2 - 6 1383 c.740C>T c.(739-741)gCc>gTc p.A247V GBE1_ENST00000489715.1_Missense_Mutation_p.A206V NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 247 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.A247V(2) breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) ACCAAAGCTGGCATAGTAAGC 0.338000 Glycogen Storage Disease, type IV 54 111 0 0 1 0 0 TSTA3 7264 broad.mit.edu 37 8 144696809 144696809 + Missense_Mutation SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr8:144696809A>C ENST00000425753.2 - 5 552 c.449T>G c.(448-450)aTc>aGc p.I150S TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 150 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity p.I150S(1) breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) CTGCACGTCGATCATCCTCTT 0.662000 27 119 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100775172 100775172 + Silent SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:100775172G>A ENST00000223095.4 + 4 679 c.522G>A c.(520-522)ttG>ttA p.L174L SERPINE1_ENST00000445463.2_Silent_p.L159L NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 174 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity p.L174L(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TCAGCAACTTGCTTGGGAAAG 0.498000 19 311 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072056 34072056 + Silent SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr17:34072056C>A ENST00000254466.6 - 6 2487 c.2460G>T c.(2458-2460)ctG>ctT p.L820L GAS2L2_ENST00000587565.1_Silent_p.L804L NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 820 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTTGCTGCCCAGCACAGCTC 0.622000 5 232 1.23904e-05 1.27716e-05 1 1 0 VAV3 10451 broad.mit.edu 37 1 108417620 108417620 + Missense_Mutation SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:108417620A>C ENST00000370056.4 - 2 498 c.224T>G c.(223-225)aTa>aGa p.I75R VAV3_ENST00000371846.4_Missense_Mutation_p.I10R|VAV3_ENST00000527011.1_Missense_Mutation_p.I75R NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 75 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.I75R(2) NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) AAATGTCCTTATGTTCTTCAA 0.398000 48 104 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35185937 35185937 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:35185937G>A ENST00000156471.5 - 23 2723 c.2498C>T c.(2497-2499)gCa>gTa p.A833V NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 833 catalytic step 2 spliceosome RNA binding p.A833V(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GATCTGAACTGCCACATCTGT 0.413000 70 144 0 0 1 0 0 C7orf60 154743 broad.mit.edu 37 7 112555403 112555403 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:112555403G>C ENST00000297145.4 - 2 425 c.260C>G c.(259-261)gCa>gGa p.A87G C7orf60_ENST00000485446.1_5'UTR NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 87 p.A87G(1) breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 ACAAGTTTTTGCCCAATGATT 0.363000 49 147 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141567320 141567320 + Silent SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr8:141567320C>T ENST00000220592.5 - 8 1006 c.894G>A c.(892-894)caG>caA p.Q298Q AGO2_ENST00000519980.1_Silent_p.Q298Q NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 p.Q298Q(2) GCCCGCTCTCCTGCTGCAGCG 0.592000 6 286 0 0 1 0 0 ZBTB43 23099 broad.mit.edu 37 9 129595973 129595973 + Silent SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr9:129595973C>T ENST00000373464.4 + 3 1449 c.1185C>T c.(1183-1185)ctC>ctT p.L395L ZBTB43_ENST00000373457.1_Silent_p.L395L|ZBTB43_ENST00000449886.1_Silent_p.L395L NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L395L(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCATGCACCTCGGTCTTCGGC 0.498000 71 124 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74421957 74421957 + Silent SNP G G T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr11:74421957G>T ENST00000376332.3 - 4 865 c.369C>A c.(367-369)atC>atA p.I123I CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.I123I NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 123 VWFC 2. cartilage development|cell differentiation|ossification extracellular region|mitochondrion p.I123I(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) GGGCACTGAAGATCTCTCCGT 0.622000 6 54 8.12818e-05 8.31433e-05 1 1 0 ANO4 121601 broad.mit.edu 37 12 101473041 101473041 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr12:101473041G>C ENST00000392979.3 + 14 1639 c.1278G>C c.(1276-1278)tgG>tgC p.W426C ANO4_ENST00000392977.3_Missense_Mutation_p.W461C|ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000550015.1_Missense_Mutation_p.W28C NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 461 chloride channel complex chloride channel activity p.W426C(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TGATAGACTGGGAAGAAGAGG 0.433000 HNSCC(74;0.22) 63 159 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143043270 143043270 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:143043270C>A ENST00000343257.2 + 18 2297 c.2210C>A c.(2209-2211)gCc>gAc p.A737D NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 737 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.A737D(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TCTACTACTGCCCCTCTGTCC 0.597000 4 158 2.56e-06 2.65922e-06 1 1 0 TBC1D10C 374403 broad.mit.edu 37 11 67173158 67173158 + Silent SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr11:67173158G>A ENST00000312390.5 + 5 482 c.453G>A c.(451-453)tcG>tcA p.S151S TBC1D10C_ENST00000526387.1_Silent_p.S151S|TBC1D10C_ENST00000542590.1_Silent_p.S151S NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 151 Rab-GAP TBC. intracellular Rab GTPase activator activity p.S151S(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TGTTTGTGTCGCCTCAGGGCC 0.642000 40 83 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071592 9071592 + Missense_Mutation SNP G G T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr19:9071592G>T ENST00000397910.4 - 3 16057 c.15854C>A c.(15853-15855)cCc>cAc p.P5285H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5287 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P5285H(2)|p.P918H(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGTCCAAGGGAAGGGTACT 0.517000 44 117 4.14194e-30 4.91168e-30 1 1 0 VIL1 7429 broad.mit.edu 37 2 219305571 219305571 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr2:219305571C>T ENST00000248444.5 + 19 2444 c.2356C>T c.(2356-2358)Ccc>Tcc p.P786S VIL1_ENST00000392114.2_Missense_Mutation_p.P475S NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 786 HP.|Headpiece. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.P786S(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGTGTGGACCCCAGCAGGAA 0.537000 17 45 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26851603 26851603 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr17:26851603G>A ENST00000226247.2 + 2 235 c.206G>A c.(205-207)cGc>cAc p.R69H FOXN1_ENST00000579795.1_Missense_Mutation_p.R69H NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 69 R -> C (in dbSNP:rs2071587). defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.R69H(2) endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CACAGCCCCCGCATTGCGTCA 0.647000 51 111 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108614336 108614336 + Missense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr2:108614336C>G ENST00000264047.2 + 5 767 c.491C>G c.(490-492)tCt>tGt p.S164C SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 164 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.S164C(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) ATGCACATTTCTGTCATCATC 0.468000 174 372 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77702308 77702308 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr11:77702308G>C ENST00000534064.1 - 2 126 c.92C>G c.(91-93)aCa>aGa p.T31R INTS4_ENST00000529807.1_Missense_Mutation_p.T31R|INTS4_ENST00000527522.1_Missense_Mutation_p.T31R NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 31 snRNA processing integrator complex protein binding p.T31R(1) INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) ACTTGGTTTTGTTAGTCGGAG 0.443000 50 125 0 0 1 0 0 ADAD2 161931 broad.mit.edu 37 16 84229837 84229837 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr16:84229837G>A ENST00000268624.3 + 9 1726 c.1633G>A c.(1633-1635)Gcc>Acc p.A545T RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.A463T|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 463 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding p.A545T(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CGTCCGGACCGCCCTGCACCT 0.697000 71 94 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458475 20458475 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr22:20458475C>T ENST00000426804.1 - 1 3311 c.2827G>A c.(2827-2829)Ggg>Agg p.G943R NM_015672.1 NP_056487.1 RIMS binding protein 3 p.G943R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) TGGCACAGCCCTCTGTCCACC 0.577000 19 84 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885319 24885319 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr14:24885319G>C ENST00000382554.3 + 9 4682 c.4364G>C c.(4363-4365)tGg>tCg p.W1455S NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1455 DNA integration integral to membrane DNA binding p.W1455S(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GGTGGGCAGTGGTGGAGTTTG 0.592000 36 62 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184026525 184026525 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:184026525G>C ENST00000310118.4 + 21 3132 c.2574G>C c.(2572-2574)aaG>aaC p.K858N PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N|EIF2B5_ENST00000444495.1_Intron NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 858 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding p.K858N(1) breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) AGGCTGGCAAGCCGAAGACTA 0.547000 OREG0015948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 106 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35185970 35185970 + Missense_Mutation SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:35185970A>C ENST00000156471.5 - 23 2690 c.2465T>G c.(2464-2466)gTg>gGg p.V822G NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 822 catalytic step 2 spliceosome RNA binding p.V822G(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AGGTGGGCCCACAACCTAAAA 0.393000 41 123 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7818051 7818051 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr11:7818051C>A ENST00000329434.2 - 1 469 c.439G>T c.(439-441)Gct>Tct p.A147S RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A147S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGAAAACCAGCTATGTAAACT 0.403000 42 137 6.4771e-29 7.48217e-29 1 1 0 TAF1L 138474 broad.mit.edu 37 9 32632549 32632549 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr9:32632549G>A ENST00000242310.4 - 1 3118 c.3029C>T c.(3028-3030)aCa>aTa p.T1010I NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1010 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.T1010I(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTCTGCATCTGTTCCTGTCAC 0.458000 154 334 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70867982 70867982 + Missense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr16:70867982C>G ENST00000393567.2 - 79 13637 c.13487G>C c.(13486-13488)cGt>cCt p.R4496P NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4496 p.R4447P(1)|p.R4495P(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGGAGGGACACGCTTCTTCGG 0.552000 32 35 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77294750 77294750 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr14:77294750C>A ENST00000393774.3 + 2 329 c.205C>A c.(205-207)Ctg>Atg p.L69M C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M|C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M|C14orf166B_ENST00000460005.1_3'UTR NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 69 p.L69M(1) breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GGAAACAGACCTGGAGATTGA 0.532000 27 89 1.7881e-09 1.9323e-09 1 1 0 CSF3 1440 broad.mit.edu 37 17 38172080 38172080 + Silent SNP A A G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr17:38172080A>G ENST00000331769.2 + 1 381 c.165A>G c.(163-165)gcA>gcG p.A55A CSF3_ENST00000225474.2_Silent_p.A59A|CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000394149.3_Silent_p.A59A|CSF3_ENST00000394148.3_Silent_p.A59A P09919 CSF3_HUMAN colony stimulating factor 3 (granulocyte) 59 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity p.A55A(1) endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GCGATGGCGCAGCGCTCCAGG 0.642000 5 42 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143043271 143043271 + Silent SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:143043271C>A ENST00000343257.2 + 18 2298 c.2211C>A c.(2209-2211)gcC>gcA p.A737A NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 737 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.A737A(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTACTACTGCCCCTCTGTCCC 0.597000 4 156 2.56e-06 2.65922e-06 1 1 0 CEP63 80254 broad.mit.edu 37 3 134264447 134264447 + Missense_Mutation SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:134264447A>C ENST00000337090.3 + 7 748 c.575A>C c.(574-576)aAa>aCa p.K192T CEP63_ENST00000383229.3_Missense_Mutation_p.K192T|CEP63_ENST00000354446.3_Missense_Mutation_p.K192T|CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 192 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding p.K192T(1) kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GTCAATCGGAAACAGAAATTA 0.353000 34 119 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217604605 217604605 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:217604605C>T ENST00000366935.3 - 10 1579 c.1469G>A c.(1468-1470)gGc>gAc p.G490D NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 490 G-patch. intracellular nucleic acid binding p.G490D(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) GATCCCCTTGCCATCTCGTCC 0.478000 6 377 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23398392 23398392 + Missense_Mutation SNP T T A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr14:23398392T>A ENST00000397441.2 - 1 218 c.43A>T c.(43-45)Atc>Ttc p.I15F PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F|PRMT5_ENST00000553897.1_Intron NM_001039619.1 NP_001034708.1 O14744 ANM5_HUMAN protein arginine methyltransferase 5 0 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding p.I15F(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TTCTCCGGGATGACTAGTCTG 0.627000 41 91 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35185966 35185966 + Silent SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:35185966G>C ENST00000156471.5 - 23 2694 c.2469C>G c.(2467-2469)ggC>ggG p.G823G NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 823 catalytic step 2 spliceosome RNA binding p.G823G(2) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TACCAGGTGGGCCCACAACCT 0.398000 42 123 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1816093 1816093 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr16:1816093G>A ENST00000250894.4 + 21 2733 c.2576G>A c.(2575-2577)cGg>cAg p.R859Q MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R853Q NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 859 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding p.R859Q(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 AACGTGCCGCGGAGCAACTGC 0.662000 6 55 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65623027 65623027 + Missense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:65623027C>G ENST00000327987.4 - 10 1865 c.1614G>C c.(1612-1614)caG>caC p.Q538H NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 538 Fibronectin type-III 2. p.Q538H(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCCACAGCAGCTGCAAGGAGG 0.657000 9 22 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22690118 22690118 + Missense_Mutation SNP A A G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr10:22690118A>G ENST00000376603.2 + 9 1596 c.1454A>G c.(1453-1455)cAa>cGa p.Q485R RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R|SPAG6_ENST00000376624.3_Missense_Mutation_p.Q409R|SPAG6_ENST00000490361.1_3'UTR O75602 SPAG6_HUMAN sperm associated antigen 6 409 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding p.Q409R(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 AATATCCTGCAAAAATGTACC 0.348000 11 124 0 0 1 0 0 VWA9 81556 broad.mit.edu 37 15 65890710 65890710 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:65890710G>C ENST00000395644.4 - 6 1032 c.697C>G c.(697-699)Cct>Gct p.P233A VWA9_ENST00000431261.2_Missense_Mutation_p.P154A|VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A|VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A von Willebrand factor A domain containing 9 p.P233A(1) ACAACAAAAGGTTCTGGCCTG 0.363000 47 100 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97918959 97918959 + RNA SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr10:97918959G>C ENST00000534948.1 + 0 3737 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L960F(2) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CACTTCCATTGGTTAATTCAC 0.363000 55 262 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47039694 47039694 + Silent SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chrX:47039694C>G ENST00000377604.3 + 11 1888 c.1146C>G c.(1144-1146)gcC>gcG p.A382A RBM10_ENST00000345781.6_Silent_p.A305A|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Silent_p.A304A NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 382 RRM 2. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding p.A382A(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 TTGAGTTTGCCAAGGGTTCTA 0.632000 17 9 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2419086 2419086 + Nonsense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:2419086C>A ENST00000449969.1 + 8 1244 c.1083C>A c.(1081-1083)taC>taA p.Y361* PLCH2_ENST00000419816.2_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 388 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.Y388*(1)|p.Y235*(1) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) ACCATGGCTACACTCTGACTT 0.592000 5 64 1.024e-07 1.08902e-07 1 1 0 DST 667 broad.mit.edu 37 6 56341001 56341001 + Silent SNP T T C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr6:56341001T>C ENST00000370754.5 - 92 21716 c.21717A>G c.(21715-21717)aaA>aaG p.K7239K DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Silent_p.K6950K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000421834.2_Silent_p.K4973K Q03001 DYST_HUMAN dystonin 7059 EF-hand 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.K4647K(1)|p.K7061K(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGATGACTTCTTTATCCTTAT 0.423000 7 43 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12337950 12337950 + Missense_Mutation SNP T T G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:12337950T>G ENST00000358136.3 + 19 4435 c.4305T>G c.(4303-4305)aaT>aaG p.N1435K VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1435 protein localization p.N1435K(1) NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATTCTTTGAATTGCACCCAGT 0.498000 88 179 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785947 111785947 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr12:111785947G>A ENST00000261726.6 + 22 4433 c.4279G>A c.(4279-4281)Gcc>Acc p.A1427T NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1427 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A1427T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCCACCTGGCGCCCCCCCTGC 0.657000 12 121 0 0 1 0 0 EDN2 1907 broad.mit.edu 37 1 41948239 41948239 + Missense_Mutation SNP A A T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:41948239A>T ENST00000372587.4 - 3 311 c.242T>A c.(241-243)cTg>cAg p.L81Q EDN2_ENST00000490783.1_5'UTR NM_001956.3 NP_001947.1 P20800 EDN2_HUMAN endothelin 2 81 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity p.L81Q(1) endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGGGTTTCCCAGGCCGTAAGG 0.617000 7 20 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71514563 71514563 + Silent SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr14:71514563G>A ENST00000304743.2 + 22 4646 c.4200G>A c.(4198-4200)ttG>ttA p.L1400L PCNX_ENST00000439984.3_Silent_p.L1289L|PCNX_ENST00000238570.5_Silent_p.L1400L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1400 integral to membrane p.L1400L(1) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTTTGAAGTTGCTACGATCCT 0.373000 46 233 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197030932 197030932 + Missense_Mutation SNP T T C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:197030932T>C ENST00000367412.1 - 3 476 c.433A>G c.(433-435)Acc>Gcc p.T145A NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 145 Sushi 2. blood coagulation extracellular region p.T145A(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTCCTACAGGTTGGTTGAGAA 0.373000 36 79 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587856 247587856 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:247587856C>A ENST00000366497.2 + 4 1891 c.1111C>A c.(1111-1113)Ctg>Atg p.L371M NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M|NLRP3_ENST00000336119.3_Missense_Mutation_p.L371M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 371 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.L371M(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGTGGAGATCCTGGGTTTCTC 0.547000 58 129 1.4709e-25 1.65631e-25 1 1 0 SNRNP200 23020 broad.mit.edu 37 2 96970455 96970455 + Missense_Mutation SNP T T G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr2:96970455T>G ENST00000323853.5 - 2 274 c.197A>C c.(196-198)gAa>gCa p.E66A SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 66 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E66A(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 GGCTCTTCTTTCCTCCTGCAT 0.517000 41 105 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38946767 38946767 + Missense_Mutation SNP G G T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:38946767G>T ENST00000302328.3 - 11 1717 c.1519C>A c.(1519-1521)Ctg>Atg p.L507M SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M|SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 507 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.L507M(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAGTGGTCCAGTGATAGATTC 0.512000 85 190 4.64247e-43 5.60442e-43 1 1 0 FAM90A1 55138 broad.mit.edu 37 12 8374854 8374854 + Missense_Mutation SNP A A G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr12:8374854A>G ENST00000538603.1 - 7 1517 c.959T>C c.(958-960)aTc>aCc p.I320T FAM90A1_ENST00000307435.6_Missense_Mutation_p.I320T NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 320 nucleic acid binding|zinc ion binding p.I320T(1) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) ACCTCCCTGGATGGCGCTTTC 0.642000 4 47 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162577600 162577600 + Silent SNP A A G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr4:162577600A>G ENST00000306100.5 - 7 1210 c.774T>C c.(772-774)acT>acC p.T258T FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Silent_p.T257T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 258 Ig-like 1. extracellular region calcium ion binding p.T258T(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CAGTTGCTGCAGTGATGCTTA 0.398000 18 88 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186971086 186971086 + Missense_Mutation SNP T T G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:186971086T>G ENST00000337774.5 - 6 1151 c.762A>C c.(760-762)aaA>aaC p.K254N MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000495249.1_Intron NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 254 CUB 2.|Interaction with FCN2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity p.K254N(2)|p.K254K(2) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GCCCCAAAACTTTTGGACCAA 0.498000 159 436 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220348803 220348803 + Silent SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr2:220348803C>T ENST00000312358.7 + 30 6750 c.6618C>T c.(6616-6618)ccC>ccT p.P2206P SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2206 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.P2206P(2) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGCAGCCCCCCGCACCCCAGC 0.677000 32 44 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28269738 28269738 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr6:28269738G>C ENST00000405948.2 + 7 2527 c.2107G>C c.(2107-2109)Ggc>Cgc p.G703R PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 703 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.G703R(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CAATGCTGTGGGCATAGAACC 0.398000 24 251 0 0 1 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474214 99474214 + Nonsense_Mutation SNP G G T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:99474214G>T ENST00000316368.2 - 1 466 c.443C>A c.(442-444)tCa>tAa p.S148* NM_001005276.1 NP_001005276.1 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, member 1 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S148*(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2) 11 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CCCCAACCATGACATGACAGC 0.502000 54 122 4.1673e-28 4.77281e-28 1 1 0 BSCL2 26580 broad.mit.edu 37 11 62462097 62462097 + Missense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr11:62462097C>G ENST00000433053.1 - 5 1129 c.573G>C c.(571-573)ttG>ttC p.L191F BSCL2_ENST00000421906.1_Missense_Mutation_p.L127F|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.L191F|BSCL2_ENST00000407022.3_Missense_Mutation_p.L127F|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.L127F|BSCL2_ENST00000278893.7_Missense_Mutation_p.L127F|BSCL2_ENST00000405837.1_Missense_Mutation_p.L191F Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 127 cell death integral to endoplasmic reticulum membrane p.L127F(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 AAATGGTGACCAAGAACATGC 0.522000 OREG0021029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 67 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100775170 100775170 + Silent SNP T T C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:100775170T>C ENST00000223095.4 + 4 677 c.520T>C c.(520-522)Ttg>Ctg p.L174L SERPINE1_ENST00000445463.2_Silent_p.L159L NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 174 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity p.L174L(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GATCAGCAACTTGCTTGGGAA 0.493000 20 317 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935327 30935327 + Silent SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr19:30935327C>T ENST00000355537.3 + 2 1005 c.858C>T c.(856-858)cgC>cgT p.R286R NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.R286R(2) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCAAGAAGCGCGAGGAGCTGG 0.662000 34 75 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44976183 44976183 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr14:44976183C>A ENST00000340446.4 - 1 299 c.8G>T c.(7-9)gGc>gTc p.G3V NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 3 cilium p.G3V(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTGGGATTTGCCTACCATTGG 0.413000 105 274 4.98428e-49 6.07176e-49 1 1 0 FANCM 57697 broad.mit.edu 37 14 45639925 45639925 + Silent SNP T T G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr14:45639925T>G ENST00000267430.5 + 12 2221 c.2136T>G c.(2134-2136)tcT>tcG p.S712S FANCM_ENST00000542564.2_Silent_p.S686S NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 712 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.S712S(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AGTTTTCTTCTTTACAAAATG 0.323000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 62 122 0 0 1 0 0 NUP54 53371 broad.mit.edu 37 4 77036593 77036593 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr4:77036593C>A ENST00000264883.3 - 12 1590 c.1450G>T c.(1450-1452)Gat>Tat p.D484Y NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y|NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 484 carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm p.D484Y(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 TCTTCTAGATCGTCTTTAATG 0.333000 44 92 2.58029e-29 3.00659e-29 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151161667 151161667 + Missense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:151161667C>G ENST00000282466.3 - 5 5067 c.5068G>C c.(5068-5070)Gat>Cat p.D1690H NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1690 Ig-like C2-type 3. cell differentiation|multicellular organismal development|ossification extracellular region p.D1690H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTAGATAAATCAAGTCCTGAG 0.398000 24 96 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10921956 10921956 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr21:10921956G>C ENST00000298232.7 - 17 1380 c.1013C>G c.(1012-1014)tCt>tGt p.S338C TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S356C|TPTE_ENST00000342420.5_Missense_Mutation_p.S318C NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 356 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S338Y(1)|p.S356Y(1)|p.S338C(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACATATTTCAGAGGCAATAAG 0.343000 28 170 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121554095 121554095 + Silent SNP T T A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr8:121554095T>A ENST00000395601.3 - 7 1893 c.1479A>T c.(1477-1479)ggA>ggT p.G493G SNTB1_ENST00000517992.1_Silent_p.G493G|MTBP_ENST00000519841.1_Intron NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 493 SU. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding p.G493G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) GCATCCTGATTCCATCATCTG 0.363000 10 219 0 0 1 0 0 FAM71E1 112703 broad.mit.edu 37 19 50979132 50979132 + Silent SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr19:50979132G>A ENST00000600100.1 - 2 682 c.318C>T c.(316-318)gaC>gaT p.D106D FAM71E1_ENST00000595790.1_Silent_p.D106D Q6IPT2 F71E1_HUMAN family with sequence similarity 71, member E1 106 p.D106D(1) breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) CCCGAAACTGGTCGAATTCGC 0.627000 12 48 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75981610 75981610 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:75981610G>C ENST00000308508.5 - 3 1888 c.1796C>G c.(1795-1797)tCt>tGt p.S599C NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 599 Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity p.S599C(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGGGAGGCCAGAGGAGGTGCC 0.672000 8 54 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071591 9071591 + Silent SNP G G T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr19:9071591G>T ENST00000397910.4 - 3 16058 c.15855C>A c.(15853-15855)ccC>ccA p.P5285P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5287 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P5285P(2)|p.P918P(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGTGTCCAAGGGAAGGGTAC 0.522000 43 118 2.58029e-29 3.00659e-29 1 1 0 FOXN1 8456 broad.mit.edu 37 17 26851604 26851604 + Silent SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr17:26851604C>T ENST00000226247.2 + 2 236 c.207C>T c.(205-207)cgC>cgT p.R69R FOXN1_ENST00000579795.1_Silent_p.R69R NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 69 R -> C (in dbSNP:rs2071587). defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.R69R(1) endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) ACAGCCCCCGCATTGCGTCAC 0.652000 51 107 0 0 1 0 0 FAM83A 84985 broad.mit.edu 37 8 124219675 124219675 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr8:124219675C>T ENST00000518448.1 + 5 3066 c.1052C>T c.(1051-1053)gCg>gTg p.A351V FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000546351.1_Intron Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 351 Ser-rich. p.A351V(1) 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) AGTGTGTCCGCGTCTTCAGGG 0.731000 6 28 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194126843 194126843 + Silent SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:194126843C>T ENST00000439040.1 - 33 4277 c.3486G>A c.(3484-3486)gaG>gaA p.E1162E ATP13A3_ENST00000256031.4_Silent_p.E1162E Q9H7F0 AT133_HUMAN ATPase type 13A3 1162 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.E1162E(1) NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GATCCACTGACTCCTAAGAAA 0.428000 14 133 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52538071 52538071 + Missense_Mutation SNP T T A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr19:52538071T>A ENST00000594154.1 - 5 1073 c.861A>T c.(859-861)aaA>aaT p.K287N ZNF432_ENST00000221315.5_Missense_Mutation_p.K287N O94892 ZN432_HUMAN zinc finger protein 432 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K287N(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) ATATGTAGGGTTTCTCTCCAG 0.388000 48 225 0 0 1 0 0 ZNF410 57862 broad.mit.edu 37 14 74370665 74370665 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr14:74370665G>A ENST00000555044.1 + 6 777 c.583G>A c.(583-585)Gaa>Aaa p.E195K ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K NM_001242928.1|NM_021188.2 NP_001229857.1|NP_067011.1 Q86VK4 ZN410_HUMAN zinc finger protein 410 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E195K(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.00369) TGTTACAGGAGAAAATGTCCA 0.428000 39 105 0 0 1 0 0 NTN5 126147 broad.mit.edu 37 19 49165010 49165010 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr19:49165010C>T ENST00000270235.4 - 7 1489 c.1394G>A c.(1393-1395)cGg>cAg p.R465Q SEC1P_ENST00000430145.2_RNA NM_145807.1 NP_665806.1 Q8WTR8 NET5_HUMAN netrin 5 465 NTR. extracellular region p.R465Q(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 10 CTGCTGCAGCCGCTTCAGGGG 0.766000 2 1 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 40 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140166478 140166478 + Missense_Mutation SNP T T A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr5:140166478T>A ENST00000504120.2 + 1 603 c.603T>A c.(601-603)gaT>gaA p.D201E PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E NM_018900.2 NP_061723.1 p.D201E(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATATTTGGATAGAGAAGAAA 0.453000 11 121 0 0 1 0 0 CACYBP 27101 broad.mit.edu 37 1 174979201 174979201 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:174979201G>A ENST00000367681.2 + 6 1184 c.544G>A c.(544-546)Gac>Aac p.D182N CACYBP_ENST00000367679.2_Missense_Mutation_p.D225N|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 225 Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS. beta-catenin destruction complex protein homodimerization activity p.D225N(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 AGCCAAAGGAGACACGGAATT 0.378000 30 77 0 0 1 0 0 SLC35C2 51006 broad.mit.edu 37 20 44979077 44979077 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr20:44979077C>A ENST00000372227.1 - 10 1594 c.1054G>T c.(1054-1056)Gac>Tac p.D352Y SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 352 transport integral to membrane p.D352Y(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) TCCTCATTGTCACCTTCCTCC 0.642000 33 135 1.03484e-13 1.12738e-13 1 1 0 FAT3 120114 broad.mit.edu 37 11 92570900 92570900 + Silent SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr11:92570900C>T ENST00000298047.6 + 16 10313 c.10296C>T c.(10294-10296)gtC>gtT p.V3432V FAT3_ENST00000525166.1_Silent_p.V3282V|FAT3_ENST00000409404.2_Silent_p.V3432V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3432 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.V3432V(2)|p.V7V(1) 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) CTGCAACTGTCAACATTGATA 0.463000 TCGA Ovarian(4;0.039) 32 66 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202092294 202092294 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:202092294C>T ENST00000367282.4 + 1 309 c.203C>T c.(202-204)cCc>cTc p.P68L NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 68 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding p.P68L(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GCGGAGTACCCCCGGCCCATT 0.672000 6 45 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279676 217279676 + Missense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr2:217279676C>G ENST00000357276.4 + 3 579 c.249C>G c.(247-249)gaC>gaG p.D83E SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 83 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity p.D83E(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CTAATGCTGACCAAAGACCTC 0.478000 Schimke Immuno-Osseous Dysplasia 27 134 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23110993 23110993 + Missense_Mutation SNP C C T rs139122679 TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:23110993C>T ENST00000400191.3 + 3 253 c.235C>T c.(235-237)Cgg>Tgg p.R79W EPHB2_ENST00000374627.1_Missense_Mutation_p.R73W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R79W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R79W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R79W NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 79 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity p.R79W(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CAAGTTTATCCGGCGCCGTGG 0.577000 20 33 0 0 1 0 0 TMEM255B 348013 broad.mit.edu 37 13 114514745 114514745 + Silent SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr13:114514745C>T ENST00000375353.3 + 9 877 c.850C>T c.(850-852)Ctg>Ttg p.L284L TMEM255B_ENST00000467169.1_3'UTR NM_182614.2 NP_872420.1 transmembrane protein 255B p.L284L(1) CTCCTCTGCCCTGGCTTCGTC 0.657000 39 107 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67405081 67405081 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr16:67405081G>C ENST00000329956.6 + 9 1449 c.1430G>C c.(1429-1431)tGg>tCg p.W477S LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 477 p.W477S(1) endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GGATTCAAATGGAAGGACAAT 0.463000 25 238 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658215 46658215 + Silent SNP G G T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr22:46658215G>T ENST00000253255.5 - 1 1004 c.1005C>A c.(1003-1005)tcC>tcA p.S335S NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 335 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity p.S335S(1) NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCGCCTGCAGGGAACTCCTGA 0.552000 50 196 3.28156e-27 3.72651e-27 1 1 0 KIF24 347240 broad.mit.edu 37 9 34257426 34257426 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr9:34257426C>T ENST00000379166.2 - 11 2298 c.2179G>A c.(2179-2181)Gcc>Acc p.A727T KIF24_ENST00000402558.2_Missense_Mutation_p.A727T|KIF24_ENST00000345050.2_Missense_Mutation_p.A593T|KIF24_ENST00000379174.3_Missense_Mutation_p.A593T NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 727 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.A209T(1)|p.A727T(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CTGTGGTGGGCGTTGCCAAAG 0.567000 134 303 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976509 47976509 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr6:47976509G>C ENST00000543600.1 - 2 756 c.717C>G c.(715-717)gaC>gaG p.D239E PTCHD4_ENST00000339488.4_Missense_Mutation_p.D256E Q6ZW05 CF138_HUMAN patched domain containing 4 256 SSD. integral to membrane hedgehog receptor activity p.D256E(1) TGCGCAAGCAGTCCTTCATGG 0.567000 8 73 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31498984 31498984 + Nonsense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr16:31498984C>G ENST00000330498.3 + 7 808 c.789C>G c.(787-789)taC>taG p.Y263* AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 263 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity p.Y263*(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 CCGACTCCTACCACCTGCTCC 0.652000 10 89 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101832589 101832589 + Missense_Mutation SNP T T C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr11:101832589T>C ENST00000263468.8 + 6 1093 c.823T>C c.(823-825)Tcc>Ccc p.S275P KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 275 S -> Y (in dbSNP:rs11225089). protein binding p.S275P(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GCATTCCACATCCATCCAGCG 0.373000 42 90 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36524554 36524554 + Silent SNP C C T rs145962483 TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr3:36524554C>T ENST00000273183.3 + 3 759 c.459C>T c.(457-459)ggC>ggT p.G153G STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 153 intracellular signal transduction cytoplasm|soluble fraction metal ion binding p.G153G(1) endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 GCACAGATGGCCTGGCACCCC 0.562000 33 90 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45858935 45858935 + Missense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr19:45858935G>A ENST00000391945.4 - 16 1608 c.1531C>T c.(1531-1533)Cgg>Tgg p.R511W ERCC2_ENST00000391944.3_Missense_Mutation_p.R433W NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 511 Mediates interaction with MMS19. R -> Q (in XP-D). cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.R511W(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ATATCCTCCCGGGTCTCAAAT 0.547000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 22 63 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179638343 179638343 + Silent SNP T T C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:179638343T>C ENST00000444136.1 + 17 2914 c.2664T>C c.(2662-2664)aaT>aaC p.N888N TDRD5_ENST00000294848.8_Silent_p.N834N|TDRD5_ENST00000367614.1_Silent_p.N834N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 860 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.N834N(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TAGACATAAATGGTTCTTCAG 0.403000 69 148 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54305247 54305247 + Missense_Mutation SNP G G T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:54305247G>T ENST00000545554.1 + 1 147 c.147G>T c.(145-147)caG>caT p.Q49H UNC13C_ENST00000260323.11_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 49 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.Q49H(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGCTGGCCAGACCAAATCCC 0.398000 43 82 2.13384e-23 2.36309e-23 1 1 0 CNOT4 4850 broad.mit.edu 37 7 135106938 135106938 + Silent SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr7:135106938A>C ENST00000428680.2 - 3 618 c.339T>G c.(337-339)gtT>gtG p.V113V CNOT4_ENST00000356162.4_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000315544.5_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 113 RRM. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding p.V113V(2) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 ATAAACCTACAACAAAGACGA 0.348000 54 128 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92262994 92262994 + Silent SNP A A T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:92262994A>T ENST00000212355.4 - 3 561 c.96T>A c.(94-96)ccT>ccA p.P32P TGFBR3_ENST00000525962.1_Silent_p.P32P|TGFBR3_ENST00000370399.2_Silent_p.P32P NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 32 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding p.P32P(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGGCACTGACAGGTGACAGTT 0.552000 42 96 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6930071 6930071 + Missense_Mutation SNP C C G TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr17:6930071C>G ENST00000293805.5 + 7 1194 c.1102C>G c.(1102-1104)Cca>Gca p.P368A NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 368 nucleus zinc ion binding p.P368A(2) skin(1) 1 TTTTAACCGGCCAGCAAACCT 0.577000 8 103 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43044437 43044437 + Missense_Mutation SNP G G C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:43044437G>C ENST00000267890.6 - 14 3115 c.3007C>G c.(3007-3009)Cta>Gta p.L1003V NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1003 cell death ATP binding|protein serine/threonine kinase activity p.L1003V(1) NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TTCTCCTCTAGCAATTTATCA 0.468000 13 150 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79478427 79478427 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr17:79478427C>T ENST00000575842.1 - 3 1015 c.589G>A c.(589-591)Ggc>Agc p.G197S ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S P63261 ACTG_HUMAN actin, gamma 1 197 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding p.G197S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) AAGCTGTAGCCTCGCTCAGTG 0.642000 39 86 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69002823 69002823 + Missense_Mutation SNP C C T TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr8:69002823C>T ENST00000288368.4 + 20 2400 c.2123C>T c.(2122-2124)gCt>gTt p.A708V PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 708 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.A708V(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGAACTGTGGCTGCAGCAGCT 0.368000 54 63 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 711931 711931 + Missense_Mutation SNP T T C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr9:711931T>C ENST00000382303.1 + 7 1817 c.1165T>C c.(1165-1167)Tcc>Ccc p.S389P KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 389 negative regulation of actin filament polymerization cytoplasm p.S231P(2)|p.S389P(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CTGTGAGGCCTCCTCAGAGCT 0.577000 22 68 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754200 76754200 + Missense_Mutation SNP G G A rs147654064 TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr18:76754200G>A ENST00000536229.3 + 1 2519 c.1810G>A c.(1810-1812)Gtg>Atg p.V604M SALL3_ENST00000537592.2_Missense_Mutation_p.V737M|SALL3_ENST00000575389.2_Missense_Mutation_p.V737M Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 737 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V737M(2) 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) GCCCCTGCGCGTGCAGCACTC 0.652000 28 21 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 161969991 161969991 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr6:161969991C>A ENST00000366898.1 - 9 1080 c.978G>T c.(976-978)caG>caT p.Q326H PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 326 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.Q326H(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CGCCCCCCATCTGCAGGACAC 0.577000 60 150 1.31726e-23 1.47094e-23 1 1 0 UBE4B 10277 broad.mit.edu 37 1 10231330 10231330 + Silent SNP G G A rs142901446 TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:10231330G>A ENST00000377157.3 + 24 3794 c.2733G>A c.(2731-2733)acG>acA p.T911T UBE4B_ENST00000253251.8_Silent_p.T1027T|UBE4B_ENST00000343090.6_Silent_p.T1156T NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1156 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding p.T1027T(1)|p.T1156T(1) NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) ACCAACTGACGGATATTTACT 0.478000 81 232 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102570788 102570788 + Missense_Mutation SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr8:102570788C>A ENST00000251808.3 + 4 764 c.426C>A c.(424-426)agC>agA p.S142R GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 142 cytoplasm|nucleus DNA binding p.S142R(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ACAGCATCAGCTTCCCCGAGA 0.517000 70 235 4.09166e-32 4.89538e-32 1 1 0 IQGAP1 8826 broad.mit.edu 37 15 91016148 91016148 + Missense_Mutation SNP T T A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr15:91016148T>A ENST00000268182.5 + 19 2379 c.2255T>A c.(2254-2256)cTg>cAg p.L752Q IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 752 IQ 1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity p.L752Q(1) breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) ATCACCAGGCTGCAGGCTCGC 0.498000 63 123 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99655149 99655149 + Nonsense_Mutation SNP G G A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr10:99655149G>A ENST00000370597.3 - 11 1694 c.1339C>T c.(1339-1341)Cga>Tga p.R447* CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.R447*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.R447* NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 447 proteinaceous extracellular matrix calcium ion binding p.R447*(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GGCACCACTCGCAGCCAGTTG 0.642000 42 93 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390797 48390797 + Silent SNP C C A TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr10:48390797C>A ENST00000224600.4 - 1 194 c.81G>T c.(79-81)ctG>ctT p.L27L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 27 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.L27L(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGTCCAGCACCAGGCTTGGCT 0.602000 23 64 4.7796e-09 5.12374e-09 1 1 0 SDHAP3 0 broad.mit.edu 37 5 1593386 1593386 + RNA SNP A A C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr5:1593386A>C ENST00000436493.2 - 0 239 CTGGCCATTCACGTGCCTCAG 0.597000 4 89 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36563769 36563770 + Frame_Shift_Ins INS - - C TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr1:36563769_36563770insC ENST00000397799.1 - 4 1736_1737 c.1512_1513insG c.(1510-1515)ggccacfs p.H505fs COL8A2_ENST00000481785.1_Frame_Shift_Ins_p.H440fs|COL8A2_ENST00000303143.4_Frame_Shift_Ins_p.H505fs P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 505 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCCCCGTGGGCCCAGCCGTGC 0.762 4 8 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 7 253 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124350061 124350065 + Splice_Site DEL ACTTC ACTTC - TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr8:124350061_124350065delACTTC ENST00000287394.5 - 21 2962 c.2854_splice c.e21-1 p.952_splice ATAD2_ENST00000521903.1_Splice_Site_p.270_splice NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 952 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AGCCTGCAAAACTTCACATGAATGG 0.410 18 130 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr8:139809072delT ENST00000303045.6 - 12 2032 c.1586delA c.(1585-1587)agfs p.K529fs COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 529 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCACCCTTTTCCCCTTG 0.463 HNSCC(7;0.00092) 7 785 --- --- --- --- RNASEH2C 84153 broad.mit.edu 37 11 65487262 65487273 + In_Frame_Del DEL CGGGCACCTGTG CGGGCACCTGTG - TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr11:65487262_65487273delCGGGCACCTGTG ENST00000308418.4 - 4 664_675 c.476_487delCACAGGTGCCCG c.(475-489)gag>g p.AQVPE159del RNASEH2C_ENST00000527610.1_In_Frame_Del_p.RTGAR237del|RNASEH2C_ENST00000528220.1_In_Frame_Del_p.AQVPE76del NM_032193.3 NP_115569.2 Q8TDP1 RNH2C_HUMAN ribonuclease H2, subunit C 159 RNA catabolic process nucleus|ribonuclease H2 complex cervix(1) 1 TCTCAGTCCTCGGGCACCTGTGCGTGAATCTG 0.528 15 81 --- --- --- --- C12orf57 113246 broad.mit.edu 37 12 7053872 7053877 + In_Frame_Del DEL GAGGGC GAGGGC - TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr12:7053872_7053877delGAGGGC ENST00000544681.1 + 2 591_596 c.286_291delGAGGGC c.(286-291)del p.EG96del C12orf57_ENST00000540506.2_Intron|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000542222.1_Intron Q99622 C10_HUMAN chromosome 12 open reading frame 57 0 kidney(1)|large_intestine(1) 2 TGGGTCGGGAGAGGGCGCCGGATCTG 0.636 OREG0011073|OREG0021642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model 13 62 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32906912 32906912 + Frame_Shift_Del DEL A A - TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr13:32906912delA ENST00000544455.1 + 10 1524 c.1297delA c.(1297-1299)acfs p.N433fs BRCA2_ENST00000380152.3_Frame_Shift_Del_p.N433fs NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 433 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGACACAGAGAACAAAAGAAA 0.358 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 82 149 --- --- --- --- KLK1 3816 broad.mit.edu 37 19 51322517 51322527 + Frame_Shift_Del DEL GGCTTATTGGG GGCTTATTGGG - TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr19:51322517_51322527delGGCTTATTGGG ENST00000448701.2 - 6 1730_1740 c.406_416delCCCAATAAGCC c.(406-417)tfs p.PNKP136fs KLK1_ENST00000301420.2_Frame_Shift_Del_p.PNKP238fs P06870 KLK1_HUMAN kallikrein 1 238 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCGACAGAAGGCTTATTGGGGGTGCCACAA 0.583 13 147 --- --- --- --- SGSM1 129049 broad.mit.edu 37 22 25246361 25246381 + In_Frame_Del DEL CCTGGACAAAATTGTGCATTA CCTGGACAAAATTGTGCATTA - TCGA-CH-5754-01A-11D-1576-08 TCGA-CH-5754-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee88d86f-4fbf-43b7-ad6b-aeebad71c27a 479abe86-78d2-4955-b8f3-03be4c2709c5 g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA ENST00000400358.4 + 5 474_494 c.417_437delCCTGGACAAAATTGTGCATTA c.(415-438)gtc>gt p.VLDKIVHY139del SGSM1_ENST00000400359.4_In_Frame_Del_p.VLDKIVHY139del NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 139 RUN. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 TTGAGAAGGTCCTGGACAAAATTGTGCATTACCTTGTGGAA 0.557 OREG0026418 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 36 --- --- --- ---