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 GABRQ 55879 broad.mit.edu 37 X 151818304 151818304 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:151818304G>A ENST00000370306.2 + 6 730 c.710G>A c.(709-711)gGa>gAa p.G237E NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 237 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) ACTTTCCTGGGAAGGACGATT 0.483000 41 69 0 0 0.104719 0 0 NKAIN2 154215 broad.mit.edu 37 6 125139609 125139609 + Missense_Mutation SNP G G T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:125139609G>T ENST00000368417.1 + 6 672 c.612G>T c.(610-612)atG>atT p.M204I NKAIN2_ENST00000546092.1_Missense_Mutation_p.M137I|NKAIN2_ENST00000545433.1_Missense_Mutation_p.M189I NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 204 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) TACAGCCTATGTACATGTAAG 0.368000 13 36 3.27435e-08 3.36109e-08 0.119110 1 0 ACE 1636 broad.mit.edu 37 17 61566100 61566100 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:61566100C>T ENST00000577647.1 + 5 720 c.675C>T c.(673-675)ctC>ctT p.L225L ACE_ENST00000290863.6_Silent_p.L225L|ACE_ENST00000290866.4_Silent_p.L799L|ACE_ENST00000413513.3_Silent_p.L225L|ACE_ENST00000490216.2_Silent_p.L225L|ACE_ENST00000428043.1_Silent_p.L799L|ACE_ENST00000421982.2_Silent_p.L109L P12821 ACE_HUMAN angiotensin I converting enzyme 799 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GAGCCATCCTCCAGTTTTACC 0.557000 35 63 0 0 0.074837 0 0 NAA25 80018 broad.mit.edu 37 12 112492209 112492209 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:112492209G>A ENST00000261745.4 - 14 1859 c.1611C>T c.(1609-1611)atC>atT p.I537I NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 537 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TATCATGCTGGATATGCTTAG 0.433000 17 42 0 0 0.146539 0 0 MUC6 4588 broad.mit.edu 37 11 1017269 1017269 + Silent SNP G G A rs71472140 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:1017269G>A ENST00000421673.2 - 31 5582 c.5532C>T c.(5530-5532)tcC>tcT p.S1844S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1844 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAAGGAGGTGGAGAAAGATG 0.542000 11 531 0 0 0.105934 0 0 LRRC28 123355 broad.mit.edu 37 15 99874192 99874192 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:99874192C>T ENST00000301981.3 + 6 690 c.450C>T c.(448-450)ccC>ccT p.P150P LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_Intron|LRRC28_ENST00000447360.2_Silent_p.P150P|LRRC28_ENST00000559399.1_3'UTR NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 150 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) TAACTTTACCCGAGAGGCTTC 0.478000 29 48 0 0 0.116897 0 0 GPR123 84435 broad.mit.edu 37 10 134906625 134906625 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:134906625G>A ENST00000607359.1 + 10 1896 c.1896G>A c.(1894-1896)agG>agA p.R632R GPR123_ENST00000392607.3_Intron Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CACTGTGCAGGAAAGAAGGTT 0.617000 6 4 0 0 0.038147 0 0 DMD 1756 broad.mit.edu 37 X 32429959 32429959 + Missense_Mutation SNP T T A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:32429959T>A ENST00000357033.4 - 30 4349 c.4143A>T c.(4141-4143)ttA>ttT p.L1381F DMD_ENST00000378677.2_Missense_Mutation_p.L1377F NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1381 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACTCCTGGATTAAGTGTAAGG 0.458000 26 43 0 0 0.108266 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374929 8374929 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:8374929G>A ENST00000538603.1 - 7 1442 c.884C>T c.(883-885)cCg>cTg p.P295L FAM90A1_ENST00000307435.6_Missense_Mutation_p.P295L NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 295 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) AATCGGAGCCGGGGCAGATCT 0.652000 22 72 0 0 0.069288 0 0 SPACA1 81833 broad.mit.edu 37 6 88757815 88757815 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:88757815G>A ENST00000237201.1 + 1 309 c.192G>A c.(190-192)ccG>ccA p.P64P NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 64 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) ACTACGCTCCGCCTGAAACCG 0.647000 11 15 0 0 0.132662 0 0 KPRP 448834 broad.mit.edu 37 1 152732718 152732718 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:152732718C>T ENST00000368773.1 + 2 712 c.654C>T c.(652-654)ttC>ttT p.F218F KPRP_ENST00000606109.1_Silent_p.F218F NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 218 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGCTGTTTCCCTCAGTATC 0.572000 52 103 0 0 0.139131 0 0 CD22 933 broad.mit.edu 37 19 35837499 35837499 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:35837499C>T ENST00000085219.5 + 14 2509 c.2443C>T c.(2443-2445)Cca>Tca p.P815S CD22_ENST00000536635.2_Missense_Mutation_p.P727S|CD22_ENST00000594250.1_Missense_Mutation_p.P638S|CD22_ENST00000419549.2_Missense_Mutation_p.P643S|CD22_ENST00000341773.6_Missense_Mutation_p.P638S|CD22_ENST00000270311.6_Missense_Mutation_p.P630S|CD22_ENST00000544992.2_3'UTR NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 815 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TCCAGATTTTCCAGAAGATGA 0.532000 6 9 0 0 0.029380 0 0 XIRP1 165904 broad.mit.edu 37 3 39226215 39226215 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:39226215G>A ENST00000340369.3 - 2 4950 c.4722C>T c.(4720-4722)ttC>ttT p.F1574F XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.F257F NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1574 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GAGGTCCCTGGAAATGGCCTC 0.587000 57 85 0 0 0.139131 0 0 ALPK2 115701 broad.mit.edu 37 18 56246229 56246229 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:56246229C>T ENST00000361673.3 - 4 1992 c.1779G>A c.(1777-1779)cgG>cgA p.R593R ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 593 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CATGGGAACTCCGACCAGTCG 0.493000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 55 0 0 0.091800 0 0 DLX5 1749 broad.mit.edu 37 7 96650112 96650112 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:96650112G>A ENST00000222598.4 - 3 1279 c.806C>T c.(805-807)tCc>tTc p.S269F DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 269 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CGGCAGGTGGGAATTGATTGA 0.597000 15 38 0 0 0.146539 0 0 PIK3CB 5291 broad.mit.edu 37 3 138402568 138402568 + Missense_Mutation SNP T T C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:138402568T>C ENST00000477593.1 - 17 2450 c.2377A>G c.(2377-2379)Aag>Gag p.K793E PIK3CB_ENST00000544716.1_Missense_Mutation_p.K239E|PIK3CB_ENST00000289153.2_Missense_Mutation_p.K793E P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 793 activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CCAAATACCTTGTTATTGTAT 0.328000 165 337 0 0 0.139131 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 5 87 0 0 0.014758 0 0 SLFN5 162394 broad.mit.edu 37 17 33586549 33586549 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:33586549C>T ENST00000299977.4 + 2 988 c.840C>T c.(838-840)ttC>ttT p.F280F SLFN5_ENST00000592325.1_Silent_p.F280F|SLFN5_ENST00000542451.1_Silent_p.F280F NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 280 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TCCTTAACTTCCTTGAAGTGC 0.473000 47 98 0 0 0.139131 0 0 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A A G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:50370414A>G ENST00000322344.3 - 2 157 c.48T>C c.(46-48)ccT>ccC p.P16P PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding p.P16P(8) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721000 Other BER factors 9 28 0 0 0.069234 0 0 TBC1D21 161514 broad.mit.edu 37 15 74180077 74180077 + Splice_Site SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:74180077G>A ENST00000300504.2 + 9 977 c.894_splice c.e9+1 p.L298_splice TBC1D21_ENST00000562056.1_Splice_Site_p.L261_splice|TBC1D21_ENST00000535547.2_Splice_Site_p.L262_splice NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 298 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 ACATCCTCCTGGTGAGAGCAC 0.652000 22 45 0 0 0.069288 0 0 C6 729 broad.mit.edu 37 5 41160458 41160458 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:41160458G>A ENST00000263413.3 - 11 1734 c.1470C>T c.(1468-1470)atC>atT p.I490I C6_ENST00000337836.5_Silent_p.I490I|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 490 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCAAGTCCACGATGGGGGCAA 0.498000 16 43 0 0 0.132662 0 0 OR2M3 127062 broad.mit.edu 37 1 248367245 248367245 + Silent SNP C C A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:248367245C>A ENST00000456743.1 + 1 914 c.876C>A c.(874-876)ctC>ctA p.L292L NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTACAGCCTCCGCAACAAGG 0.473000 30 51 1.06801e-11 1.10361e-11 0.144211 1 0 RBMXL2 27288 broad.mit.edu 37 11 7111505 7111505 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:7111505G>A ENST00000306904.5 + 1 1341 c.1154G>A c.(1153-1155)aGa>aAa p.R385K NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 385 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGCTTGGAGAGAGGAGGAGGC 0.552000 9 11 0 0 0.080935 0 0 CNR1 1268 broad.mit.edu 37 6 88854925 88854925 + Nonsense_Mutation SNP C C T rs144795421 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:88854925C>T ENST00000549716.1 - 1 52 c.53G>A c.(52-54)tGg>tAg p.W18* CNR1_ENST00000369501.2_Silent_p.V23V|CNR1_ENST00000537554.1_Silent_p.V23V|CNR1_ENST00000362094.5_Silent_p.V23V|CNR1_ENST00000369499.2_Silent_p.V23V|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000535130.1_Silent_p.V23V|CNR1_ENST00000428600.2_Silent_p.V23V|CNR1_ENST00000549890.1_Silent_p.V23V P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 0 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CATTTGAGCCCACGTACAGGA 0.463000 36 89 0 0 0.086207 0 0 ABL1 25 broad.mit.edu 37 9 133756025 133756025 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:133756025C>T ENST00000318560.5 + 10 2033 c.1652C>T c.(1651-1653)cCt>cTt p.P551L NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 551 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCTGAGATGCCTCACTCCAAG 0.622000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 12 17 0 0 0.105934 0 0 HERC2 8924 broad.mit.edu 37 15 28519439 28519439 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:28519439C>T ENST00000261609.7 - 7 906 c.798G>A c.(796-798)acG>acA p.T266T NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 266 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAACTCACCCCGTCACGACGG 0.577000 9 16 0 0 0.058154 0 0 RAD21 5885 broad.mit.edu 37 8 117866524 117866524 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:117866524G>A ENST00000297338.2 - 9 1408 c.1121C>T c.(1120-1122)tCt>tTt p.S374F NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 374 Interaction with STAG1.|Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) AGCAGGTAAAGAAAACAGTTT 0.348000 38 29 0 0 0.098360 0 0 TCEA2 6919 broad.mit.edu 37 20 62700772 62700772 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:62700772C>T ENST00000395053.3 + 5 543 c.388C>T c.(388-390)Ccg>Tcg p.P130S TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.P103S|TCEA2_ENST00000343484.5_Missense_Mutation_p.P130S Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 130 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CACATTTCCTCCGGTGCCTGT 0.672000 11 8 0 0 0.080935 0 0 MUC5B 727897 broad.mit.edu 37 11 1260184 1260184 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:1260184G>A ENST00000447027.1 + 26 3448 c.3390G>A c.(3388-3390)acG>acA p.T1130T MUC5B_ENST00000529681.1_Silent_p.T1127T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1127 Cys-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTTTCTGCACGGCTGTGGCTG 0.672000 3 6 0 0 0.115264 0 0 CCDC135 84229 broad.mit.edu 37 16 57762339 57762339 + Missense_Mutation SNP A A T rs78948416 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:57762339A>T ENST00000360716.3 + 17 2455 c.2234A>T c.(2233-2235)gAg>gTg p.E745V CCDC135_ENST00000394337.4_Missense_Mutation_p.E745V|CCDC135_ENST00000336825.8_Missense_Mutation_p.E680V Q8IY82 CC135_HUMAN coiled-coil domain containing 135 745 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CGGCAGGTGGAGACCCAGCTG 0.607000 31 78 0 0 0.054565 0 0 CACNA1C 775 broad.mit.edu 37 12 2224481 2224481 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:2224481G>A ENST00000399655.1 + 2 406 c.141G>A c.(139-141)ggG>ggA p.G47G CACNA1C_ENST00000399591.1_Silent_p.G47G|CACNA1C_ENST00000399641.1_Silent_p.G47G|CACNA1C_ENST00000399617.1_Silent_p.G47G|CACNA1C_ENST00000399644.1_Silent_p.G47G|CACNA1C_ENST00000399621.1_Silent_p.G47G|CACNA1C_ENST00000399638.1_Silent_p.G47G|CACNA1C_ENST00000327702.7_Silent_p.G47G|CACNA1C_ENST00000344100.3_Silent_p.G47G|CACNA1C_ENST00000399637.1_Silent_p.G47G|CACNA1C_ENST00000399595.1_Silent_p.G47G|CACNA1C_ENST00000335762.5_Silent_p.G47G|CACNA1C_ENST00000406454.3_Silent_p.G47G|CACNA1C_ENST00000399603.1_Silent_p.G47G|CACNA1C_ENST00000399597.1_Silent_p.G47G|CACNA1C_ENST00000399634.1_Silent_p.G47G|CACNA1C_ENST00000399601.1_Silent_p.G47G|CACNA1C_ENST00000480911.1_Silent_p.G47G|CACNA1C_ENST00000399606.1_Silent_p.G47G|CACNA1C_ENST00000399629.1_Silent_p.G47G|CACNA1C_ENST00000347598.4_Silent_p.G47G|CACNA1C_ENST00000402845.3_Silent_p.G47G|CACNA1C_ENST00000399649.1_Silent_p.G47G NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 47 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCACCCCGGGGGCTGCCCTGT 0.677000 5 7 0 0 0.014758 0 0 SDK1 221935 broad.mit.edu 37 7 4091391 4091391 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:4091391C>T ENST00000404826.2 + 19 2979 c.2840C>T c.(2839-2841)tCc>tTc p.S947F SDK1_ENST00000389531.3_Missense_Mutation_p.S947F NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 947 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TACTTCACTTCCGTTCTGTGC 0.552000 42 94 0 0 0.117977 0 0 RAF1 5894 broad.mit.edu 37 3 12641889 12641889 + Nonsense_Mutation SNP G G T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:12641889G>T ENST00000251849.4 - 8 1299 c.860C>A c.(859-861)tCa>tAa p.S287* RAF1_ENST00000442415.2_Nonsense_Mutation_p.S307*|RAF1_ENST00000542177.1_Nonsense_Mutation_p.S206*|RAF1_ENST00000534997.1_Nonsense_Mutation_p.S72* NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 287 activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) AAAAGTACCTGATTCGCTGTG 0.413000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 18 38 1.00905e-13 1.05321e-13 0.049695 1 0 GAK 2580 broad.mit.edu 37 4 845554 845554 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:845554G>A ENST00000314167.4 - 25 3602 c.3492C>T c.(3490-3492)gtC>gtT p.V1164V GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.V1085V NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1164 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) TGGGTGCGCGGACCCCCCGCT 0.597000 28 43 0 0 0.125774 0 0 CA10 56934 broad.mit.edu 37 17 50008478 50008478 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:50008478C>T ENST00000451037.2 - 3 1091 c.151G>A c.(151-153)Gga>Aga p.G51R CA10_ENST00000442502.2_Missense_Mutation_p.G51R|CA10_ENST00000340813.6_Missense_Mutation_p.G57R|CA10_ENST00000285273.4_Missense_Mutation_p.G51R|CA10_ENST00000570565.1_5'UTR NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 51 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TTCACCAATCCCCAGAAAGAA 0.438000 40 80 0 0 0.092188 0 0 ZNF646 9726 broad.mit.edu 37 16 31092343 31092343 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:31092343C>T ENST00000394979.2 + 1 5121 c.4698C>T c.(4696-4698)ttC>ttT p.F1566F ZNF646_ENST00000300850.5_Silent_p.F1566F O15015 ZN646_HUMAN zinc finger protein 646 1566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCAAGGAGTTCTTAAATCCTG 0.542000 34 52 0 0 0.059317 0 0 TTC21B 79809 broad.mit.edu 37 2 166747104 166747104 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:166747104G>A ENST00000243344.7 - 24 3285 c.3148C>T c.(3148-3150)Cgg>Tgg p.R1050W TTC21B_ENST00000536175.1_5'UTR NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1050 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 CGATCTTTCCGAGCTTTATTA 0.338000 11 12 0 0 0.093190 0 0 PDP1 54704 broad.mit.edu 37 8 94935737 94935737 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:94935737C>T ENST00000396200.3 + 3 1801 c.1525C>T c.(1525-1527)Cgc>Tgc p.R509C PDP1_ENST00000517764.1_Missense_Mutation_p.R484C|PDP1_ENST00000297598.4_Missense_Mutation_p.R484C|PDP1_ENST00000520728.1_Missense_Mutation_p.R484C NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 484 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 CCATCTCATTCGCCACGCTGT 0.478000 33 110 0 0 0.069456 0 0 SDK1 221935 broad.mit.edu 37 7 3658864 3658864 + Nonsense_Mutation SNP G G T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:3658864G>T ENST00000404826.2 + 2 590 c.451G>T c.(451-453)Gaa>Taa p.E151* SDK1_ENST00000389531.3_Nonsense_Mutation_p.E151* NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 151 Ig-like C2-type 1. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTACAGCAGCGAATATAAGTA 0.453000 12 34 9.05144e-12 9.38444e-12 0.105934 1 0 HIP1 3092 broad.mit.edu 37 7 75178284 75178284 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:75178284C>T ENST00000336926.6 - 23 2337 c.2311G>A c.(2311-2313)Gga>Aga p.G771R HIP1_ENST00000434438.2_Missense_Mutation_p.G771R NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 771 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 ATGTCCAGTCCCCTGGGCAGG 0.562000 T PDGFRB CMML 46 93 0 0 0.111260 0 0 NME8 51314 broad.mit.edu 37 7 37916566 37916566 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:37916566G>A ENST00000199447.4 + 12 1323 c.951G>A c.(949-951)aaG>aaA p.K317K NME8_ENST00000440017.1_Silent_p.K317K|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 317 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity AATTAGAAAAGACATTGGCAT 0.333000 7 28 0 0 0.058154 0 0 ADH1C 126 broad.mit.edu 37 4 100261813 100261813 + RNA SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:100261813C>T ENST00000515683.1 - 0 1234 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TCAGGAGGTACCCCTACAATG 0.458000 69 131 0 0 0.139131 0 0 RFX6 222546 broad.mit.edu 37 6 117250035 117250035 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:117250035C>T ENST00000332958.2 + 18 2528 c.2512C>T c.(2512-2514)Cac>Tac p.H838Y NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 838 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CAGTGACATCCACGATCCACT 0.473000 29 52 0 0 0.108266 0 0 MAML3 55534 broad.mit.edu 37 4 140651714 140651714 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:140651714G>A ENST00000509479.2 - 3 3043 c.2187C>T c.(2185-2187)ttC>ttT p.F729F MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 725 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGCTGCCCAGGAAGCCGGGGC 0.622000 4 9 0 0 0.009096 0 0 BMP3 651 broad.mit.edu 37 4 81967316 81967316 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:81967316C>T ENST00000282701.2 + 2 1061 c.741C>T c.(739-741)gcC>gcT p.A247A NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 247 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 CCAATGATGCCGCCATTTCTG 0.483000 43 72 0 0 0.104719 0 0 UROC1 131669 broad.mit.edu 37 3 126224812 126224812 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:126224812G>A ENST00000290868.2 - 7 698 c.645C>T c.(643-645)ccC>ccT p.P215P UROC1_ENST00000383579.3_Silent_p.P215P NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 215 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CGATTCCCTGGGGACCGATGT 0.657000 28 36 0 0 0.116897 0 0 FBXW7 55294 broad.mit.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:153247366C>T ENST00000281708.4 - 10 2665 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 479 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 23 42 0 0 0.076483 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:29977327T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 3 39 0 0 0.009096 0 0 WDR64 128025 broad.mit.edu 37 1 241904917 241904917 + Missense_Mutation SNP A A G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:241904917A>G ENST00000366552.2 + 11 1598 c.1391A>G c.(1390-1392)aAc>aGc p.N464S WDR64_ENST00000437684.2_Missense_Mutation_p.N464S NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 464 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ATGCTTTACAACAAATATTTT 0.348000 9 20 0 0 0.047766 0 0 P2RY8 286530 broad.mit.edu 37 X 1584751 1584751 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:1584751C>T ENST00000381297.4 - 2 911 c.701G>A c.(700-702)cGc>cAc p.R234H NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 234 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCCCACCGCGCGCCTCCGCTG 0.657000 T CRLF2 """B-ALL, Downs associated ALL""" 15 30 0 0 0.119110 0 0 PSG9 5678 broad.mit.edu 37 19 43762547 43762547 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:43762547G>A ENST00000244293.7 - 4 837 c.771C>T c.(769-771)ctC>ctT p.L257L PSG9_ENST00000593948.1_Silent_p.L257L|PSG9_ENST00000596730.1_Silent_p.L164L|PSG9_ENST00000443718.3_Silent_p.L257L|PSG9_ENST00000291752.5_Silent_p.L164L|PSG9_ENST00000418820.2_Silent_p.L257L|PSG9_ENST00000270077.3_Silent_p.L350L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 255 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGGACAAGTCGAGGTTTTCTC 0.453000 82 138 0 0 0.139131 0 0 MED24 9862 broad.mit.edu 37 17 38188975 38188975 + Missense_Mutation SNP G G C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:38188975G>C ENST00000394126.1 - 8 1356 c.938C>G c.(937-939)gCt>gGt p.A313G MED24_ENST00000501516.3_Missense_Mutation_p.A307G|MED24_ENST00000394128.2_Missense_Mutation_p.A288G|MED24_ENST00000356271.3_Missense_Mutation_p.A275G|MED24_ENST00000394127.2_Missense_Mutation_p.A275G O75448 MED24_HUMAN mediator complex subunit 24 288 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) CACGAAGCAAGCTTTCCAGAT 0.577000 30 63 0 0 0.064281 0 0 TPH2 121278 broad.mit.edu 37 12 72425076 72425076 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:72425076C>T ENST00000333850.3 + 10 1344 c.1203C>T c.(1201-1203)gaC>gaT p.D401D NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 401 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) AAGCCTTTGACCCAAAGACAA 0.418000 37 53 0 0 0.074837 0 0 MAP3K1 4214 broad.mit.edu 37 5 56178115 56178115 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:56178115C>T ENST00000399503.3 + 14 3088 c.3088C>T c.(3088-3090)Cac>Tac p.H1030Y NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 1030 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) TCTACAATTCCACAGAAACTG 0.448000 20 54 0 0 0.043863 0 0 SCNN1D 6339 broad.mit.edu 37 1 1226673 1226673 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:1226673C>T ENST00000338555.2 + 15 2744 c.1600C>T c.(1600-1602)Ctg>Ttg p.L534L SCNN1D_ENST00000379116.5_Silent_p.L698L|SCNN1D_ENST00000325425.8_Silent_p.L600L|SCNN1D_ENST00000400928.3_Silent_p.L534L sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CCTCTGCAGCCTGTGGTTTGG 0.726000 9 2 0 0 0.047766 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819661 159819661 + RNA SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:159819661G>A ENST00000497452.1 - 0 517 AAACCAGATGGAACAACGACG 0.502000 44 69 0 0 0.111260 0 0 FGA 2243 broad.mit.edu 37 4 155509998 155509998 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:155509998G>A ENST00000302053.3 - 3 389 c.311C>T c.(310-312)tCg>tTg p.S104L FGA_ENST00000403106.3_Missense_Mutation_p.S104L NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 104 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGTGGTCAACGAATGAGAATC 0.294000 45 112 0 0 0.139131 0 0 FARP1 10160 broad.mit.edu 37 13 99092481 99092481 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:99092481C>T ENST00000376586.2 + 24 3050 c.2714C>T c.(2713-2715)cCt>cTt p.P905L FARP1_ENST00000595437.1_Missense_Mutation_p.P905L|FARP1_ENST00000319562.6_Missense_Mutation_p.P874L Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 874 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGCAGCCCCCCTGACAACAGT 0.612000 45 61 0 0 0.104719 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814337 106814337 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:106814337C>T ENST00000407775.2 + 8 2277 c.2027C>T c.(2026-2028)cCc>cTc p.P676L RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544L NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 676 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCAGTGTCCCCTTAGTGGAT 0.428000 19 17 0 0 0.043863 0 0 AMPD1 270 broad.mit.edu 37 1 115221019 115221019 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:115221019C>T ENST00000369538.3 - 7 1161 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K AMPD1_ENST00000520113.2_Missense_Mutation_p.E376K|AMPD1_ENST00000353928.6_Missense_Mutation_p.E343K NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 343 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GCAAAAAGTTCCTTTAGGGTC 0.378000 24 44 0 0 0.083992 0 0 SMPD3 55512 broad.mit.edu 37 16 68405851 68405851 + Silent SNP C C T rs147838351 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:68405851C>T ENST00000219334.5 - 3 837 c.234G>A c.(232-234)gcG>gcA p.A78A SMPD3_ENST00000563226.1_Silent_p.A78A|SMPD3_ENST00000568373.1_Silent_p.A78A NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 78 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) AGCCGAGAAACGCAAAGGGCA 0.672000 15 34 0 0 0.146539 0 0 HBD 3045 broad.mit.edu 37 11 5255401 5255401 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:5255401G>A ENST00000380299.3 - 2 349 c.135C>T c.(133-135)tcC>tcT p.S45S HBD_ENST00000292901.3_Silent_p.S45S NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 45 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCCCCAAAGGACTCAAAGA 0.527000 28 62 0 0 0.134883 0 0 GCN1L1 10985 broad.mit.edu 37 12 120575810 120575810 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:120575810G>A ENST00000300648.6 - 48 6300 c.6288C>T c.(6286-6288)ttC>ttT p.F2096F NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2096 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGACGAAAGGAAAGCCAGCA 0.577000 6 20 0 0 0.021553 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280605 105280605 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:105280605C>T ENST00000327674.4 - 1 780 c.445G>A c.(445-447)Gat>Aat p.D149N SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149N P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 149 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTTGACATCATTCAAGAAC 0.428000 69 139 0 0 0.139131 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5240009 5240009 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:5240009G>A ENST00000274181.7 + 16 2632 c.2494G>A c.(2494-2496)Gga>Aga p.G832R NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 832 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AATCGCTACTGGACCAACCAA 0.512000 41 80 0 0 0.111260 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819825 70819825 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:70819825G>A ENST00000370944.4 - 1 580 c.267C>T c.(265-267)tcC>tcT p.S89S ANKRD13C_ENST00000262346.6_Silent_p.S89S NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 89 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 CCGGGGACTGGGAGTTGGCAG 0.677000 48 92 0 0 0.139131 0 0 FUT9 10690 broad.mit.edu 37 6 96651433 96651433 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:96651433G>A ENST00000302103.5 + 3 728 c.402G>A c.(400-402)atG>atA p.M134I NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 134 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GGATTTGGATGAATTTGGAAT 0.458000 20 41 0 0 0.043863 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724205 140724205 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:140724205G>A ENST00000253812.6 + 1 605 c.605G>A c.(604-606)cGt>cAt p.R202H PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.R202H(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTGGACCGTGAGAAAAAA 0.537000 27 49 0 0 0.108266 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622410 41622410 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:41622410G>A ENST00000331105.2 + 3 294 c.222G>A c.(220-222)cgG>cgA p.R74R NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 74 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 GACCCAGGCGGGTGGTGGTCC 0.597000 45 94 0 0 0.139131 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103470286 103470286 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:103470286G>A ENST00000361246.2 - 4 714 c.426C>T c.(424-426)gcC>gcT p.A142A NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 142 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CGTCCTGAAAGGCGTAGTGCA 0.572000 14 8 0 0 0.146539 0 0 OR4A47 403253 broad.mit.edu 37 11 48510798 48510798 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:48510798C>T ENST00000446524.1 + 1 530 c.454C>T c.(454-456)Ctg>Ttg p.L152L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGGAGGATTTCTGCACTCAGT 0.428000 23 47 0 0 0.062417 0 0 DNAH5 1767 broad.mit.edu 37 5 13922271 13922271 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:13922271G>A ENST00000265104.4 - 5 709 c.605C>T c.(604-606)tCc>tTc p.S202F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 202 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCTTCCAGGGAGCTCAAGAA 0.542000 Kartagener syndrome 10 26 0 0 0.093190 0 0 RRNAD1 51093 broad.mit.edu 37 1 156702139 156702139 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:156702139C>T ENST00000524343.1 + 2 323 c.178C>T c.(178-180)Ccg>Tcg p.P60S RRNAD1_ENST00000368216.4_Silent_p.T101T|RRNAD1_ENST00000368218.4_Silent_p.T101T|RRNAD1_ENST00000476229.1_5'UTR Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 0 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 TGGCCTTTACCCGGATGCCTG 0.597000 16 59 0 0 0.038395 0 0 MMP11 4320 broad.mit.edu 37 22 24125674 24125674 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr22:24125674C>T ENST00000598975.1 - 1 471 c.472G>A c.(472-474)Ggg>Agg p.G158R MMP11_ENST00000215743.3_Silent_p.P470P AAGGCTTCCCCCGTCTCGTGG 0.607000 37 80 0 0 0.074837 0 0 HEPH 9843 broad.mit.edu 37 X 65476088 65476088 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:65476088G>A ENST00000519389.1 + 17 3153 c.2974G>A c.(2974-2976)Gaa>Aaa p.E992K HEPH_ENST00000441993.2_Missense_Mutation_p.E941K|HEPH_ENST00000336279.5_Missense_Mutation_p.E671K|HEPH_ENST00000374727.3_Missense_Mutation_p.E941K|HEPH_ENST00000343002.2_Missense_Mutation_p.E938K|HEPH_ENST00000419594.1_Missense_Mutation_p.E749K Q9BQS7 HEPH_HUMAN hephaestin 938 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GTATTTGGAGGAAAATGTGGC 0.433000 26 37 0 0 0.116897 0 0 PTPRD 5789 broad.mit.edu 37 9 8486162 8486162 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:8486162G>A ENST00000381196.4 - 25 3198 c.2655C>T c.(2653-2655)atC>atT p.I885I PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.I885I|PTPRD_ENST00000360074.4_Silent_p.I872I|PTPRD_ENST00000358503.5_Silent_p.I863I|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.I885I|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 885 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTCCCTTGTGGATGTCTGTAG 0.463000 TSP Lung(15;0.13) 20 18 0 0 0.062417 0 0 XPOT 11260 broad.mit.edu 37 12 64828325 64828325 + Nonsense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:64828325C>T ENST00000332707.5 + 20 3020 c.2491C>T c.(2491-2493)Caa>Taa p.Q831* NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 831 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TACTGTTATCCAAGGAGCAGT 0.353000 15 43 0 0 0.119110 0 0 DUOX2 50506 broad.mit.edu 37 15 45388058 45388058 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:45388058G>A ENST00000389039.6 - 30 4433 c.4048C>T c.(4048-4050)Cca>Tca p.P1350S DUOX2_ENST00000603300.1_Missense_Mutation_p.P1350S Q9NRD8 DUOX2_HUMAN dual oxidase 2 1350 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TTGCCCTTTGGGGATGAGTAG 0.632000 15 35 0 0 0.119110 0 0 APOB 338 broad.mit.edu 37 2 21232960 21232960 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:21232960G>A ENST00000233242.1 - 26 6907 c.6780C>T c.(6778-6780)atC>atT p.I2260I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2260 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTGTATCTGGATTCTGATTT 0.343000 223 142 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 8969339 8969339 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8969339G>A ENST00000397910.4 - 79 43208 c.43005C>T c.(43003-43005)tcC>tcT p.S14335S MUC16_ENST00000380951.5_Silent_p.S976S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14431 SEA 15. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 CTTTGTCCTGGGAATATGGTA 0.473000 43 56 0 0 0.111260 0 0 MYO19 80179 broad.mit.edu 37 17 34859798 34859798 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:34859798G>A ENST00000431794.3 - 20 2490 c.1968C>T c.(1966-1968)ttC>ttT p.F656F MYO19_ENST00000268852.9_Silent_p.F456F NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 656 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ACCGGATGGGGAAGCCAGCAG 0.632000 3 8 0 0 0.115264 0 0 MYO9B 4650 broad.mit.edu 37 19 17306052 17306052 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:17306052C>T ENST00000595618.1 + 22 3968 c.3816C>T c.(3814-3816)ccC>ccT p.P1272P MYO9B_ENST00000397274.2_Silent_p.P1272P|MYO9B_ENST00000594824.1_Silent_p.P1272P NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1272 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CCGAGACCCCCGAGGACAAGA 0.711000 15 34 0 0 0.132662 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151220403 151220403 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:151220403C>T ENST00000414290.2 + 7 587 c.577C>T c.(577-579)Ccc>Tcc p.P193S PIP5K1A_ENST00000409426.1_3'UTR|PIP5K1A_ENST00000441902.2_3'UTR|PIP5K1A_ENST00000368890.4_3'UTR Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 58 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) AAGATGTCAGCCCTTGCCCCA 0.458000 8 8 0 0 0.038147 0 0 KMT2D 8085 broad.mit.edu 37 12 49427579 49427579 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:49427579G>A ENST00000301067.7 - 39 10908 c.10909C>T c.(10909-10911)Cct>Tct p.P3637S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCATGGCCAGGGAGCAGCTGA 0.667000 6 16 0 0 0.029380 0 0 DNAH10 196385 broad.mit.edu 37 12 124414959 124414959 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:124414959G>A ENST00000409039.3 + 72 12294 c.12269G>A c.(12268-12270)gGa>gAa p.G4090E CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4090 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTCATGTATGGAGGACGGGCC 0.567000 5 13 0 0 0.021553 0 0 NFIC 4782 broad.mit.edu 37 19 3452490 3452490 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:3452490G>A ENST00000589123.1 + 8 1188 c.1068G>A c.(1066-1068)cgG>cgA p.R356R NFIC_ENST00000586919.1_Silent_p.R332R|NFIC_ENST00000443272.2_Silent_p.R365R|NFIC_ENST00000346156.5_Silent_p.R332R|NFIC_ENST00000341919.3_Silent_p.R365R|NFIC_ENST00000590282.1_Silent_p.R365R|NFIC_ENST00000395111.3_Silent_p.R356R NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 365 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GGATCGCCCGGAGCCCACACC 0.647000 81 248 0 0 0.139131 0 0 IGHA2 3494 broad.mit.edu 37 14 106053600 106053600 + RNA SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:106053600C>T ENST00000390539.2 - 0 696 GTCAGCGTCACCAGCTCGTTC 0.667000 11 28 0 0 0.119110 0 0 MAP7D2 256714 broad.mit.edu 37 X 20034251 20034251 + Silent SNP T T C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:20034251T>C ENST00000379651.3 - 10 1500 c.1482A>G c.(1480-1482)caA>caG p.Q494Q MAP7D2_ENST00000443379.3_Silent_p.Q449Q|MAP7D2_ENST00000379643.5_Silent_p.Q535Q|MAP7D2_ENST00000543767.1_Silent_p.Q379Q|MAP7D2_ENST00000452324.3_Silent_p.Q442Q NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 494 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 tttcttgttcttgcttttctt 0.428000 6 10 0 0 0.021553 0 0 ABCC12 94160 broad.mit.edu 37 16 48125042 48125042 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:48125042C>T ENST00000311303.3 - 23 3619 c.3274G>A c.(3274-3276)Gaa>Aaa p.E1092K ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1092 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GAAATGTATTCCCTGAGCAGC 0.498000 54 111 0 0 0.139131 0 0 OR9A4 130075 broad.mit.edu 37 7 141618923 141618923 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:141618923G>A ENST00000548136.1 + 1 307 c.248G>A c.(247-249)gGa>gAa p.G83E MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ATGCTTTGGGGATTGCTGCTC 0.517000 37 109 0 0 0.064281 0 0 MUC16 94025 broad.mit.edu 37 19 9048053 9048053 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:9048053G>A ENST00000397910.4 - 5 33781 c.33578C>T c.(33577-33579)tCa>tTa p.S11193L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11195 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TGGAATGGCTGAAATCATCTT 0.448000 11 11 0 0 0.093190 0 0 FAM179A 165186 broad.mit.edu 37 2 29240795 29240795 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:29240795G>A ENST00000379558.4 + 10 1684 c.1333G>A c.(1333-1335)Gag>Aag p.E445K FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 445 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGCCGGCAGGAGCCCCGCTT 0.687000 12 6 0 0 0.105934 0 0 TLN2 83660 broad.mit.edu 37 15 62967500 62967500 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:62967500G>A ENST00000561311.1 + 10 1167 c.937G>A c.(937-939)Gtg>Atg p.V313M TLN2_ENST00000306829.6_Missense_Mutation_p.V313M Q9Y4G6 TLN2_HUMAN talin 2 313 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CACATATGGCGTGTCCTTCTT 0.502000 23 50 0 0 0.108266 0 0 ARC 23237 broad.mit.edu 37 8 143695445 143695445 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:143695445C>T ENST00000356613.2 - 1 1388 c.188G>A c.(187-189)gGg>gAg p.G63E NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 63 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) CCGGTGCAGCCCCTTCAGCTC 0.682000 6 17 0 0 0.038147 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16877421 16877421 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:16877421G>A ENST00000355661.3 - 5 356 c.346C>T c.(346-348)Ccg>Tcg p.P116S PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P116S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P116S|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 116 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 ATGCTGGACGGTCTTTGGTTT 0.552000 72 126 0 0 0.139131 0 0 STX1B 112755 broad.mit.edu 37 16 31012906 31012906 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:31012906C>T ENST00000215095.5 - 2 280 c.49G>A c.(49-51)Gaa>Aaa p.E17K STX1B_ENST00000565419.1_Missense_Mutation_p.E17K NM_052874.3 NP_443106.1 P61266 STX1B_HUMAN syntaxin 1B 17 E -> K (in Ref. 1; BAA07152). intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 ACCTCCTCTTCATCATCACTG 0.617000 17 25 0 0 0.049695 0 0 HTR5A 3361 broad.mit.edu 37 7 154876005 154876005 + Silent SNP C C T rs145653373 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:154876005C>T ENST00000287907.2 + 2 1458 c.882C>T c.(880-882)ttC>ttT p.F294F HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 294 integral to plasma membrane serotonin receptor activity p.F294L(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TTGGCGTGTTCGTGCTCTGCT 0.622000 34 65 0 0 0.064281 0 0 SPTBN4 57731 broad.mit.edu 37 19 41021331 41021331 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:41021331C>T ENST00000352632.3 + 15 2965 c.2879C>T c.(2878-2880)tCc>tTc p.S960F SPTBN4_ENST00000598249.1_Missense_Mutation_p.S960F|SPTBN4_ENST00000595535.1_Missense_Mutation_p.S960F|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S960F|SPTBN4_ENST00000338932.3_Missense_Mutation_p.S960F Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 960 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTGCGTTCCTGCCAGGAC 0.607000 8 8 0 0 0.038147 0 0 GPR123 84435 broad.mit.edu 37 10 134910573 134910573 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:134910573G>A ENST00000607359.1 + 12 2259 c.2259G>A c.(2257-2259)ctG>ctA p.L753L GPR123_ENST00000392607.3_Silent_p.L33L Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 33 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TCTGCCTCCTGGCCTCCTTCG 0.622000 25 26 0 0 0.091800 0 0 MUC4 4585 broad.mit.edu 37 3 195491985 195491985 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:195491985C>T ENST00000463781.3 - 10 14266 c.13807G>A c.(13807-13809)Ggc>Agc p.G4603S MUC4_ENST00000475231.1_Missense_Mutation_p.G4551S|MUC4_ENST00000346145.4_Missense_Mutation_p.G367S|MUC4_ENST00000349607.4_Missense_Mutation_p.G316S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1360 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGCCGAGGCCCCAGCGACCT 0.662000 12 12 0 0 0.080935 0 0 TICAM2 353376 broad.mit.edu 37 5 114916853 114916853 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:114916853G>A ENST00000408996.4 - 4 994 c.608C>T c.(607-609)tCc>tTc p.S203F TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.S203F|TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.S34F NM_001164468.2|NM_001164469.2 NP_001157940.1|NP_001157941.1 toll-like receptor adaptor molecule 2 cervix(1)|kidney(1)|lung(2)|soft_tissue(1) 5 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05) AGACTTCTTGGAATCTGACTC 0.468000 43 95 0 0 0.104719 0 0 GRIK3 2899 broad.mit.edu 37 1 37291238 37291238 + Missense_Mutation SNP G G T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:37291238G>T ENST00000373091.3 - 11 1736 c.1720C>A c.(1720-1722)Ctg>Atg p.L574M GRIK3_ENST00000373093.4_Missense_Mutation_p.L574M NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 574 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CTGACCCCCAGGTAGGCGAGG 0.567000 14 21 1.05317e-09 1.08466e-09 0.119110 1 0 DHX16 8449 broad.mit.edu 37 6 30627339 30627339 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:30627339G>A ENST00000376442.3 - 12 2112 c.1917C>T c.(1915-1917)atC>atT p.I639I DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Silent_p.I158I NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 639 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 GGAGCTCCCGGATTTTGGAGC 0.612000 9 18 0 0 0.047766 0 0 TEX101 83639 broad.mit.edu 37 19 43922358 43922358 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:43922358G>A ENST00000602198.1 + 8 1055 c.613G>A c.(613-615)Gcc>Acc p.A205T TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.A205T|TEX101_ENST00000598265.1_Missense_Mutation_p.A187T NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 187 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) AGGCTGTACAGCCATGATTGG 0.507000 30 66 0 0 0.144211 0 0 ZNF676 163223 broad.mit.edu 37 19 22363885 22363885 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:22363885G>A ENST00000397121.2 - 3 951 c.634C>T c.(634-636)Ctt>Ttt p.L212F NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 212 KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TGTTTAGTAAGGATTGAGAAC 0.353000 14 28 0 0 0.105934 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846162 43846162 + Missense_Mutation SNP T T C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:43846162T>C ENST00000389420.3 - 14 1993 c.1994A>G c.(1993-1995)tAt>tGt p.Y665C ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y665C NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 665 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TAGGTAGAAATAATTGGTTCC 0.338000 22 34 0 0 0.062417 0 0 IL15RA 3601 broad.mit.edu 37 10 5995144 5995144 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:5995144C>T ENST00000525219.2 - 7 904 c.610G>A c.(610-612)Gaa>Aaa p.E204K IL15RA_ENST00000528354.1_Missense_Mutation_p.E207K|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Missense_Mutation_p.E204K|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000379977.3_Missense_Mutation_p.E240K|IL15RA_ENST00000397250.2_Missense_Mutation_p.E142K|IL15RA_ENST00000397251.3_Missense_Mutation_p.E175K NM_001243539.1 NP_001230468.1 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha 240 cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 GCTTCCATTTCAACGCTGGCC 0.547000 42 58 0 0 0.139131 0 0 CRISP3 10321 broad.mit.edu 37 6 49703299 49703299 + Nonsense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:49703299C>T ENST00000433368.2 - 4 333 c.264G>A c.(262-264)tgG>tgA p.W88* CRISP3_ENST00000371159.4_Nonsense_Mutation_p.W96*|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.W78*|CRISP3_ENST00000393666.1_Nonsense_Mutation_p.W65* NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 65 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CCTCTTTGTTCCATTCCTGAA 0.378000 37 57 0 0 0.086207 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762876 130762876 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:130762876G>A ENST00000392429.1 + 2 3687 c.1309G>A c.(1309-1311)Gaa>Aaa p.E437K TMEM200A_ENST00000296978.3_Missense_Mutation_p.E437K|TMEM200A_ENST00000545622.1_Missense_Mutation_p.E437K NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 437 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGAGAACAAAGAAGACCCGAT 0.423000 22 33 0 0 0.069288 0 0 TLR9 54106 broad.mit.edu 37 3 52257979 52257979 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:52257979G>A ENST00000597542.1 - 9 1382 c.425C>T c.(424-426)aCc>aTc p.T142I TLR9_ENST00000494383.1_Silent_p.H271H|TLR9_ENST00000360658.2_Missense_Mutation_p.T118I Q9NR96 TLR9_HUMAN toll-like receptor 9 118 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AGCCAAGAAGGTGCTGGGCTC 0.602000 53 90 0 0 0.139131 0 0 OR52N4 390072 broad.mit.edu 37 11 5776500 5776500 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:5776500C>T ENST00000317254.3 + 1 578 c.530C>T c.(529-531)cCc>cTc p.P177L TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) AATATACTTCCCCATACCTAC 0.493000 33 59 0 0 0.045705 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266137 41266137 + Missense_Mutation SNP C C G rs121913409 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:41266137C>G ENST00000349496.5 + 3 414 c.134C>G c.(133-135)tCt>tGt p.S45C CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38C NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 45 Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S45F(384)|p.S45del(53)|p.A5_A80del(53)|p.S45C(19)|p.S45Y(17)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.S45_S47>C(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.S45fs*2(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACAGCTCCTTCTCTGAGTGGT 0.498000 S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 15 26 0 0 0.119110 0 0 PSG7 5676 broad.mit.edu 37 19 43439606 43439606 + RNA SNP C C T rs146684607 by1000genomes TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:43439606C>T ENST00000406070.2 - 0 476 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CCCATCACCTCGCTTTATGAT 0.493000 107 358 0 0 0.139131 0 0 PHACTR2 9749 broad.mit.edu 37 6 144086817 144086817 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:144086817G>A ENST00000427704.2 + 6 1211 c.1081G>A c.(1081-1083)Gct>Act p.A361T PHACTR2_ENST00000367584.4_Missense_Mutation_p.A349T|PHACTR2_ENST00000305766.6_Missense_Mutation_p.A281T|PHACTR2_ENST00000367582.3_Missense_Mutation_p.A292T|PHACTR2_ENST00000440869.2_Missense_Mutation_p.A372T NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 361 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CAGCGTTGGAGCTGACCTGCC 0.567000 38 58 0 0 0.092188 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 22 37 0 0 0.099896 0 0 BTN2A1 11120 broad.mit.edu 37 6 26458872 26458872 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:26458872C>T ENST00000429381.1 + 2 220 c.8C>T c.(7-9)tCa>tTa p.S3L BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S3L Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 3 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 CTCATGGAATCAGCTGCTGCC 0.622000 4 84 0 0 0.021553 0 0 ERC2 26059 broad.mit.edu 37 3 56173549 56173549 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:56173549G>A ENST00000288221.6 - 6 1716 c.1461C>T c.(1459-1461)atC>atT p.I487I NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 487 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CAGTCTGAAGGATGGCAGCCC 0.433000 14 30 0 0 0.033300 0 0 C8orf34 116328 broad.mit.edu 37 8 69358599 69358599 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:69358599G>A ENST00000337103.4 + 2 1770 c.178G>A c.(178-180)Gat>Aat p.D60N C8orf34_ENST00000518698.1_Missense_Mutation_p.D171N|C8orf34_ENST00000523686.1_Missense_Mutation_p.D85N|C8orf34_ENST00000539993.1_Missense_Mutation_p.D85N|C8orf34_ENST00000348340.2_Missense_Mutation_p.D85N|C8orf34_ENST00000349492.3_3'UTR Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 85 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAGAAGCTATGATAAACCTTG 0.338000 49 34 0 0 0.139131 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 34 0 0 0.009096 0 0 RNF17 56163 broad.mit.edu 37 13 25349022 25349022 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:25349022G>A ENST00000255324.5 + 3 349 c.297G>A c.(295-297)atG>atA p.M99I RNF17_ENST00000255325.5_Missense_Mutation_p.M99I|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.M99I NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 99 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACTCCATAATGGAAAAACTGC 0.323000 10 20 0 0 0.058154 0 0 DNAH1 25981 broad.mit.edu 37 3 52395225 52395225 + Silent SNP T T C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:52395225T>C ENST00000420323.2 + 29 4992 c.4731T>C c.(4729-4731)ggT>ggC p.G1577G NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1577 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGTTTGGGGGTGCCCCAGCTG 0.617000 8 20 0 0 0.047766 0 0 GFRAL 389400 broad.mit.edu 37 6 55216215 55216215 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:55216215C>T ENST00000340465.2 + 5 621 c.535C>T c.(535-537)Cct>Tct p.P179S NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 179 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCAAAATATACCTTTTAACAT 0.433000 42 94 0 0 0.124865 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473188 22473188 + RNA SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:22473188G>A ENST00000557788.2 - 0 82 CACCAGTCCTGGGCCCGACTC 0.622000 30 109 0 0 0.045705 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442574 25442574 + RNA SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:25442574G>A ENST00000424208.1 + 0 1550 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 CTGGCCCCGGGAAAATGTCCC 0.602000 6 12 0 0 0.021553 0 0 DACT1 51339 broad.mit.edu 37 14 59113545 59113545 + Missense_Mutation SNP A A G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:59113545A>G ENST00000395153.3 + 4 2240 c.2093A>G c.(2092-2094)cAc>cGc p.H698R DACT1_ENST00000541264.2_Missense_Mutation_p.H454R|DACT1_ENST00000556859.1_Missense_Mutation_p.H454R|DACT1_ENST00000395151.3_Missense_Mutation_p.H454R|DACT1_ENST00000335867.4_Missense_Mutation_p.H735R NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 735 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TCCCTGTTCCACTCCACCGTG 0.652000 30 76 0 0 0.050027 0 0 GZF1 64412 broad.mit.edu 37 20 23350250 23350250 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:23350250G>A ENST00000338121.5 + 5 1734 c.1657G>A c.(1657-1659)Ggc>Agc p.G553S GZF1_ENST00000542987.1_Missense_Mutation_p.G62S|GZF1_ENST00000377051.2_Missense_Mutation_p.G553S|GZF1_ENST00000544236.1_Missense_Mutation_p.G77S Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 553 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGACCAGTGCGGCAAGCAGTT 0.597000 59 121 0 0 0.139131 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819826 70819826 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:70819826G>A ENST00000370944.4 - 1 579 c.266C>T c.(265-267)tCc>tTc p.S89F ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S89F NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 89 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 CGGGGACTGGGAGTTGGCAGT 0.672000 49 92 0 0 0.139131 0 0 ABCF1 23 broad.mit.edu 37 6 30552334 30552334 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:30552334C>T ENST00000326195.8 + 14 1494 c.1382C>T c.(1381-1383)tCc>tTc p.S461F ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S423F NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 461 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 ATGCGTGTCTCCCTGGCCAGG 0.607000 26 48 0 0 0.045705 0 0 CALML5 51806 broad.mit.edu 37 10 5541195 5541195 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:5541195G>A ENST00000380332.3 - 1 338 c.207C>T c.(205-207)ttC>ttT p.F69F NM_017422.4 NP_059118.2 Q9NZT1 CALL5_HUMAN calmodulin-like 5 69 EF-hand 2. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 CCGCCGTCAGGAACTCCTGGA 0.657000 18 37 0 0 0.043863 0 0 TCEA3 6920 broad.mit.edu 37 1 23743760 23743760 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:23743760C>T ENST00000450454.2 - 4 468 c.362G>A c.(361-363)cGa>cAa p.R121Q TCEA3_ENST00000374601.3_Missense_Mutation_p.R121Q|TCEA3_ENST00000461794.1_Missense_Mutation_p.R84Q NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 121 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) GGGGTCTTCTCGTTTTTTCCT 0.443000 32 30 0 0 0.059317 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564501 66564501 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:66564501G>A ENST00000360242.5 + 6 1216 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E367K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E367K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E367K NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 367 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GGACAAGAGGGAAATACTTGA 0.403000 32 67 0 0 0.064281 0 0 ARGFX 503582 broad.mit.edu 37 3 121305437 121305437 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:121305437G>A ENST00000334384.3 + 4 948 c.938G>A c.(937-939)gGa>gAa p.G313E NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 313 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GTAGACTTGGGATTTCTCTGA 0.403000 19 42 0 0 0.055883 0 0 TFEC 22797 broad.mit.edu 37 7 115580888 115580888 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:115580888G>A ENST00000265440.7 - 8 941 c.761C>T c.(760-762)cCt>cTt p.P254L TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.P225L|TFEC_ENST00000457268.1_Missense_Mutation_p.P187L NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) ATTCTGCTCAGGATGGCTCTG 0.493000 58 95 0 0 0.139131 0 0 OR51E2 81285 broad.mit.edu 37 11 4703846 4703846 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:4703846G>A ENST00000396950.3 - 2 335 c.96C>T c.(94-96)tcC>tcT p.S32S NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CTACATACATGGAAAGGAGGG 0.498000 21 37 0 0 0.062417 0 0 CDH20 28316 broad.mit.edu 37 18 59174649 59174649 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:59174649C>T ENST00000262717.4 + 6 1271 c.873C>T c.(871-873)tcC>tcT p.S291S CDH20_ENST00000536675.2_Silent_p.S291S|CDH20_ENST00000538374.1_Silent_p.S291S Q9HBT6 CAD20_HUMAN cadherin 20, type 2 291 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CAATTAGCTCCACTGTCGGGA 0.428000 17 84 0 0 0.038395 0 0 FSTL5 56884 broad.mit.edu 37 4 162307342 162307342 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:162307342G>A ENST00000306100.5 - 16 2537 c.2101C>T c.(2101-2103)Cca>Tca p.P701S FSTL5_ENST00000427802.2_Missense_Mutation_p.P691S|FSTL5_ENST00000536695.1_Missense_Mutation_p.P700S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.P700S NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 701 extracellular region calcium ion binding 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) TGGCCATCTGGAGAGACATAT 0.463000 19 50 0 0 0.043863 0 0 PLCB3 5331 broad.mit.edu 37 11 64026164 64026164 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:64026164C>T ENST00000540288.1 + 11 1335 c.1232C>T c.(1231-1233)tCc>tTc p.S411F PLCB3_ENST00000325234.5_Missense_Mutation_p.S344F|PLCB3_ENST00000279230.6_Missense_Mutation_p.S411F NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 411 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GTCATCCTCTCCTTCGAGAAC 0.612000 34 48 0 0 0.064281 0 0 STRN 6801 broad.mit.edu 37 2 37111155 37111155 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:37111155G>A ENST00000263918.4 - 9 1114 c.1106C>T c.(1105-1107)tCa>tTa p.S369L STRN_ENST00000379213.2_Missense_Mutation_p.S320L NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 369 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TGGCTGCAATGAAGGAAGTTC 0.433000 13 7 0 0 0.093190 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866358 140866358 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:140866358C>T ENST00000306593.1 + 1 1618 c.1618C>T c.(1618-1620)Cgg>Tgg p.R540W PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCCGGGATCGGGGCAACCC 0.562000 51 89 0 0 0.139131 0 0 DSG2 1829 broad.mit.edu 37 18 29102174 29102174 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:29102174G>A ENST00000261590.8 + 6 861 c.652G>A c.(652-654)Gga>Aga p.G218R DSG2_ENST00000585206.1_Missense_Mutation_p.G218R NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 218 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TAAAGATACAGGAGAGATTTA 0.393000 19 32 0 0 0.055883 0 0 SRC 6714 broad.mit.edu 37 20 36022382 36022382 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:36022382C>T ENST00000373578.2 + 6 784 c.435C>T c.(433-435)tcC>tcT p.S145S SRC_ENST00000360723.4_Silent_p.S151S|SRC_ENST00000373567.2_Silent_p.S145S|SRC_ENST00000358208.4_Silent_p.S145S|SRC_ENST00000373558.2_Silent_p.S151S|SRC_ENST00000445403.1_Silent_p.S145S NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 145 SH3. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) CCTCCGACTCCATCCAGGCTG 0.642000 6 14 0 0 0.038147 0 0 PCSK1 5122 broad.mit.edu 37 5 95757600 95757600 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:95757600G>A ENST00000311106.3 - 5 841 c.604C>T c.(604-606)Ccc>Tcc p.P202S CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.P155S NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 202 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCGTTTGTGGGATCATATCGG 0.328000 30 99 0 0 0.059317 0 0 TCEA2 6919 broad.mit.edu 37 20 62700770 62700770 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:62700770C>T ENST00000395053.3 + 5 541 c.386C>T c.(385-387)cCt>cTt p.P129L TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.P102L|TCEA2_ENST00000343484.5_Missense_Mutation_p.P129L Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 129 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) ACCACATTTCCTCCGGTGCCT 0.672000 10 6 0 0 0.058154 0 0 FBLN5 10516 broad.mit.edu 37 14 92357594 92357594 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:92357594G>A ENST00000267620.10 - 7 882 c.713C>T c.(712-714)aCc>aTc p.T238I FBLN5_ENST00000556154.1_Missense_Mutation_p.T202I|FBLN5_ENST00000342058.4_Missense_Mutation_p.T197I Q9UBX5 FBLN5_HUMAN fibulin 5 197 EGF-like 4; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) CTCATTGAGGGTAAAACCAGG 0.478000 19 31 0 0 0.043863 0 0 DNAH5 1767 broad.mit.edu 37 5 13809263 13809263 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:13809263C>T ENST00000265104.4 - 46 7746 c.7642G>A c.(7642-7644)Gaa>Aaa p.E2548K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2548 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TACAGGTATTCCTGGGTACGC 0.438000 Kartagener syndrome 51 85 0 0 0.139131 0 0 OSBPL7 114881 broad.mit.edu 37 17 45895675 45895675 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:45895675G>A ENST00000007414.3 - 7 749 c.558C>T c.(556-558)tcC>tcT p.S186S OSBPL7_ENST00000392507.3_Silent_p.S186S NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 186 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 CCCTCAGCCAGGAAGACACTT 0.647000 32 63 0 0 0.074837 0 0 MAGED1 9500 broad.mit.edu 37 X 51639952 51639952 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:51639952C>T ENST00000375695.2 + 5 1522 c.1369C>T c.(1369-1371)Cct>Tct p.P457S MAGED1_ENST00000375772.3_Missense_Mutation_p.P401S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P401S|MAGED1_ENST00000375722.1_Missense_Mutation_p.P401S|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 401 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CTGGCAAGGTCCTCCTGACTG 0.647000 Multiple Myeloma(10;0.10) 5 13 0 0 0.014758 0 0 FAM13C 220965 broad.mit.edu 37 10 61007471 61007471 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:61007471G>A ENST00000373867.3 - 15 1874 c.1409C>T c.(1408-1410)cCa>cTa p.P470L PHYHIPL_ENST00000373880.4_3'UTR|FAM13C_ENST00000468840.2_Missense_Mutation_p.P471L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P575L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P574L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P456L|PHYHIPL_ENST00000373878.3_3'UTR|FAM13C_ENST00000373868.2_Missense_Mutation_p.P554L NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 554 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATCTGCCATTGGTATCCTATC 0.328000 32 18 0 0 0.045705 0 0 PLXDC2 84898 broad.mit.edu 37 10 20335859 20335859 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:20335859G>A ENST00000377252.3 + 3 1227 c.386G>A c.(385-387)cGg>cAg p.R129Q PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Intron NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 129 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TCTGCCAGCCGGGATTTATGG 0.373000 32 66 0 0 0.045705 0 0 ZNF74 7625 broad.mit.edu 37 22 20759962 20759962 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr22:20759962C>T ENST00000400451.2 + 5 1153 c.639C>T c.(637-639)gcC>gcT p.A213A ZNF74_ENST00000356671.5_Silent_p.A213A|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Silent_p.A181A|ZNF74_ENST00000403682.3_3'UTR NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 213 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GAACCAAGGCCCCCGCGAGAC 0.697000 13 16 0 0 0.105934 0 0 EPGN 255324 broad.mit.edu 37 4 75174855 75174855 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:75174855C>T ENST00000413830.1 + 2 150 c.89C>T c.(88-90)cCa>cTa p.P30L EPGN_ENST00000509145.1_Intron|EPGN_ENST00000503098.1_Missense_Mutation_p.P30L|EPGN_ENST00000502358.1_Missense_Mutation_p.P30L|EPGN_ENST00000332112.4_Missense_Mutation_p.P30L|EPGN_ENST00000505212.1_Missense_Mutation_p.P30L|EPGN_ENST00000514968.1_Missense_Mutation_p.P30L NM_001270989.1 NP_001257918.1 Q6UW88 EPGN_HUMAN epithelial mitogen 30 activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis extracellular region|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity breast(3)|liver(1)|lung(1)|skin(1) 6 Lung(101;0.196) GTAACACCTCCAATCACAGCC 0.428000 33 57 0 0 0.064281 0 0 ACTL9 284382 broad.mit.edu 37 19 8808458 8808458 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8808458C>T ENST00000324436.3 - 1 714 c.594G>A c.(592-594)acG>acA p.T198T NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 198 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CCCCGTGTCCCGTGTCCACCA 0.667000 15 26 0 0 0.033300 0 0 TK2 7084 broad.mit.edu 37 16 66570869 66570869 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:66570869G>A ENST00000299697.7 - 4 633 c.409C>T c.(409-411)Ctg>Ttg p.L137L TK2_ENST00000527800.1_5'UTR|TK2_ENST00000527284.1_Silent_p.L64L|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000564917.1_Silent_p.L95L|TK2_ENST00000417693.3_Intron|TK2_ENST00000545043.2_Silent_p.L70L|TK2_ENST00000544898.1_Silent_p.L46L|TK2_ENST00000451102.2_Silent_p.L95L|TK2_ENST00000563369.2_5'UTR NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4 NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial 95 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity large_intestine(1)|lung(2)|urinary_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) CCACTCACCAGAGGATTGTGG 0.542000 36 71 0 0 0.098360 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103566849 103566849 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:103566849G>A ENST00000380069.3 + 1 369 c.293G>A c.(292-294)gGc>gAc p.G98D NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 98 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CCAGCTACCGGCCATTCCCAG 0.632000 3 28 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179584144 179584144 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:179584144C>T ENST00000589042.1 - 83 24197 c.23973G>A c.(23971-23973)ctG>ctA p.L7991L TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.L6747L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L7674L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7674 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACGTCTTTCAGCTTGCGGA 0.517000 37 30 0 0 0.092188 0 0 PPT1 5538 broad.mit.edu 37 1 40539851 40539851 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:40539851C>T ENST00000433473.3 - 9 1267 c.803G>A c.(802-804)cGc>cAc p.R268H PPT1_ENST00000530076.1_Missense_Mutation_p.R49H|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Missense_Mutation_p.R165H NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 268 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TAGCCCCAGGCGGTCCTGCAG 0.403000 4 60 0 0 0.021553 0 0 TRIM9 114088 broad.mit.edu 37 14 51464813 51464813 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:51464813C>T ENST00000298355.3 - 7 2679 c.1558G>A c.(1558-1560)Gga>Aga p.G520R TRIM9_ENST00000360392.4_Missense_Mutation_p.G520R|TRIM9_ENST00000338969.5_Missense_Mutation_p.G516R NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 520 Fibronectin type-III. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) GGGCTGACTCCTGTTTTGTTG 0.537000 20 21 0 0 0.049695 0 0 CD1E 913 broad.mit.edu 37 1 158325195 158325195 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:158325195C>T ENST00000444681.2 + 2 457 c.164C>T c.(163-165)tCc>tTc p.S55F CD1E_ENST00000368167.3_Missense_Mutation_p.S154F|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.S154F|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S152F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S154F|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.S154F NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 154 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CAAGGAATTTCCTGGGAGCCA 0.448000 33 57 0 0 0.054565 0 0 KSR1 8844 broad.mit.edu 37 17 25932546 25932546 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:25932546G>A ENST00000398988.3 + 16 1801 c.1356G>A c.(1354-1356)cgG>cgA p.R452R KSR1_ENST00000509603.2_Silent_p.R567R|KSR1_ENST00000268763.6_Silent_p.R452R|KSR1_ENST00000319524.6_Silent_p.R589R NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 587 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGCCCTGGCGGGGCCCCATCT 0.662000 7 3 0 0 0.029380 0 0 MT4 84560 broad.mit.edu 37 16 56601683 56601683 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:56601683G>A ENST00000219162.3 + 2 132 c.52G>A c.(52-54)Gac>Aac p.D18N NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 18 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 CATGTGTGGAGACAACTGCAA 0.498000 27 57 0 0 0.050027 0 0 NLRP13 126204 broad.mit.edu 37 19 56413429 56413429 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:56413429G>A ENST00000588751.1 - 9 2785 c.2761C>T c.(2761-2763)Cgc>Tgc p.R921C NLRP13_ENST00000342929.3_Missense_Mutation_p.R921C Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 921 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCATCTGGGCGACCCAAGGCC 0.547000 19 110 0 0 0.055883 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947944 21947944 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:21947944G>A ENST00000406877.3 - 4 764 c.485C>T c.(484-486)tCt>tTt p.S162F CDCA7L_ENST00000356195.5_Missense_Mutation_p.S128F|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S116F NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 162 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CTGCTCGGAAGAACTGTTTTT 0.418000 13 30 0 0 0.105934 0 0 NMRAL1 57407 broad.mit.edu 37 16 4511823 4511823 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:4511823G>A ENST00000574733.1 - 6 1587 c.858C>T c.(856-858)gaC>gaT p.D286D NMRAL1_ENST00000283429.6_Silent_p.D286D|NMRAL1_ENST00000574425.1_Silent_p.D286D|NMRAL1_ENST00000404295.3_Silent_p.D286D Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 286 nucleus|perinuclear region of cytoplasm binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1) 15 CCAGCCACTGGTCCAGCGTCA 0.647000 58 102 0 0 0.139131 0 0 CD5L 922 broad.mit.edu 37 1 157803140 157803140 + Missense_Mutation SNP G G T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:157803140G>T ENST00000368174.4 - 5 977 c.881C>A c.(880-882)tCc>tAc p.S294Y NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 294 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTCTCTGAAGGAGGGAGAGAG 0.587000 32 64 8.4185e-14 8.81668e-14 0.050027 1 0 TSHZ2 128553 broad.mit.edu 37 20 51872096 51872096 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:51872096C>T ENST00000371497.5 + 2 2986 c.2099C>T c.(2098-2100)tCc>tTc p.S700F TSHZ2_ENST00000603338.2_Missense_Mutation_p.S697F|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S697F NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 700 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GCCCTGCAGTCCGTCCTGAAC 0.612000 16 31 0 0 0.146539 0 0 OR2L13 284521 broad.mit.edu 37 1 248262875 248262875 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:248262875C>T ENST00000366478.2 + 3 535 c.198C>T c.(196-198)tcC>tcT p.S66S OR2L13_ENST00000358120.2_Silent_p.S66S NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCCAGCTCTCCCTTATGGACC 0.537000 47 102 0 0 0.139131 0 0 FBN3 84467 broad.mit.edu 37 19 8194032 8194032 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8194032C>T ENST00000600128.1 - 18 2590 c.2176G>A c.(2176-2178)Gat>Aat p.D726N FBN3_ENST00000601739.1_Missense_Mutation_p.D726N|FBN3_ENST00000270509.2_Missense_Mutation_p.D726N Q75N90 FBN3_HUMAN fibrillin 3 726 EGF-like 9; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCACACTCATCCACGTCTGTG 0.652000 45 85 0 0 0.139131 0 0 IST1 9798 broad.mit.edu 37 16 71950427 71950427 + Nonsense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:71950427C>T ENST00000378799.6 + 3 507 c.151C>T c.(151-153)Cga>Tga p.R51* IST1_ENST00000329908.8_Nonsense_Mutation_p.R51*|IST1_ENST00000535424.1_Nonsense_Mutation_p.R64*|IST1_ENST00000606369.1_Intron|IST1_ENST00000378798.5_Nonsense_Mutation_p.R51*|IST1_ENST00000544564.1_Nonsense_Mutation_p.R51*|IST1_ENST00000541571.2_Nonsense_Mutation_p.R51*|IST1_ENST00000538850.1_Intron|IST1_ENST00000538565.1_Intron|RP11-498D10.4_ENST00000568581.1_Nonsense_Mutation_p.R51* NM_001270975.1 NP_001257904.1 P53990 IST1_HUMAN increased sodium tolerance 1 homolog (yeast) 51 Interaction with CHMP1A and CHMP1B. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding GAAAGATGAACGAGCTCGGAT 0.547000 14 35 0 0 0.119110 0 0 OR51L1 119682 broad.mit.edu 37 11 5020909 5020909 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:5020909C>T ENST00000321543.1 + 1 697 c.697C>T c.(697-699)Cgt>Tgt p.R233C NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TATTGCATCTCGTGAAGAGCA 0.418000 21 37 0 0 0.049695 0 0 AKR1B1 231 broad.mit.edu 37 7 134136347 134136347 + Silent SNP G G A rs115549384 by1000genomes TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:134136347G>A ENST00000285930.4 - 2 304 c.225C>T c.(223-225)atC>atT p.I75I AKR1B1_ENST00000489022.1_5'UTR NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 75 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CCTTGCTGACGATGAAGAGCT 0.562000 26 64 0 0 0.134883 0 0 RMDN2 151393 broad.mit.edu 37 2 38224657 38224657 + Splice_Site SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:38224657G>A ENST00000407257.1 + 8 1725 c.1578_splice c.e8+1 p.K526_splice RMDN2_ENST00000417700.2_Splice_Site_p.K203_splice|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Splice_Site_p.K348_splice|RMDN2_ENST00000354545.2_Splice_Site_p.K348_splice|RMDN2_ENST00000234195.3_Splice_Site_p.K526_splice regulator of microtubule dynamics 2 ATTTCCTTAAGGTACATTTTG 0.398000 21 11 0 0 0.049695 0 0 LRRTM2 26045 broad.mit.edu 37 5 138208984 138208984 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:138208984C>T ENST00000274711.6 - 2 1644 c.1266G>A c.(1264-1266)cgG>cgA p.R422R CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000518825.1_Intron NM_015564.2 NP_056379.1 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 422 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCGTAATTACCCGCTGAGTGA 0.408000 44 84 0 0 0.139131 0 0 KATNAL1 84056 broad.mit.edu 37 13 30805462 30805462 + Silent SNP A A G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:30805462A>G ENST00000380615.3 - 7 1041 c.874T>C c.(874-876)Ttg>Ctg p.L292L KATNAL1_ENST00000380617.3_Silent_p.L292L NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 292 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) ATCTCAAACAACAGACGAACT 0.398000 27 48 0 0 0.108266 0 0 NCAN 1463 broad.mit.edu 37 19 19337555 19337555 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:19337555G>A ENST00000252575.5 + 7 1376 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 445 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GCCCACTGGGGAAGTGTGGCT 0.617000 14 14 0 0 0.132662 0 0 OTOGL 283310 broad.mit.edu 37 12 80732982 80732982 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:80732982G>A ENST00000458043.2 + 42 4967 c.4961G>A c.(4960-4962)gGa>gAa p.G1654E OTOGL_ENST00000547103.1_Missense_Mutation_p.G1642E NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CATCTTACAGGAATCATAGAC 0.408000 72 142 0 0 0.139131 0 0 FREM1 158326 broad.mit.edu 37 9 14812992 14812992 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:14812992C>T ENST00000380881.4 - 17 3529 c.2714G>A c.(2713-2715)gGa>gAa p.G905E FREM1_ENST00000380880.3_Missense_Mutation_p.G904E|FREM1_ENST00000422223.2_Missense_Mutation_p.G904E Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 904 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CACCTCTCCTCCCTCTGAGCA 0.463000 54 38 0 0 0.139131 0 0 FAM86EP 348926 broad.mit.edu 37 4 3945031 3945031 + RNA SNP A A G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:3945031A>G ENST00000313946.8 - 0 1300 GCCATCTCCAAGTGCTCTTTG 0.483000 18 59 0 0 0.049695 0 0 FBN3 84467 broad.mit.edu 37 19 8190879 8190879 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:8190879G>A ENST00000600128.1 - 22 3042 c.2628C>T c.(2626-2628)ttC>ttT p.F876F FBN3_ENST00000601739.1_Silent_p.F876F|FBN3_ENST00000270509.2_Silent_p.F876F Q75N90 FBN3_HUMAN fibrillin 3 876 EGF-like 11; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGACTCCCGGGAAGGACTCAC 0.637000 19 41 0 0 0.055883 0 0 SHANK1 50944 broad.mit.edu 37 19 51201136 51201136 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:51201136C>T ENST00000293441.1 - 12 1843 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K SHANK1_ENST00000359082.3_Missense_Mutation_p.E609K|SHANK1_ENST00000391814.1_Missense_Mutation_p.E609K NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 609 SH3. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GCCACTTCTTCCAGGCAGTCA 0.567000 12 23 0 0 0.119110 0 0 GRM7 2917 broad.mit.edu 37 3 7620138 7620138 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:7620138C>T ENST00000486284.1 + 8 1819 c.1545C>T c.(1543-1545)gtC>gtT p.V515V GRM7_ENST00000389336.4_Silent_p.V515V|GRM7_ENST00000402647.2_Silent_p.V515V|GRM7_ENST00000403881.1_Silent_p.V515V|GRM7_ENST00000357716.4_Silent_p.V515V|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 515 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GTAAAGGAGTCCGAGAGATAC 0.463000 16 21 0 0 0.146539 0 0 MUC16 94025 broad.mit.edu 37 19 9019291 9019291 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:9019291G>A ENST00000397910.4 - 23 37799 c.37596C>T c.(37594-37596)tcC>tcT p.S12532S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12534 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 GGCTTGGGAGGGAGAATGGAG 0.458000 6 20 0 0 0.038147 0 0 SUPT3H 8464 broad.mit.edu 37 6 44900436 44900436 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:44900436G>A ENST00000371460.1 - 12 1216 c.899C>T c.(898-900)gCc>gTc p.A300V SUPT3H_ENST00000371461.2_Missense_Mutation_p.A300V|SUPT3H_ENST00000306867.5_Missense_Mutation_p.A289V|SUPT3H_ENST00000371459.1_Missense_Mutation_p.A289V|SUPT3H_ENST00000371458.1_Missense_Mutation_p.A72V NM_181356.2 NP_852001.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 371 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 GCGTCGAATGGCCTCTCTGAT 0.428000 10 23 0 0 0.105934 0 0 CPNE4 131034 broad.mit.edu 37 3 131306334 131306334 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:131306334C>T ENST00000512055.1 - 12 2900 c.774G>A c.(772-774)ggG>ggA p.G258G CPNE4_ENST00000512332.1_Silent_p.G276G|CPNE4_ENST00000429747.1_Silent_p.G258G|CPNE4_ENST00000511604.1_Silent_p.G258G|CPNE4_ENST00000502818.1_Silent_p.G276G Q96A23 CPNE4_HUMAN copine IV 258 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GTACCTGTTTCCCTTCCATTG 0.453000 16 42 0 0 0.043863 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671784 176671784 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:176671784C>T ENST00000367662.3 + 9 4442 c.3278C>T c.(3277-3279)gCt>gTt p.A1093V NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1093 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAAGTTCTAGCTGAAGCTGGA 0.507000 21 44 0 0 0.062417 0 0 ALPP 250 broad.mit.edu 37 2 233244902 233244902 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:233244902C>T ENST00000392027.2 + 6 933 c.664C>T c.(664-666)Cta>Tta p.L222L AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 222 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CCAGGTGATCCTAGGTGGAGG 0.622000 28 30 0 0 0.045705 0 0 IPO5 3843 broad.mit.edu 37 13 98666328 98666328 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:98666328C>T ENST00000261574.5 + 22 2419 c.2239C>T c.(2239-2241)Ctt>Ttt p.L747F IPO5_ENST00000490680.1_Missense_Mutation_p.L729F|IPO5_ENST00000539640.1_Missense_Mutation_p.L604F NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 729 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 ATCCATGCCTCTTCTCCTGGA 0.433000 43 76 0 0 0.131918 0 0 ZMYM3 9203 broad.mit.edu 37 X 70468049 70468049 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:70468049G>A ENST00000373998.1 - 11 2635 c.1938C>T c.(1936-1938)ctC>ctT p.L646L ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.L646L|ZMYM3_ENST00000373988.1_Silent_p.L648L|ZMYM3_ENST00000353904.2_Silent_p.L646L|ZMYM3_ENST00000373984.3_Silent_p.L648L NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 646 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CGCTGAATCGGAGTTTCTCAT 0.547000 6 20 0 0 0.029380 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68956357 68956357 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:68956357C>T ENST00000356291.2 - 3 225 c.166G>A c.(166-168)Gat>Aat p.D56N NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 56 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 AAAGACTTATCATCTGAAAGG 0.333000 21 37 0 0 0.083992 0 0 BTRC 8945 broad.mit.edu 37 10 103310575 103310575 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:103310575C>T ENST00000370187.3 + 14 1894 c.1776C>T c.(1774-1776)ccC>ccT p.P592P BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Silent_p.P556P|BTRC_ENST00000393441.4_Silent_p.P551P NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 592 P -> H (in dbSNP:rs2270439). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) AAGCTGAACCCCCCCGTTCCC 0.438000 21 23 0 0 0.076483 0 0 CHSY1 22856 broad.mit.edu 37 15 101718622 101718622 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:101718622C>T ENST00000254190.3 - 3 1855 c.1380G>A c.(1378-1380)ggG>ggA p.G460G CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 460 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCATTTTCTTCCCTTTGTGCT 0.507000 14 28 0 0 0.105934 0 0 DAPK2 23604 broad.mit.edu 37 15 64275881 64275881 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:64275881C>T ENST00000261891.3 - 2 170 c.165G>A c.(163-165)aaG>aaA p.K55K DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Silent_p.K55K|DAPK2_ENST00000558069.1_Silent_p.K55K Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 55 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) TCTGCCGCTTCTTGATGAACT 0.617000 11 27 0 0 0.119110 0 0 RGS7 6000 broad.mit.edu 37 1 240964804 240964804 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:240964804C>T ENST00000366565.1 - 17 1745 c.1364G>A c.(1363-1365)gGa>gAa p.G455E RGS7_ENST00000407727.1_Missense_Mutation_p.G455E|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000331110.7_Intron NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 455 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CATTGAGTTTCCAGACTTACG 0.328000 3 17 0 0 0.009096 0 0 GPR50 9248 broad.mit.edu 37 X 150349595 150349595 + Nonsense_Mutation SNP G G T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:150349595G>T ENST00000218316.3 + 2 1609 c.1540G>T c.(1540-1542)Gag>Tag p.E514* NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 514 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CAGCCATGCTGAGCCCACCAC 0.607000 28 103 7.76418e-22 8.15897e-22 0.108266 1 0 SLX4IP 128710 broad.mit.edu 37 20 10603436 10603436 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:10603436C>T ENST00000334534.5 + 8 816 c.636C>T c.(634-636)tcC>tcT p.S212S NM_001009608.1 NP_001009608.1 SLX4 interacting protein AGGCTTCCTCCAGTCCCCCAT 0.488000 14 49 0 0 0.119110 0 0 COL4A5 1287 broad.mit.edu 37 X 107925060 107925060 + Silent SNP C C T rs104886404 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:107925060C>T ENST00000328300.6 + 47 4402 c.4158C>T c.(4156-4158)atC>atT p.I1386I COL4A5_ENST00000361603.2_Silent_p.I1380I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1380 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CTCCAGGAATCCCTGGCCAGC 0.453000 Alport syndrome with Diffuse Leiomyomatosis 29 43 0 0 0.125774 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274114 10274114 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:10274114C>T ENST00000396573.2 - 3 464 c.155G>A c.(154-156)cGa>cAa p.R52Q GRIN2A_ENST00000404927.2_Missense_Mutation_p.R52Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R52Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R52Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R52Q NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 52 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCACAGTGTTCGAAGTTCGCG 0.682000 36 82 0 0 0.104719 0 0 TNXB 7148 broad.mit.edu 37 6 32038156 32038156 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:32038156G>A ENST00000375244.3 - 14 5227 c.5026C>T c.(5026-5028)Cgc>Tgc p.R1676C TNXB_ENST00000375247.2_Missense_Mutation_p.R1676C P22105 TENX_HUMAN tenascin XB 1758 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCCCCAAGGCGGGGTGGGGCC 0.597000 80 127 0 0 0.139131 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727171 25727171 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr6:25727171C>T ENST00000274764.2 + 1 35 c.35C>T c.(34-36)tCc>tTc p.S12F NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 12 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 GCTACCATTTCCAAGAAGGGC 0.453000 22 54 0 0 0.091800 0 0 ZNF423 23090 broad.mit.edu 37 16 49669843 49669843 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:49669843G>A ENST00000561648.1 - 4 3273 c.3220C>T c.(3220-3222)Cgc>Tgc p.R1074C ZNF423_ENST00000562871.1_Missense_Mutation_p.R1014C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R957C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1014C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R957C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1014C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1074C NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1074 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGCTTGCTGCGGAACTCCTTG 0.662000 8 17 0 0 0.047766 0 0 COL1A1 1277 broad.mit.edu 37 17 48267704 48267704 + Missense_Mutation SNP C C T rs74315133 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:48267704C>T ENST00000225964.5 - 35 2553 c.2435G>A c.(2434-2436)gGc>gAc p.G812D NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 812 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCCAGCAAAGCCAGCAGGGCC 0.612000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 23 37 0 0 0.099896 0 0 MINPP1 9562 broad.mit.edu 37 10 89264929 89264929 + Missense_Mutation SNP T T G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr10:89264929T>G ENST00000371996.4 + 1 298 c.257T>G c.(256-258)cTc>cGc p.L86R MINPP1_ENST00000371994.4_Missense_Mutation_p.L86R NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 86 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) CTGGTCGCCCTCATTCGCCAC 0.692000 OREG0020348 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 8 0 0 0.038147 0 0 CSMD2 114784 broad.mit.edu 37 1 34006741 34006741 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:34006741G>A ENST00000373381.4 - 59 9622 c.9446C>T c.(9445-9447)cCc>cTc p.P3149L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3121 Sushi 25. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTTGCAGACGGGCTTGGTTCC 0.498000 38 37 0 0 0.124865 0 0 GPR20 2843 broad.mit.edu 37 8 142367672 142367672 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr8:142367672C>T ENST00000377741.3 - 2 442 c.352G>A c.(352-354)Ggc>Agc p.G118S NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 118 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CGCAGGCAGCCCCTGGCGCCG 0.612000 22 41 0 0 0.076483 0 0 GK2 2712 broad.mit.edu 37 4 80328580 80328580 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:80328580C>T ENST00000358842.3 - 1 792 c.775G>A c.(775-777)Gac>Aac p.D259N NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 259 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GCACATTGGTCCCCCAAACAC 0.458000 37 80 0 0 0.117977 0 0 ZNF681 148213 broad.mit.edu 37 19 23937634 23937634 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:23937634C>T ENST00000402377.3 - 3 358 c.217G>A c.(217-219)Gaa>Aaa p.E73K ZNF681_ENST00000395385.3_Missense_Mutation_p.E4K NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CCTGGGGGTTCGGCCACCATC 0.418000 24 32 0 0 0.091800 0 0 STXBP3 6814 broad.mit.edu 37 1 109338903 109338903 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:109338903C>T ENST00000370008.3 + 14 1208 c.1158C>T c.(1156-1158)tcC>tcT p.S386S NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 386 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TGAAAGATTCCATGCGAGTAC 0.328000 10 33 0 0 0.069234 0 0 LIFR 3977 broad.mit.edu 37 5 38482701 38482701 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:38482701C>T ENST00000263409.4 - 19 2822 c.2660G>A c.(2659-2661)aGt>aAt p.S887N LIFR_ENST00000453190.2_Missense_Mutation_p.S887N NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 887 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CTCACAGACACTCTTTTGAAA 0.259000 T PLAG1 salivary adenoma 13 38 0 0 0.146539 0 0 MECP2 4204 broad.mit.edu 37 X 153296630 153296630 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:153296630G>A ENST00000303391.6 - 4 898 c.649C>T c.(649-651)Cct>Tct p.P217S MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.P229S NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 217 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCTTCCCAGGACTTTTCTCC 0.617000 103 174 0 0 0.139131 0 0 CHST10 9486 broad.mit.edu 37 2 101019034 101019034 + Missense_Mutation SNP C C G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:101019034C>G ENST00000264249.3 - 4 569 c.184G>C c.(184-186)Gaa>Caa p.E62Q CHST10_ENST00000542617.1_Missense_Mutation_p.E110Q|CHST10_ENST00000409701.1_Missense_Mutation_p.E62Q NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 62 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 ACCTTCAGTTCCTCAGGAATG 0.572000 35 22 0 0 0.080422 0 0 CHM 1121 broad.mit.edu 37 X 85119751 85119751 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:85119751G>A ENST00000357749.2 - 15 1875 c.1846C>T c.(1846-1848)Ctt>Ttt p.L616F CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.L468F NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 616 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TCTCCATCAAGGATAATGTCT 0.453000 7 12 0 0 0.038147 0 0 ATP7B 540 broad.mit.edu 37 13 52549113 52549113 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:52549113G>A ENST00000242839.4 - 2 399 c.243C>T c.(241-243)tcC>tcT p.S81S ATP7B_ENST00000400370.3_Silent_p.S81S|ATP7B_ENST00000418097.2_Silent_p.S81S|ATP7B_ENST00000542656.1_Silent_p.S49S|ATP7B_ENST00000448424.2_Silent_p.S81S|ATP7B_ENST00000344297.5_Silent_p.S81S|ATP7B_ENST00000400366.3_Silent_p.S81S NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 81 HMA 1. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTTTCAAATTGGAAATCCTGT 0.517000 Wilson disease 34 58 0 0 0.054565 0 0 GRIN2A 2903 broad.mit.edu 37 16 9862775 9862775 + Nonsense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:9862775C>T ENST00000396573.2 - 13 2837 c.2528G>A c.(2527-2529)tGg>tAg p.W843* GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.W843*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.W686*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.W843*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.W843*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.W843* NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 843 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCGCAGCTTCCAGTAGAAGAG 0.582000 26 50 0 0 0.099896 0 0 CTNND2 1501 broad.mit.edu 37 5 11565169 11565169 + Splice_Site SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:11565169C>T ENST00000304623.8 - 3 364 c.e3-1 CTNND2_ENST00000458100.2_Splice_Site|CTNND2_ENST00000359640.2_Splice_Site|CTNND2_ENST00000511377.1_Splice_Site|CTNND2_ENST00000503622.1_Splice_Site NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 ACTGTAATTCCTGAAAGAAAC 0.473000 10 21 0 0 0.069234 0 0 KIAA1109 84162 broad.mit.edu 37 4 123249418 123249418 + Missense_Mutation SNP G G C TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:123249418G>C ENST00000264501.4 + 66 11528 c.11155G>C c.(11155-11157)Gat>Cat p.D3719H KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3719H Q2LD37 K1109_HUMAN KIAA1109 3719 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GGGCCGACGGGATGACAGTTT 0.438000 31 51 0 0 0.059317 0 0 VPS41 27072 broad.mit.edu 37 7 38813801 38813801 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:38813801G>A ENST00000310301.4 - 12 980 c.926C>T c.(925-927)cCa>cTa p.P309L VPS41_ENST00000395969.2_Missense_Mutation_p.P284L|VPS41_ENST00000466017.1_5'UTR NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 309 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 CTCAGAAAGTGGCTGGATGAT 0.378000 79 121 0 0 0.139131 0 0 IGHA1 3493 broad.mit.edu 37 14 106173831 106173831 + RNA SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr14:106173831C>T ENST00000390547.2 - 0 735 GTCAGCGTCACCAGCTCGTTC 0.672000 4 54 0 0 0.014758 0 0 PRDM9 56979 broad.mit.edu 37 5 23526840 23526840 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:23526840G>A ENST00000296682.3 + 11 1825 c.1643G>A c.(1642-1644)gGg>gAg p.G548E NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 548 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ACACATACAGGGGAGAAGCTC 0.488000 HNSCC(3;0.000094) 35 64 0 0 0.069456 0 0 COL15A1 1306 broad.mit.edu 37 9 101817395 101817395 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:101817395G>A ENST00000375001.3 + 33 3466 c.3043G>A c.(3043-3045)Gat>Aat p.D1015N NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1015 Nonhelical region 7 (NC7). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCCTCCACTTGATCTAGCTTA 0.353000 60 38 0 0 0.139131 0 0 OR4C15 81309 broad.mit.edu 37 11 55321908 55321908 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:55321908G>A ENST00000314644.2 + 1 126 c.126G>A c.(124-126)atG>atA p.M42I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GACTATACATGATCCCTGTTG 0.373000 HNSCC(20;0.049) 45 74 0 0 0.139131 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 46 0 0 0.014758 0 0 EHMT1 79813 broad.mit.edu 37 9 140638524 140638524 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:140638524G>A ENST00000460843.1 + 6 1179 c.1152G>A c.(1150-1152)gaG>gaA p.E384E EHMT1_ENST00000334856.6_Silent_p.E353E|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.E384E NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 384 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GCATGTCGGAGGCTGATCGCG 0.572000 21 14 0 0 0.055883 0 0 OR8D4 338662 broad.mit.edu 37 11 123777609 123777609 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:123777609G>A ENST00000321355.2 + 1 501 c.471G>A c.(469-471)gtG>gtA p.V157V NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CTGATGCTGTGATCCATGGAG 0.468000 61 89 0 0 0.139131 0 0 TJP3 27134 broad.mit.edu 37 19 3736223 3736223 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:3736223G>A ENST00000541714.2 + 11 1650 c.1188G>A c.(1186-1188)ctG>ctA p.L396L TJP3_ENST00000589378.1_Silent_p.L405L|TJP3_ENST00000382008.3_Silent_p.L410L|TJP3_ENST00000587686.1_Silent_p.L415L|TJP3_ENST00000539908.2_Silent_p.L360L|TJP3_ENST00000262968.9_Silent_p.L429L NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 410 PDZ 3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTGCGGCTGGCAGGGGGCA 0.677000 29 33 0 0 0.134883 0 0 FIP1L1 81608 broad.mit.edu 37 4 54294256 54294256 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:54294256C>T ENST00000337488.6 + 13 1274 c.1080C>T c.(1078-1080)ttC>ttT p.F360F FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000507922.1_Silent_p.F345F|FIP1L1_ENST00000306932.6_Silent_p.F286F|FIP1L1_ENST00000358575.5_Silent_p.F345F NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 360 Pro-rich. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) CTCCGTTTTTCCCTCCAGGAG 0.463000 T PDGFRA idiopathic hypereosinophilic syndrome 6 17 0 0 0.021553 0 0 LRRC25 126364 broad.mit.edu 37 19 18502870 18502870 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:18502870G>A ENST00000339007.3 - 2 1498 c.845C>T c.(844-846)cCt>cTt p.P282L LRRC25_ENST00000595840.1_Missense_Mutation_p.P282L NM_145256.2 NP_660299.2 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 282 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 ACAGTAGACAGGCTGGGAAGC 0.562000 28 43 0 0 0.125774 0 0 MUC16 94025 broad.mit.edu 37 19 9070674 9070674 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:9070674C>T ENST00000397910.4 - 3 16975 c.16772G>A c.(16771-16773)gGa>gAa p.G5591E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5593 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 ATGAGTCCCTCCCTGGAAAAG 0.512000 62 78 0 0 0.139131 0 0 NRK 203447 broad.mit.edu 37 X 105189981 105189981 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:105189981G>A ENST00000428173.2 + 25 4483 c.4180G>A c.(4180-4182)Gag>Aag p.E1394K NRK_ENST00000243300.9_Missense_Mutation_p.E1393K Q7Z2Y5 NRK_HUMAN Nik related kinase 1393 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GAGACCAGATGAGCTCCTTCA 0.443000 HNSCC(51;0.14) 14 19 0 0 0.119110 0 0 ALOXE3 59344 broad.mit.edu 37 17 8012520 8012520 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:8012520C>T ENST00000380149.1 - 11 2032 c.2002G>A c.(2002-2004)Ggc>Agc p.G668S ALOXE3_ENST00000318227.3_Missense_Mutation_p.G644S|ALOXE3_ENST00000448843.2_Missense_Mutation_p.G512S Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 512 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 ATCTTCAGGCCGTCGTCTCGG 0.667000 22 31 0 0 0.069288 0 0 MROH2B 133558 broad.mit.edu 37 5 41000789 41000789 + Missense_Mutation SNP C C A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:41000789C>A ENST00000399564.4 - 38 4791 c.4341G>T c.(4339-4341)aaG>aaT p.K1447N MROH2B_ENST00000506092.2_Missense_Mutation_p.K1002N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAACTCCAATCTTGGGGTTGG 0.488000 9 13 1.12685e-05 1.14909e-05 0.047766 1 0 MUC6 4588 broad.mit.edu 37 11 1018448 1018448 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:1018448G>A ENST00000421673.2 - 31 4403 c.4353C>T c.(4351-4353)tcC>tcT p.S1451S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1451 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAAGGAGGTGGAGAAAGGTG 0.552000 12 395 0 0 0.105934 0 0 NLRP13 126204 broad.mit.edu 37 19 56424336 56424336 + Nonsense_Mutation SNP C C A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:56424336C>A ENST00000588751.1 - 5 871 c.847G>T c.(847-849)Gaa>Taa p.E283* NLRP13_ENST00000342929.3_Nonsense_Mutation_p.E283* Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 283 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GAAATCAATTCAGCAAAGGTA 0.413000 18 104 2.48551e-13 2.58559e-13 0.033300 1 0 PTPRB 5787 broad.mit.edu 37 12 70954554 70954554 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:70954554C>T ENST00000334414.6 - 17 4373 c.4329G>A c.(4327-4329)acG>acA p.T1443T PTPRB_ENST00000551525.1_Silent_p.T1442T|PTPRB_ENST00000261266.5_Silent_p.T1225T|PTPRB_ENST00000550358.1_Silent_p.T1355T|PTPRB_ENST00000538708.1_Silent_p.T1135T|PTPRB_ENST00000550857.1_Silent_p.T1135T|PTPRB_ENST00000451516.2_Silent_p.T1135T NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1225 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACCGCCACTCCGTCAGGTCCT 0.488000 11 30 0 0 0.093190 0 0 ALDH3A1 218 broad.mit.edu 37 17 19648353 19648353 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:19648353C>T ENST00000457500.2 - 1 419 c.90G>A c.(88-90)ctG>ctA p.L30L ALDH3A1_ENST00000444455.1_Silent_p.L30L|ALDH3A1_ENST00000395555.3_Silent_p.L30L|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000225740.6_Silent_p.L30L|ALDH3A1_ENST00000485231.1_Intron NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 30 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) GCAGCGCCTCCAGCTGCTGGA 0.716000 7 14 0 0 0.047766 0 0 KMT2D 8085 broad.mit.edu 37 12 49427580 49427580 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr12:49427580G>A ENST00000301067.7 - 39 10907 c.10908C>T c.(10906-10908)ctC>ctT p.L3636L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CATGGCCAGGGAGCAGCTGAC 0.662000 6 16 0 0 0.029380 0 0 NWD1 284434 broad.mit.edu 37 19 16902356 16902356 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:16902356G>A ENST00000524140.2 + 14 3554 c.3136G>A c.(3136-3138)Gaa>Aaa p.E1046K NWD1_ENST00000339803.6_Missense_Mutation_p.E911K|NWD1_ENST00000379808.3_Missense_Mutation_p.E1046K|NWD1_ENST00000549814.1_Missense_Mutation_p.E1046K|NWD1_ENST00000523826.1_Missense_Mutation_p.E840K|NWD1_ENST00000552788.1_Missense_Mutation_p.E1046K NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1046 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATCAAAGAAGAAACACCTAC 0.502000 32 44 0 0 0.054565 0 0 SYNM 23336 broad.mit.edu 37 15 99669736 99669736 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr15:99669736G>A ENST00000336292.6 + 5 1288 c.1168G>A c.(1168-1170)Gga>Aga p.G390R SYNM_ENST00000328642.7_Missense_Mutation_p.G390R|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.G105R NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 391 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 CACATCTATTGGAGGTGATGC 0.507000 84 153 0 0 0.139131 0 0 SMARCA4 6597 broad.mit.edu 37 19 11145739 11145739 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:11145739C>T ENST00000358026.2 + 29 4385 c.4101C>T c.(4099-4101)ttC>ttT p.F1367F SMARCA4_ENST00000444061.3_Silent_p.F1334F|SMARCA4_ENST00000590574.1_Silent_p.F1334F|SMARCA4_ENST00000344626.4_Silent_p.F1367F|SMARCA4_ENST00000413806.3_Silent_p.F1334F|SMARCA4_ENST00000589677.1_Silent_p.F1334F|SMARCA4_ENST00000429416.3_Silent_p.F1367F|SMARCA4_ENST00000541122.2_Silent_p.F1334F|SMARCA4_ENST00000450717.3_Silent_p.F1334F NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1367 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGAAGATGTTCGGCCGTGGCT 0.647000 """F, N, Mis""" NSCLC 6 16 0 0 0.038147 0 0 ZNF613 79898 broad.mit.edu 37 19 52447376 52447376 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:52447376C>T ENST00000293471.6 + 6 919 c.240C>T c.(238-240)atC>atT p.I80I ZNF613_ENST00000391794.4_Silent_p.I44I NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I80M(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) TCCTAGAAATCAAGAAAGTTG 0.368000 4 10 0 0 0.009096 0 0 TRMT10A 93587 broad.mit.edu 37 4 100478546 100478546 + Nonsense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:100478546G>A ENST00000273962.3 - 4 688 c.376C>T c.(376-378)Caa>Taa p.Q126* TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.Q126*|TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.Q126* NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) TAACATCGTTGAATCTGCTTA 0.353000 17 39 0 0 0.043863 0 0 PCGF2 7703 broad.mit.edu 37 17 36894641 36894641 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr17:36894641G>A ENST00000580830.1 - 10 1242 c.541C>T c.(541-543)Ctc>Ttc p.L181F PCGF2_ENST00000585100.1_Missense_Mutation_p.S182F|PCGF2_ENST00000581345.1_Missense_Mutation_p.L181F|PCGF2_ENST00000579882.1_Missense_Mutation_p.S182F|PCGF2_ENST00000360797.2_Missense_Mutation_p.L181F|PCGF2_ENST00000578109.1_Missense_Mutation_p.S128F P35227 PCGF2_HUMAN polycomb group ring finger 2 181 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TTGTTGCGGAGAAACTTGGCA 0.572000 13 31 0 0 0.132662 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715029 92715029 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:92715029G>A ENST00000257068.2 + 2 646 c.640G>A c.(640-642)Gct>Act p.A214T NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 214 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCTCCCTATCGCTGTCGTGTC 0.612000 111 133 0 0 0.139131 0 0 TTC21A 199223 broad.mit.edu 37 3 39151626 39151626 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:39151626C>T ENST00000301819.6 + 3 441 c.264C>T c.(262-264)atC>atT p.I88I TTC21A_ENST00000431162.2_Silent_p.I88I|TTC21A_ENST00000440121.1_Silent_p.I88I NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 88 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GATGTGAAATCATTGGTGAGT 0.557000 19 30 0 0 0.043863 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559405 44559405 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr18:44559405C>T ENST00000332567.4 - 1 2583 c.2231G>A c.(2230-2232)cGa>cAa p.R744Q KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 744 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTTGTAGTCTCGAATTGCCTT 0.557000 51 106 0 0 0.139131 0 0 ASTL 431705 broad.mit.edu 37 2 96789678 96789678 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:96789678C>T ENST00000342380.2 - 9 1206 c.1207G>A c.(1207-1209)Gga>Aga p.G403R NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 403 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GGCTGGATTCCTGCTTCTGAA 0.592000 28 31 0 0 0.116897 0 0 FARP1 10160 broad.mit.edu 37 13 99092480 99092480 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr13:99092480C>T ENST00000376586.2 + 24 3049 c.2713C>T c.(2713-2715)Cct>Tct p.P905S FARP1_ENST00000595437.1_Missense_Mutation_p.P905S|FARP1_ENST00000319562.6_Missense_Mutation_p.P874S Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 874 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CAGCAGCCCCCCTGACAACAG 0.612000 45 61 0 0 0.104719 0 0 WFDC6 140870 broad.mit.edu 37 20 44163078 44163078 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr20:44163078G>A ENST00000600168.1 - 4 549 c.462C>T c.(460-462)ggC>ggT p.G154G WFDC6_ENST00000372670.3_3'UTR WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) GTGGAGAGAGGCCTGGATTAT 0.478000 34 69 0 0 0.069456 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681966 69681966 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:69681966C>T ENST00000265403.7 + 1 256 c.229C>T c.(229-231)Cct>Tct p.P77S UGT2B10_ENST00000458688.2_Missense_Mutation_p.P77S NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 77 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TGAAGTTTATCCTACATCTTT 0.348000 32 59 0 0 0.144211 0 0 NFASC 23114 broad.mit.edu 37 1 204985617 204985617 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:204985617G>A ENST00000367172.4 + 32 4322 c.3994G>A c.(3994-3996)Gaa>Aaa p.E1332K NFASC_ENST00000404907.1_Missense_Mutation_p.E1159K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1253K|NFASC_ENST00000404076.1_Missense_Mutation_p.E1142K|NFASC_ENST00000539706.1_Missense_Mutation_p.E1159K|NFASC_ENST00000338515.6_Missense_Mutation_p.E1242K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1209K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1225K|NFASC_ENST00000367171.4_Missense_Mutation_p.E1317K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1225K|NFASC_ENST00000367169.4_Missense_Mutation_p.E1056K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.E1154K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1154K O94856 NFASC_HUMAN neurofascin 1332 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGAGGGCAACGAAAGCTCAGA 0.572000 18 46 0 0 0.038395 0 0 MEFV 4210 broad.mit.edu 37 16 3299632 3299632 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr16:3299632G>A ENST00000219596.1 - 3 1098 c.1059C>T c.(1057-1059)ccC>ccT p.P353P MEFV_ENST00000536379.1_Silent_p.P142P|MEFV_ENST00000541159.1_Silent_p.P142P|MEFV_ENST00000339854.4_Silent_p.P173P NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 353 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCTGGCACCGGGGGCAGCCAG 0.647000 11 29 0 0 0.069234 0 0 TBCEL 219899 broad.mit.edu 37 11 120957608 120957608 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:120957608C>T ENST00000422003.2 + 8 1266 c.1078C>T c.(1078-1080)Cgt>Tgt p.R360C TBCEL_ENST00000529397.1_Missense_Mutation_p.R360C NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 360 Ubiquitin-like. cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) AATGAGCATTCGTCTGGACCA 0.433000 9 19 0 0 0.058154 0 0 CELSR3 1951 broad.mit.edu 37 3 48677265 48677265 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:48677265G>A ENST00000544264.1 - 35 10048 c.9768C>T c.(9766-9768)gcC>gcT p.A3256A CELSR3_ENST00000164024.4_Silent_p.A3251A Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3251 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGTTGAAAGAGGCAAGGATGG 0.607000 44 97 0 0 0.098360 0 0 FOXN2 3344 broad.mit.edu 37 2 48602501 48602501 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:48602501C>T ENST00000340553.3 + 7 1476 c.1215C>T c.(1213-1215)ctC>ctT p.L405L NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 405 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GATCTCTGCTCCACCTTGCTG 0.403000 10 6 0 0 0.069234 0 0 OR4A15 81328 broad.mit.edu 37 11 55136340 55136340 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:55136340G>A ENST00000314706.3 + 1 981 c.981G>A c.(979-981)agG>agA p.R327R NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 327 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GTGCCATGAGGAAACTTTGGA 0.373000 39 56 0 0 0.080422 0 0 SLC25A31 83447 broad.mit.edu 37 4 128694625 128694625 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr4:128694625C>T ENST00000281154.4 + 6 1012 c.844C>T c.(844-846)Cgt>Tgt p.R282C NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 282 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 TTCCTTTTTTCGTGGCGCCTT 0.383000 22 23 0 0 0.069288 0 0 AOAH 313 broad.mit.edu 37 7 36698799 36698799 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:36698799G>A ENST00000431169.1 - 4 662 c.362C>T c.(361-363)cCa>cTa p.P121L AOAH_ENST00000535891.1_Missense_Mutation_p.P89L|AOAH_ENST00000258749.5_Missense_Mutation_p.P121L NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 121 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 ATGACACAATGGTTGGCCAGT 0.463000 41 72 0 0 0.124865 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622409 41622409 + Missense_Mutation SNP G G A rs145103345 byFrequency TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:41622409G>A ENST00000331105.2 + 3 293 c.221G>A c.(220-222)cGg>cAg p.R74Q NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 74 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 GGACCCAGGCGGGTGGTGGTC 0.602000 45 94 0 0 0.131918 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101709193 101709193 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:101709193G>A ENST00000506729.1 - 13 2194 c.2023C>T c.(2023-2025)Ctt>Ttt p.L675F SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L613F|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.L422F|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.L422F|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L675F Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 675 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGTTTGCAAAGAAAACCTAAA 0.308000 17 36 0 0 0.038395 0 0 TSIX 9383 broad.mit.edu 37 X 73046260 73046260 + RNA SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:73046260G>A ENST00000604411.1 + 0 34221 XIST_ENST00000429829.1_lincRNA NR_003255.2 GATGTGAATAGAAACAGAAGT 0.388000 11 23 0 0 0.080935 0 0 PLXNA4 91584 broad.mit.edu 37 7 131864512 131864512 + Missense_Mutation SNP T T G TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr7:131864512T>G ENST00000359827.3 - 20 4770 c.3808A>C c.(3808-3810)Acg>Ccg p.T1270P PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1270P Q9HCM2 PLXA4_HUMAN plexin A4 1270 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CGCTTCAGCGTGAGGTCACTT 0.602000 7 20 0 0 0.058154 0 0 NLRP4 147945 broad.mit.edu 37 19 56373464 56373464 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr19:56373464G>A ENST00000301295.6 + 5 2547 c.2125G>A c.(2125-2127)Gat>Aat p.D709N NLRP4_ENST00000587891.1_Missense_Mutation_p.D634N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D709N NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 709 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACTCTCTCGTGATGACATCAG 0.478000 85 45 0 0 0.139131 0 0 TPRG1L 127262 broad.mit.edu 37 1 3542430 3542430 + Silent SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:3542430G>A ENST00000378344.2 + 3 518 c.447G>A c.(445-447)caG>caA p.Q149Q TPRG1L_ENST00000344579.5_Intron NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 149 cell junction|synaptic vesicle endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) GAGAATTCCAGTTTCCCCCTA 0.488000 19 12 0 0 0.038395 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421644 134421644 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chrX:134421644G>A ENST00000370766.3 - 7 3667 c.958C>T c.(958-960)Cct>Tct p.P320S ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P225S NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 320 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GTATCACCAGGATTTTCCCTG 0.383000 43 85 0 0 0.117977 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26899811 26899811 + Missense_Mutation SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr1:26899811C>T ENST00000374168.2 + 21 2198 c.2044C>T c.(2044-2046)Ccc>Tcc p.P682S RPS6KA1_ENST00000530003.1_Missense_Mutation_p.P666S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.P671S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.P590S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.P590S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.P691S NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 682 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AGACAAGCTTCCCCAAAGCCA 0.602000 38 34 0 0 0.086207 0 0 APC 324 broad.mit.edu 37 5 112174732 112174732 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr5:112174732C>T ENST00000457016.1 + 16 3821 c.3441C>T c.(3439-3441)taC>taT p.Y1147Y CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.Y1147Y|APC_ENST00000257430.4_Silent_p.Y1147Y P25054 APC_HUMAN adenomatous polyposis coli 1147 Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.N1142fs*5(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GTGAACGTTACTCTGAAGAAG 0.343000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 13 26 0 0 0.105934 0 0 CALCA 796 broad.mit.edu 37 11 14992719 14992719 + Missense_Mutation SNP G G A TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr11:14992719G>A ENST00000361010.3 - 2 94 c.20C>T c.(19-21)tCc>tTc p.S7F CALCA_ENST00000331587.4_Missense_Mutation_p.S7F|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.S7F|CALCA_ENST00000396372.2_Missense_Mutation_p.S7F|CALCA_ENST00000359642.3_Missense_Mutation_p.S7F NM_001033953.2 NP_001029125.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 7 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) CAGGAAGGGGGAGAACTTTTG 0.542000 21 41 0 0 0.076483 0 0 REG1A 5967 broad.mit.edu 37 2 79350320 79350323 + Frame_Shift_Del DEL TGTC TGTC - TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr2:79350320_79350323delTGTC ENST00000233735.1 + 6 583_586 c.480_483delTGTC c.(478-483)ttfs p.FV160fs NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 160 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.V161L(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 AGTTCTCCTTTGTCTGCAAGTTCA 0.422 10 7 --- --- --- --- PTPN23 25930 broad.mit.edu 37 3 47454624 47454626 + In_Frame_Del DEL TGA TGA - TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr3:47454624_47454626delTGA ENST00000265562.4 + 25 4937_4939 c.4860_4862delTGA c.(4858-4863)tcc>tc p.SD1620del PTPN23_ENST00000431726.1_In_Frame_Del_p.SD1494del NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1620 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCGGCCCTCTGACGACCCCCTC 0.581 26 75 --- --- --- --- B4GALT1 2683 broad.mit.edu 37 9 33166963 33166983 + In_Frame_Del DEL CGGCGGCACTGTTCGAGCCGC CGGCGGCACTGTTCGAGCCGC - rs1064905 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:33166963_33166983delCGGCGGCACTGTTCGAGCCGC ENST00000379731.4 - 1 371_391 c.185_205delGCGGCTCGAACAGTGCCGCCG c.(184-207)gcc>g p.GGSNSAAA62del RP11-326F20.5_ENST00000426270.1_RNA|RP11-326F20.5_ENST00000442432.1_RNA|B4GALT1_ENST00000535206.1_In_Frame_Del_p.GGSNSAAA62del NM_001497.3 NP_001488.2 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 62 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) TGCCCGATGGCGGCGGCACTGTTCGAGCCGCCCTGCAGCGG 0.738 4 7 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd0dc4d6-b5b1-4728-aa99-84defbf887bd 4429af46-c835-46e8-b971-ebacc4796386 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 8 4 --- --- --- ---