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 ADAMTS20 80070 broad.mit.edu 37 12 43824155 43824155 + Splice_Site SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:43824155C>T ENST00000389420.3 - 23 3380 c.3381_splice c.e23+1 p.Q1127_splice ADAMTS20_ENST00000553158.1_Splice_Site_p.Q1127_splice|ADAMTS20_ENST00000395541.2_Splice_Site_p.Q281_splice NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1127 TSP type-1 6. 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) TTCTTTTTACCTGTCTGTCAC 0.348000 10 18 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244079 46244079 + Nonsense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:46244079C>T ENST00000334344.6 + 15 2345 c.2173C>T c.(2173-2175)Cag>Tag p.Q725* ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q335*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q576*|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 725 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTCCATACCCCAGACAGGAGT 0.443000 """N, S, F""" hepatocellular carcinoma 39 61 0 0 1 0 0 FKRP 79147 broad.mit.edu 37 19 47258849 47258849 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:47258849C>T ENST00000318584.5 + 4 439 c.142C>T c.(142-144)Cgt>Tgt p.R48C FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R48C NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 48 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TGCCGGCCCCCGTGTCACCGT 0.662000 5 7 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179600503 179600503 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:179600503G>A ENST00000589042.1 - 50 14894 c.14670C>T c.(14668-14670)ttC>ttT p.F4890F TTN_ENST00000591111.1_Silent_p.F4573F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.F3646F|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4573 Ig-like 29. 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) ATTCTTTAATGAAATGTGGCT 0.413000 9 22 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52538156 52538156 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr15:52538156G>A ENST00000261839.7 - 17 2224 c.2063C>T c.(2062-2064)tCc>tTc p.S688F MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 688 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AACATACCTGGAAGGGTAGCT 0.448000 24 52 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151774425 151774425 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:151774425G>A ENST00000368820.3 - 2 1693 c.756C>T c.(754-756)ctC>ctT p.L252L NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 252 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTGAGATTGAGCCCAACCA 0.637000 28 42 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657293 40657293 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:40657293C>T ENST00000406785.1 - 2 317 c.128G>A c.(127-129)gGa>gAa p.G43E SLC8A1_ENST00000405901.3_Missense_Mutation_p.G43E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G43E|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G43E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G43E P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 43 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGTTTCATTTCCTTCTCCTTC 0.413000 38 73 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20435364 20435364 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr16:20435364C>T ENST00000331849.4 + 6 1041 c.894C>T c.(892-894)ccC>ccT p.P298P NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 298 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 ATGAGCTGCCCCGAGTTGATG 0.463000 18 67 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866437 139866437 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:139866437G>A ENST00000370532.2 - 1 286 c.95C>T c.(94-96)cCt>cTt p.P32L NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 32 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TTCCAACAAAGGTACGTCTTC 0.443000 76 106 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801324 185801324 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:185801324C>T ENST00000302277.6 + 4 1795 c.1201C>T c.(1201-1203)Cct>Tct p.P401S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 401 intracellular zinc ion binding p.P401T(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GACATTGGCCCCTTCAAATAC 0.383000 28 47 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 3 14 0 0 1 0 0 PURA 5813 broad.mit.edu 37 5 139494170 139494170 + Missense_Mutation SNP C C A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr5:139494170C>A ENST00000331327.3 + 1 463 c.404C>A c.(403-405)gCg>gAg p.A135E NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 135 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCCCAGGCGCAGGACGAG 0.667000 2 3 1 1 1 1 0 SCP2 6342 broad.mit.edu 37 1 53444004 53444004 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:53444004C>T ENST00000371514.3 + 9 958 c.790C>T c.(790-792)Cca>Tca p.P264S SCP2_ENST00000371513.5_Missense_Mutation_p.P220S|SCP2_ENST00000528311.1_Missense_Mutation_p.P183S|SCP2_ENST00000371509.4_Missense_Mutation_p.P220S|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000407246.2_Missense_Mutation_p.P240S NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 264 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 GACTGATTTGCCAAGCTCGTT 0.363000 17 38 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96136820 96136820 + RNA SNP C C A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr14:96136820C>A ENST00000467865.1 + 0 1930 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) CACACTGGGCCAAGAGCAGCT 0.453000 T TRA@ T-ALL 19 16 6.44725e-10 6.68277e-10 1 1 0 KIAA2013 90231 broad.mit.edu 37 1 11983339 11983339 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:11983339G>A ENST00000376572.3 - 2 1426 c.1241C>T c.(1240-1242)cCg>cTg p.P414L KIAA2013_ENST00000376576.3_Missense_Mutation_p.P414L NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 414 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CAGCCGCCCCGGCCACAGGTT 0.642000 17 26 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 6 57 1 1 1 1 0 MYOM2 9172 broad.mit.edu 37 8 2048677 2048677 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:2048677G>A ENST00000262113.4 + 20 2593 c.2452G>A c.(2452-2454)Gac>Aac p.D818N MYOM2_ENST00000523438.1_Missense_Mutation_p.D243N NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 818 Fibronectin type-III 5. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCCTGCCTACGACTTGACGTT 0.602000 25 17 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54956439 54956439 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:54956439C>T ENST00000173898.7 + 12 3394 c.3282C>T c.(3280-3282)atC>atT p.I1094I TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.I697I|TRO_ENST00000420798.2_Silent_p.I625I|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1094 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GTGCACCAATCACCAACCCTG 0.577000 30 52 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153137720 153137720 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:153137720G>A ENST00000370060.1 - 5 476 c.287C>T c.(286-288)aCc>aTc p.T96I L1CAM_ENST00000538883.1_Missense_Mutation_p.T98I|L1CAM_ENST00000543994.1_Missense_Mutation_p.T98I|L1CAM_ENST00000361981.3_Missense_Mutation_p.T91I|L1CAM_ENST00000370057.3_Missense_Mutation_p.T96I|L1CAM_ENST00000361699.4_Missense_Mutation_p.T96I|L1CAM_ENST00000370055.1_Missense_Mutation_p.T91I NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 96 Ig-like C2-type 1. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCCGTGATGGTGAAGGAGCC 0.592000 52 86 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88703091 88703091 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr10:88703091C>T ENST00000372027.4 - 6 1523 c.1450G>A c.(1450-1452)Gac>Aac p.D484N NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 484 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 TTGATGAGGTCGGCATGGCCA 0.597000 36 14 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92406163 92406163 + Splice_Site SNP G G C TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:92406163G>C ENST00000276609.3 + 18 2070 c.e18-1 SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000520249.1_Splice_Site NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CTTTCTTGAAGCTTCCTTGAT 0.363000 67 39 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54385842 54385842 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:54385842G>A ENST00000263431.3 + 1 376 c.94G>A c.(94-96)Gaa>Aaa p.E32K PRKCG_ENST00000540413.1_Missense_Mutation_p.E32K|PRKCG_ENST00000536044.1_Missense_Mutation_p.E32K NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 32 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GGTGGTCCACGAAGTCAAGAG 0.642000 56 85 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126328204 126328204 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr4:126328204G>A ENST00000394329.3 + 3 5490 c.5477G>A c.(5476-5478)aGa>aAa p.R1826K FAT4_ENST00000335110.5_Missense_Mutation_p.R124K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1826 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCGGATATGAGAATTAATATC 0.473000 55 97 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919470 21919470 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:21919470C>T ENST00000240662.2 - 3 807 c.462G>A c.(460-462)ttG>ttA p.L154L RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 154 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) CCGTGATGGCCAAAGGGCATT 0.443000 24 36 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196560 8196560 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:8196560C>T ENST00000162391.3 + 5 1636 c.491C>T c.(490-492)tCa>tTa p.S164L FOXJ2_ENST00000428177.2_Missense_Mutation_p.S164L NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 164 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TCCCAAGACTCACCAGAACAG 0.542000 44 79 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 94 0 0 1 0 0 TMEM39A 55254 broad.mit.edu 37 3 119165985 119165985 + Missense_Mutation SNP T T C TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:119165985T>C ENST00000319172.5 - 5 875 c.455A>G c.(454-456)tAc>tGc p.Y152C TMEM39A_ENST00000486159.1_Intron NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 152 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) CAGAACCATGTAGTGAATCAT 0.408000 24 44 0 0 1 0 0 CASD1 64921 broad.mit.edu 37 7 94184838 94184838 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr7:94184838C>T ENST00000297273.4 + 18 2449 c.2162C>T c.(2161-2163)gCg>gTg p.A721V NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 721 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGGCTGGCAGCGGACACAAGG 0.378000 3 44 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67016572 67016572 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr17:67016572G>A ENST00000340001.4 - 19 2768 c.2557C>T c.(2557-2559)Cgc>Tgc p.R853C ABCA9_ENST00000453985.2_Missense_Mutation_p.R853C|ABCA9_ENST00000370732.2_Missense_Mutation_p.R853C NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 853 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTTAGGAAGCGAACTTTTGCT 0.398000 28 55 0 0 1 0 0 CD53 963 broad.mit.edu 37 1 111440472 111440472 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:111440472C>T ENST00000271324.5 + 7 658 c.546C>T c.(544-546)ttC>ttT p.F182F CD53_ENST00000429072.2_Silent_p.F123F|CD53_ENST00000497404.1_Intron NM_000560.3|NM_001040033.1 NP_000551.1|NP_001035122.1 P19397 CD53_HUMAN CD53 molecule 182 signal transduction integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) ATTCCAATTTCCTGTATATCG 0.378000 42 58 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59940626 59940626 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr5:59940626G>A ENST00000265036.5 - 5 722 c.655C>T c.(655-657)Cat>Tat p.H219Y DEPDC1B_ENST00000545085.1_Missense_Mutation_p.H192Y|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.H219Y NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 219 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) TATACATTATGGATGATGAAC 0.294000 14 10 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99262788 99262788 + Splice_Site SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr7:99262788C>T ENST00000339843.2 - 8 1291 c.e8+1 CYP3A5_ENST00000222982.4_Splice_Site|CYP3A5_ENST00000343703.5_Splice_Site cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) AGCCCACATACTTATTGAGAG 0.333000 12 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179517218 179517218 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:179517218G>A ENST00000589042.1 - 202 39318 c.39094C>T c.(39094-39096)Cct>Tct p.P13032S TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11525S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10598S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11388 Ig-like 86. 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) TTTTTAGGAGGAGCCGCTGGC 0.388000 36 73 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786271 19786271 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr9:19786271G>A ENST00000341998.2 - 1 655 c.594C>T c.(592-594)atC>atT p.I198I SLC24A2_ENST00000286344.3_Silent_p.I198I NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 198 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.I198I(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGCTGTGAGCGATAAATACCC 0.458000 26 15 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 62 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18671873 18671873 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr17:18671873G>A ENST00000308799.4 + 9 2037 c.1818G>A c.(1816-1818)gtG>gtA p.V606V FBXW10_ENST00000395665.4_Silent_p.V577V|FBXW10_ENST00000395667.1_Silent_p.V577V|FBXW10_ENST00000301938.4_Silent_p.V577V Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 577 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 AGGGAGCCGTGAAATGCCTGT 0.532000 21 45 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43376067 43376067 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:43376067G>A ENST00000244296.2 - 3 698 c.561C>T c.(559-561)ctC>ctT p.L187L PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595356.1_Silent_p.L187L|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000312439.6_Silent_p.L187L|PSG1_ENST00000436291.2_Silent_p.L187L NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GAGTCATAGGGAGGCTCTGAC 0.502000 105 221 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21487828 21487828 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr18:21487828G>A ENST00000313654.9 + 54 7185 c.6944G>A c.(6943-6945)aGa>aAa p.R2315K LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.R650K|LAMA3_ENST00000269217.6_Missense_Mutation_p.R706K|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2259K NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2315 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATGTGGAAAGAATTAAGGAC 0.488000 62 66 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11470319 11470319 + Silent SNP G G T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:11470319G>T ENST00000227756.4 - 2 811 c.400C>A c.(400-402)Cgg>Agg p.R134R NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 GGCAGGGGCCGGTCCAGGGGC 0.667000 8 38 6.40141e-05 6.5752e-05 1 1 0 FBN1 2200 broad.mit.edu 37 15 48729974 48729974 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr15:48729974C>T ENST00000316623.5 - 51 6759 c.6304G>A c.(6304-6306)Gaa>Aaa p.E2102K NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2102 TB 8. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCATCAGGTTCCGTGGGGCAG 0.517000 22 43 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36594863 36594863 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:36594863C>T ENST00000299440.5 + 2 121 c.9C>T c.(7-9)gcC>gcT p.A3A NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 3 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GCATGGCAGCCTCTTTCCCAC 0.388000 Familial Hemophagocytic Lymphohistiocytosis 46 75 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201637 71201637 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr4:71201637G>A ENST00000273936.4 + 1 940 c.881G>A c.(880-882)gGa>gAa p.G294E NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 294 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ACTACCGAGGGAGCCAGTATT 0.423000 24 57 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61950700 61950700 + Splice_Site SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr17:61950700C>T ENST00000336844.5 - 2 162 c.e2-1 CSH2_ENST00000560142.1_Splice_Site|CSH2_ENST00000345366.7_Splice_Site|CSH2_ENST00000392886.2_Splice_Site NM_022644.3 NP_072170.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 GTCCGGGAGCCTGGGGAGAAA 0.602000 8 29 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139145027 139145027 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:139145027C>T ENST00000395297.1 - 20 4200 c.4030G>A c.(4030-4032)Gaa>Aaa p.E1344K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1344 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTGATCATTTCTGCATAAACT 0.493000 HNSCC(54;0.14) 335 147 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14262131 14262131 + Missense_Mutation SNP C C A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:14262131C>A ENST00000340736.6 - 24 4276 c.3979G>T c.(3979-3981)Ggt>Tgt p.G1327C CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.G1322C NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1327 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CGGTCAGCACCCCCGGGCCCG 0.721000 4 4 0.00909568 0.00925883 1 1 0 FBN1 2200 broad.mit.edu 37 15 48729975 48729975 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr15:48729975C>T ENST00000316623.5 - 51 6758 c.6303G>A c.(6301-6303)acG>acA p.T2101T NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2101 TB 8. T -> M. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CATCAGGTTCCGTGGGGCAGA 0.522000 22 43 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175671 159175671 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:159175671G>A ENST00000537147.1 + 3 1285 c.442G>A c.(442-444)Ggg>Agg p.G148R DARC_ENST00000368121.2_Missense_Mutation_p.G150R|DARC_ENST00000368122.2_Missense_Mutation_p.G148R Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 148 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TTTGCTGCTAGGGTGCCATGC 0.642000 9 21 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56376664 56376664 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr18:56376664C>T ENST00000348428.3 + 5 962 c.704C>T c.(703-705)tCc>tTc p.S235F MALT1_ENST00000345724.3_Missense_Mutation_p.S235F|RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 235 Ig-like C2-type 2. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 GAACCAACTTCCCAAAAGCTG 0.363000 T BIRC3 MALT 32 38 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072091 9072091 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:9072091G>A ENST00000397910.4 - 3 15558 c.15355C>T c.(15355-15357)Cct>Tct p.P5119S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5121 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 TTTATAGAAGGAAAAATTTCC 0.453000 11 29 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073037 17073037 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr22:17073037G>A ENST00000359963.3 - 1 663 c.404C>T c.(403-405)gCc>gTc p.A135V NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 135 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CGTGGCGTAGGCCTCCCGGAG 0.657000 41 14 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161479832 161479832 + Missense_Mutation SNP T T A rs141094947 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:161479832T>A ENST00000271450.6 + 4 625 c.587T>A c.(586-588)tTc>tAc p.F196Y FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y|FCGR2A_ENST00000467525.1_3'UTR NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 196 Ig-like C2-type 2. integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TACACGCTGTTCTCATCCAAG 0.527000 5 89 0 0 1 0 0 FEZ2 9637 broad.mit.edu 37 2 36808483 36808483 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:36808483G>A ENST00000379245.4 - 4 632 c.584C>T c.(583-585)tCc>tTc p.S195F FEZ2_ENST00000305852.7_Missense_Mutation_p.S24F|FEZ2_ENST00000405912.3_Missense_Mutation_p.S195F NM_001042548.1 NP_001036013.1 Q9UHY8 FEZ2_HUMAN fasciculation and elongation protein zeta 2 (zygin II) 195 axon guidance|signal transduction protein binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 7 all_hematologic(82;0.21) AATTTCCTGGGAAAGCATTGA 0.418000 60 123 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915278 48915278 + Missense_Mutation SNP A A G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:48915278A>G ENST00000294954.7 - 11 1679 c.1658T>C c.(1657-1659)gTt>gCt p.V553A LHCGR_ENST00000405626.1_Missense_Mutation_p.V526A|LHCGR_ENST00000401907.1_Splice_Site_p.L316_splice|LHCGR_ENST00000344775.3_Missense_Mutation_p.V491A|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 553 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TGGGTTTCGAACTGCAAAATA 0.373000 33 61 0 0 1 0 0 GSG1 83445 broad.mit.edu 37 12 13241778 13241778 + Missense_Mutation SNP C C T rs148537880 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:13241778C>T ENST00000396302.3 - 3 589 c.391G>A c.(391-393)Gaa>Aaa p.E131K GSG1_ENST00000432710.2_Intron|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000351606.6_Missense_Mutation_p.E167K|GSG1_ENST00000337630.6_Intron|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000324458.8_Intron|GSG1_ENST00000396310.2_Intron NM_031289.3 NP_112579.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 0 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GTGGCAAATTCCAGTAGTCCT 0.537000 19 39 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76072993 76072993 + RNA SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr15:76072993G>A ENST00000395215.3 + 0 382 AAAACCAACAGTGAAATACAC 0.483000 32 50 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149758 34149758 + Missense_Mutation SNP G G T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:34149758G>T ENST00000346193.3 - 1 689 c.638C>A c.(637-639)cCg>cAg p.P213Q NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 213 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGGAGGCTCCGGGCTTAGATG 0.632000 34 76 8.16277e-20 8.53894e-20 1 1 0 NYNRIN 57523 broad.mit.edu 37 14 24884562 24884562 + Nonsense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr14:24884562C>T ENST00000382554.3 + 9 3925 c.3607C>T c.(3607-3609)Cag>Tag p.Q1203* NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1203 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCAGGGCCCCCAGTCAGGGGG 0.622000 48 31 0 0 1 0 0 DDX39A 10212 broad.mit.edu 37 19 14522376 14522376 + Missense_Mutation SNP A A T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:14522376A>T ENST00000242776.4 - 4 472 c.371T>A c.(370-372)cTg>cAg p.L124Q DDX39A_ENST00000454233.2_Missense_Mutation_p.L124Q|DDX39A_ENST00000592927.1_5'UTR NM_005804.3 NP_005795.2 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A 124 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1) 11 CTGGAAGGCCAGCTCCCTCGT 0.572000 29 50 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27133557 27133557 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:27133557G>A ENST00000343028.4 - 8 1203 c.978C>T c.(976-978)atC>atT p.I326I TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 326 Phe-rich. integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) ATCCCATGATGATAAAGCCTA 0.338000 19 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594659 179594659 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:179594659G>A ENST00000589042.1 - 63 18545 c.18321C>T c.(18319-18321)ttC>ttT p.F6107F TTN_ENST00000591111.1_Silent_p.F5790F|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.F4863F|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5790 Ig-like 42. 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) GCTTCTTAATGAATTGAGGAG 0.428000 7 7 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751472 26751472 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:26751472C>T ENST00000396641.2 + 2 901 c.309C>T c.(307-309)atC>atT p.I103I LRRC3B_ENST00000456208.2_Silent_p.I103I|LRRC3B_ENST00000417744.1_Silent_p.I103I NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 103 integral to membrane p.I103I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 TTGAGTTTATCGATGAGCATG 0.418000 22 32 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367272 248367272 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:248367272C>T ENST00000456743.1 + 1 941 c.903C>T c.(901-903)ttC>ttT p.F301F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 301 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) CCAGAGCATTCATGAAGATCT 0.428000 41 73 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153132318 153132318 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:153132318C>T ENST00000370060.1 - 19 2406 c.2217G>A c.(2215-2217)cgG>cgA p.R739R L1CAM_ENST00000538883.1_Silent_p.R741R|L1CAM_ENST00000543994.1_Silent_p.R741R|L1CAM_ENST00000361981.3_Silent_p.R734R|L1CAM_ENST00000370057.3_Silent_p.R739R|L1CAM_ENST00000361699.4_Silent_p.R739R|L1CAM_ENST00000370055.1_Silent_p.R734R NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 739 Fibronectin type-III 2. R -> W. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTCCATCCACCGGAGCGGCT 0.647000 19 22 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115585523 115585523 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:115585523C>T ENST00000371900.4 + 10 1407 c.1319C>T c.(1318-1320)cCc>cTc p.P440L NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 440 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) GATTTATTTCCCAAAGTGATG 0.388000 22 28 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323520 31323520 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr18:31323520C>T ENST00000269197.5 + 12 3708 c.3708C>T c.(3706-3708)gtC>gtT p.V1236V NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1236 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AAAATTCTGTCCCTGTATCTG 0.378000 21 54 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50494781 50494781 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr15:50494781C>T ENST00000267842.5 + 3 1018 c.786C>T c.(784-786)atC>atT p.I262I SLC27A2_ENST00000380902.4_Intron|SLC27A2_ENST00000544960.1_Silent_p.I27I NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 262 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TCATCTATATCACTCTGCCCT 0.453000 50 86 0 0 1 0 0 PSAP 5660 broad.mit.edu 37 10 73590984 73590984 + Nonsense_Mutation SNP T T A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr10:73590984T>A ENST00000394936.3 - 4 421 c.274A>T c.(274-276)Aag>Tag p.K92* PSAP_ENST00000394934.1_Nonsense_Mutation_p.K92* P07602 SAP_HUMAN prosaposin 92 Saposin B-type 1. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 TCACAGGTCTTCTCCAAGTAA 0.498000 22 9 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53761967 53761967 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:53761967C>T ENST00000341702.3 + 1 423 c.339C>T c.(337-339)ttC>ttT p.F113F NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 113 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) ATTATATGTTCCTTTACTTTA 0.433000 20 25 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16902873 16902873 + Nonsense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:16902873G>A ENST00000430580.2 - 19 2895 c.2008C>T c.(2008-2010)Cag>Tag p.Q670* NBPF1_ENST00000432949.1_Nonsense_Mutation_p.Q128*|NBPF1_ENST00000287968.8_Nonsense_Mutation_p.Q35* NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 670 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGGAGGGCCTGGAGATGCTGA 0.547000 35 846 0 0 1 0 0 CDR2 1039 broad.mit.edu 37 16 22358417 22358417 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr16:22358417G>A ENST00000268383.2 - 5 1541 c.1234C>T c.(1234-1236)Ccc>Tcc p.P412S NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 412 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) GAACTCACGGGCTCTGGGTTG 0.522000 3 46 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141955085 141955085 + Missense_Mutation SNP C C T rs147205406 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr7:141955085C>T ENST00000552471.1 - 3 545 c.226G>A c.(226-228)Gaa>Aaa p.E76K PRSS58_ENST00000547058.2_Missense_Mutation_p.E76K Q8IYP2 PRS58_HUMAN protease, serine, 58 76 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGATGCTTTTCATTAGAGTCT 0.408000 40 54 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144887330 144887330 + Missense_Mutation SNP G G T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:144887330G>T ENST00000356994.2 - 19 2628 c.2622C>A c.(2620-2622)ttC>ttA p.F874L SCRIB_ENST00000320476.3_Missense_Mutation_p.F874L|SCRIB_ENST00000377533.3_Missense_Mutation_p.F793L NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 874 Interaction with ARHGEF7.|PDZ 2. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CAGCAATGCTGAAGCCCAGCC 0.726000 13 53 4.14922e-12 4.32052e-12 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118581996 118581996 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:118581996C>T ENST00000336338.5 - 23 3303 c.3238G>A c.(3238-3240)Gaa>Aaa p.E1080K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1080 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTCACAATTTCCTTAGGGTCA 0.383000 9 27 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58980174 58980174 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:58980174C>T ENST00000361050.3 - 1 250 c.165G>A c.(163-165)cgG>cgA p.R55R NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 55 MACPF. integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) TGTCCACATTCCGCAGATTGT 0.488000 101 156 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103495543 103495543 + Missense_Mutation SNP C C T rs144948361 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:103495543C>T ENST00000372588.4 - 4 670 c.587G>A c.(586-588)cGa>cAa p.R196Q NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 196 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 CCTCTGATTTCGTTTCCACTT 0.433000 97 149 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300793 103300793 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:103300793C>T ENST00000233969.2 + 5 1565 c.1423C>T c.(1423-1425)Ctg>Ttg p.L475L NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 475 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TGTCTTCATTCTGGTAAGTAG 0.388000 57 85 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75265550 75265550 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr14:75265550C>T ENST00000325680.7 + 5 3674 c.3550C>T c.(3550-3552)Cac>Tac p.H1184Y YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.H989Y NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 989 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GTATCCATATCACCGGGATGA 0.493000 28 10 0 0 1 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46067170 46067170 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr21:46067170C>T ENST00000334670.8 + 1 840 c.795C>T c.(793-795)tcC>tcT p.S265S TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 259 keratin filament p.S265S(1) NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CCTGCCAGTCCAGCTGCTGCC 0.692000 44 87 0 0 1 0 0 BET1 10282 broad.mit.edu 37 7 93625629 93625629 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr7:93625629G>A ENST00000222547.3 - 3 307 c.149C>T c.(148-150)tCc>tTc p.S50F BET1_ENST00000433727.1_Missense_Mutation_p.S50F|BET1_ENST00000425626.1_Missense_Mutation_p.S50F|AC006378.2_ENST00000426193.2_RNA|AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000471446.1_5'UTR NM_005868.4 NP_005859.1 O15155 BET1_HUMAN Bet1 golgi vesicular membrane trafficking protein 50 t-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding large_intestine(2)|lung(1)|prostate(1)|skin(1) 5 all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218) Breast(660;0.000162)|Ovarian(593;0.000626) STAD - Stomach adenocarcinoma(171;0.000967) TATTTCAATGGAAAGCTATAA 0.279000 28 86 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49696524 49696524 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr6:49696524C>T ENST00000433368.2 - 8 795 c.726G>A c.(724-726)ttG>ttA p.L242L CRISP3_ENST00000423399.2_Silent_p.L129L|CRISP3_ENST00000393666.1_Silent_p.L219L|CRISP3_ENST00000263045.4_Silent_p.L232L|CRISP3_ENST00000371159.4_Silent_p.L250L NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 219 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) ATGTGAGCTTCAAACTTTTAC 0.363000 24 56 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147333 129147333 + Missense_Mutation SNP C C G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:129147333C>G ENST00000540052.1 + 3 629 c.585C>G c.(583-585)aaC>aaG p.N195K BCORL1_ENST00000359304.2_Missense_Mutation_p.N195K|BCORL1_ENST00000218147.7_Missense_Mutation_p.N195K|BCORL1_ENST00000303743.5_Missense_Mutation_p.N195K NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 195 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TTACCACTAACTTCAGTCCTC 0.582000 98 160 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63072257 63072257 + Nonsense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:63072257G>A ENST00000332793.6 + 9 1496 c.1494G>A c.(1492-1494)tgG>tgA p.W498* SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 498 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTTTGCCATGGATCATTTATG 0.458000 29 64 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15793996 15793996 + Missense_Mutation SNP T T G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:15793996T>G ENST00000359621.4 + 7 780 c.755T>G c.(754-756)tTc>tGc p.F252C CELA2B_ENST00000494280.1_3'UTR NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 252 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 CCCTCCGTCTTCACGCGGGTC 0.622000 47 63 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232561550 232561550 + Missense_Mutation SNP G G A rs150962063 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:232561550G>A ENST00000366630.1 - 17 4773 c.4415C>T c.(4414-4416)tCg>tTg p.S1472L SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S546L|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1472L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1472 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.S1472L(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCCATAGAACGAAAACTAGGG 0.507000 13 35 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26849057 26849057 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr10:26849057C>T ENST00000376236.4 + 12 1634 c.1179C>T c.(1177-1179)tcC>tcT p.S393S NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 393 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AGAAGGAGTCCCAGTATATCA 0.453000 45 81 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433488 55433488 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:55433488C>T ENST00000314259.3 + 1 875 c.846C>T c.(844-846)ccC>ccT p.P282P NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGTTAAATCCCTTGATCTATA 0.458000 31 49 0 0 1 0 0 SS18 6760 broad.mit.edu 37 18 23615801 23615801 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr18:23615801C>T ENST00000415083.2 - 8 1022 c.967G>A c.(967-969)Gaa>Aaa p.E323K SS18_ENST00000542420.2_Missense_Mutation_p.E300K|SS18_ENST00000542743.1_Intron|SS18_ENST00000545952.1_Intron|SS18_ENST00000539849.1_Missense_Mutation_p.E241K|SS18_ENST00000269137.7_Intron NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 323 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) ATACCTCCTTCGTAGTAATGT 0.398000 T """SSX1, SSX2""" synovial sarcoma 4 10 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128498177 128498177 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr7:128498177C>T ENST00000325888.8 + 47 8157 c.7896C>T c.(7894-7896)tcC>tcT p.S2632S FLNC_ENST00000346177.6_Silent_p.S2599S|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2632 Interaction with INPPL1.|Self-association site, tail (By similarity). cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCAAGTTCTCCTCAGATGCCA 0.612000 19 26 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 665929 665929 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:665929C>T ENST00000266383.5 + 15 2290 c.2277C>T c.(2275-2277)aaC>aaT p.N759N NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 759 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) ACCCACACAACCGTAGGAGAC 0.642000 17 29 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103067483 103067483 + Splice_Site SNP T T C TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:103067483T>C ENST00000264260.2 + 11 1973 c.e11+2 IL18RAP_ENST00000409369.1_Splice_Site NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CAGGAGGAGGTAAGTCCAACA 0.408000 16 30 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904316 55904316 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:55904316C>T ENST00000301529.1 - 1 878 c.879G>A c.(877-879)agG>agA p.R293R NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) CATCATTATTCCTCAGGCTGT 0.358000 23 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179403940 179403940 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:179403940C>T ENST00000589042.1 - 353 98946 c.98722G>A c.(98722-98724)Gat>Aat p.D32908N TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31267N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24035N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30340N|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23843N|TTN_ENST00000359218.5_Missense_Mutation_p.D23968N|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31267 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D23968N(1)|p.D30338N(1)|p.D23843N(1)|p.D24035N(1) 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) TTGGTTACATCGAGTACTTCT 0.443000 20 23 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 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 25 53 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 3 128 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72107867 72107867 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr16:72107867G>A ENST00000540303.2 + 2 114 c.82G>A c.(82-84)Gat>Aat p.D28N HPR_ENST00000228226.8_Missense_Mutation_p.D65N|HPR_ENST00000561690.1_Missense_Mutation_p.D28N|HPR_ENST00000356967.5_Missense_Mutation_p.D28N NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 28 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) TGATGTCACGGATATTTCAGG 0.507000 40 70 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21106623 21106623 + Splice_Site SNP T T A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr10:21106623T>A ENST00000377122.4 - 21 2452 c.e21-2 NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATATTTTACCTAAGAAGGATA 0.383000 24 35 0 0 1 0 0 CCDC103 388389 broad.mit.edu 37 17 42980074 42980074 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr17:42980074C>T ENST00000417826.2 + 4 713 c.618C>T c.(616-618)tcC>tcT p.S206S FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Silent_p.S206S NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 206 endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) ACCCCAGATCCGTGAAGGAGG 0.632000 13 22 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73680996 73680996 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:73680996C>T ENST00000264448.6 + 8 7450 c.7339C>T c.(7339-7341)Cca>Tca p.P2447S ALMS1_ENST00000409009.1_Missense_Mutation_p.P2405S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P2447S NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2447 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAACTTCTTTCCATATGTTTC 0.448000 18 32 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41712370 41712370 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:41712370C>T ENST00000310054.4 + 9 1708 c.1492C>T c.(1492-1494)Cac>Tac p.H498Y CYP2S1_ENST00000542619.1_Missense_Mutation_p.H223Y NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 498 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CACTGACCTTCACTCCACCAC 0.612000 61 92 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96580369 96580369 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr10:96580369C>T ENST00000371321.3 + 6 1018 c.936C>T c.(934-936)ctC>ctT p.L312L CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 312 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CTCTCCTTCTCCTGCTGAAGC 0.453000 48 24 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552515 1552515 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr20:1552515C>T ENST00000381605.4 - 3 666 c.602G>A c.(601-603)gGa>gAa p.G201E SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 201 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CACACTGTCTCCTGCGGGGTC 0.557000 69 101 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70512851 70512851 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr14:70512851G>A ENST00000381269.2 - 8 3350 c.2597C>T c.(2596-2598)aCc>aTc p.T866I SLC8A3_ENST00000394330.2_Missense_Mutation_p.T223I|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000356921.2_Missense_Mutation_p.T860I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.T863I|SLC8A3_ENST00000357887.3_Missense_Mutation_p.T864I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.T864I|SLC8A3_ENST00000216568.7_Missense_Mutation_p.T237I NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 866 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GGTGAAGAGGGTGACGGAGAA 0.647000 OREG0022773 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 11 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436410 56436410 + Missense_Mutation SNP G G T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:56436410G>T ENST00000327381.5 + 3 1677 c.1577G>T c.(1576-1578)tGt>tTt p.C526F NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 526 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TCACCAAGTTGTGCTTGTGAG 0.532000 34 152 3.09479e-21 3.25239e-21 1 1 0 KDR 3791 broad.mit.edu 37 4 55972864 55972864 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr4:55972864C>T ENST00000263923.4 - 11 1821 c.1526G>A c.(1525-1527)gGa>gAa p.G509E NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 509 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTTGTTTTTTCCTTCAATTAG 0.323000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 10 22 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57003456 57003456 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:57003456C>T ENST00000606794.1 - 1 1219 c.1023G>A c.(1021-1023)gaG>gaA p.E341E NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 341 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGGCTGACTTCTCCCCACTGC 0.637000 29 43 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11600050 11600050 + Missense_Mutation SNP A A G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:11600050A>G ENST00000273038.3 - 6 1218 c.853T>C c.(853-855)Tcc>Ccc p.S285P VGLL4_ENST00000404339.1_Missense_Mutation_p.S290P|VGLL4_ENST00000451674.2_Missense_Mutation_p.S205P|VGLL4_ENST00000424529.2_Missense_Mutation_p.S201P|VGLL4_ENST00000413604.1_Missense_Mutation_p.S226P|VGLL4_ENST00000430365.2_Missense_Mutation_p.S291P NM_014667.2 NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ACAGAGGGGGAGTGACTGTGG 0.577000 3 99 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73063804 73063804 + RNA SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:73063804G>A ENST00000429829.1 - 0 8784 NR_001564.2 GCCTTGGAGGGAAACAGTATA 0.383000 11 16 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283903 152283903 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:152283903G>A ENST00000368799.1 - 3 3494 c.3459C>T c.(3457-3459)tcC>tcT p.S1153S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1153 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTGCCTGGAGCTGTCTC 0.597000 Ichthyosis 234 421 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569004 61569004 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr18:61569004C>T ENST00000457692.1 + 7 899 c.566C>T c.(565-567)tCt>tTt p.S189F SERPINB2_ENST00000299502.4_Missense_Mutation_p.S189F|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 189 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CCTGAAGGTTCTGTAGATGGG 0.368000 23 53 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28625822 28625822 + Silent SNP A A G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:28625822A>G ENST00000416984.2 - 16 2114 c.1755T>C c.(1753-1755)atT>atC p.I585I INTS9_ENST00000521777.1_Silent_p.I582I|INTS9_ENST00000521022.1_Silent_p.I606I|INTS9_ENST00000397363.4_Silent_p.I500I NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 606 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CCTCCACCTTAATATCACTGA 0.507000 98 45 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123282714 123282714 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:123282714C>T ENST00000253079.6 + 8 1288 c.944C>T c.(943-945)tCa>tTa p.S315L CCDC62_ENST00000537566.1_Missense_Mutation_p.S76L|CCDC62_ENST00000392441.4_Missense_Mutation_p.S315L|CCDC62_ENST00000392440.2_Missense_Mutation_p.S76L NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 315 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) ATGTATGACTCAAAGATGGAG 0.343000 10 10 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206647678 206647678 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:206647678C>T ENST00000367120.3 + 4 465 c.92C>T c.(91-93)tCc>tTc p.S31F IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000462698.1_Intron NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 31 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) TGGCAGAAATCCGGAGAGCTG 0.602000 40 69 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48848975 48848975 + Missense_Mutation SNP G G T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:48848975G>T ENST00000314191.2 - 12 1272 c.1216C>A c.(1216-1218)Cgt>Agt p.R406S PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R406S NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 406 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGATAAACACGGTCGTCACCA 0.443000 Non-homologous end-joining 4 161 0.150653 0.152671 1 1 0 ZNF174 7727 broad.mit.edu 37 16 3458476 3458476 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr16:3458476C>T ENST00000268655.4 + 3 1366 c.781C>T c.(781-783)Cgg>Tgg p.R261W ZNF174_ENST00000571936.1_Missense_Mutation_p.R261W|LA16c-306E5.2_ENST00000575785.1_RNA NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 261 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 TCGGTTGTCACGGAGGCAGGT 0.522000 36 65 0 0 1 0 0 CAPNS1 826 broad.mit.edu 37 19 36631958 36631958 + Silent SNP C C G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:36631958C>G ENST00000246533.3 + 2 643 c.45C>G c.(43-45)ggC>ggG p.G15G CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 15 Gly-rich (hydrophobic).|Poly-Gly. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) gcggcggcggcgggggaggcg 0.736000 3 33 0 0 1 0 0 S100A7L2 645922 broad.mit.edu 37 1 153410684 153410684 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:153410684G>A ENST00000368725.2 - 2 154 c.155C>T c.(154-156)cCc>cTc p.P52L NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GAGGAAGTTGGGGAAGTTCTC 0.512000 23 59 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90313685 90313685 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr9:90313685C>T ENST00000469640.2 + 23 3101 c.2726C>T c.(2725-2727)tCg>tTg p.S909L DAPK1_ENST00000491893.1_Missense_Mutation_p.S843L|DAPK1_ENST00000408954.3_Missense_Mutation_p.S909L|DAPK1_ENST00000358077.5_Missense_Mutation_p.S909L|DAPK1_ENST00000472284.1_Missense_Mutation_p.S909L P53355 DAPK1_HUMAN death-associated protein kinase 1 909 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 AAAGACACATCGTTGCTGAAA 0.532000 Chronic Lymphocytic Leukemia, Familial Clustering of 20 12 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814320 106814320 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:106814320G>A ENST00000407775.2 + 8 2260 c.2010G>A c.(2008-2010)gtG>gtA p.V670V RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.V538V|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.V401V|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V538V|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 670 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) CTGTTGATGTGAAAAATCCCA 0.443000 40 21 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25230233 25230233 + RNA SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr15:25230233G>A ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 AAGACATTGGGAAAGACCTGG 0.413000 29 46 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75722644 75722644 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr15:75722644C>T ENST00000394947.3 - 2 387 c.73G>A c.(73-75)Gag>Aag p.E25K SIN3A_ENST00000567289.1_Missense_Mutation_p.E25K|SIN3A_ENST00000394949.4_Missense_Mutation_p.E25K|SIN3A_ENST00000360439.4_Missense_Mutation_p.E25K NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 25 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 GGAAAAGCCTCTGTGCTGCCA 0.577000 23 47 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109818714 109818714 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr6:109818714G>A ENST00000424296.2 - 38 5345 c.5269C>T c.(5269-5271)Cgt>Tgt p.R1757C RP5-919F19.5_ENST00000423747.1_RNA NM_001145128.2 NP_001138600.2 adenylate kinase 9 p.R156C(1)|p.R1757C(1) ATATATATACGATTATGATAT 0.299000 13 12 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61707586 61707586 + Missense_Mutation SNP A A G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:61707586A>G ENST00000423902.2 + 4 2617 c.2138A>G c.(2137-2139)aAg>aGg p.K713R CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.K713R NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 713 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.K713T(2)|p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTGAAGAAAAAGGTCAACAAG 0.408000 3 111 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43708014 43708014 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr21:43708014C>T ENST00000398437.1 + 10 1575 c.1427C>T c.(1426-1428)tCc>tTc p.S476F ABCG1_ENST00000361802.2_Missense_Mutation_p.S330F|ABCG1_ENST00000343687.3_Missense_Mutation_p.S341F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.S327F|ABCG1_ENST00000398457.2_Missense_Mutation_p.S332F|ABCG1_ENST00000340588.4_Missense_Mutation_p.S438F|ABCG1_ENST00000398449.3_Missense_Mutation_p.S330F P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 330 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GAGGTTGCATCCGGCGAGTAC 0.602000 14 427 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140183103 140183103 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr5:140183103C>T ENST00000522353.2 + 1 2321 c.2321C>T c.(2320-2322)cCt>cTt p.P774L PCDHA3_ENST00000532566.2_Missense_Mutation_p.P774L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTTTAGCCCTAGCCTTCCT 0.527000 56 44 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321459 56321459 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:56321459C>T ENST00000443188.1 - 5 1227 c.517G>A c.(517-519)Ggt>Agt p.G173S NLRP11_ENST00000360133.3_Missense_Mutation_p.G173S|NLRP11_ENST00000589824.2_Missense_Mutation_p.G173S|NLRP11_ENST00000589093.1_Missense_Mutation_p.G173S|NLRP11_ENST00000592953.1_Missense_Mutation_p.G74S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 173 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CACATCTCACCCTTGATCCAC 0.453000 15 22 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228367 21228367 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:21228367G>A ENST00000233242.1 - 26 11500 c.11373C>T c.(11371-11373)ttC>ttT p.F3791F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3791 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 p.F3791F(1) 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) CAACTTCAGGGAATTTTACCT 0.403000 69 112 0 0 1 0 0 GINS3 64785 broad.mit.edu 37 16 58437029 58437029 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr16:58437029C>T ENST00000318129.5 + 2 422 c.214C>T c.(214-216)Ctg>Ttg p.L72L GINS3_ENST00000426538.2_Silent_p.L111L|GINS3_ENST00000328514.7_Intron NM_022770.3 NP_073607.2 Q9BRX5 PSF3_HUMAN GINS complex subunit 3 (Psf3 homolog) 72 DNA replication nucleus NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 7 ACCCTTGTGGCTGGCAAAAGG 0.448000 33 49 0 0 1 0 0 UBXN2A 165324 broad.mit.edu 37 2 24194250 24194250 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:24194250C>T ENST00000309033.4 + 3 390 c.146C>T c.(145-147)tCc>tTc p.S49F UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.S49F|UBXN2A_ENST00000404924.1_Missense_Mutation_p.S49F NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 49 endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 AAGGTTAGTTCCAAATGTGTG 0.348000 44 73 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713845 142713845 + RNA SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:142713845C>T ENST00000369381.2 - 0 760 CAATTTTCATCCATCAGATCT 0.284000 9 28 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130659495 130659495 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:130659495C>T ENST00000510168.1 + 7 932 c.382C>T c.(382-384)Ctt>Ttt p.L128F ATP2C1_ENST00000504381.1_Missense_Mutation_p.L73F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L128F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L112F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L112F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L112F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L112F|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L128F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L128F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L162F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L128F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L123F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L128F P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 128 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) AGAAAAATCTCTTGAAGAATT 0.303000 Hailey-Hailey disease 9 23 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987842 22987842 + Missense_Mutation SNP T T C TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:22987842T>C ENST00000509305.1 + 3 1065 c.719T>C c.(718-720)tTt>tCt p.F240S C1QB_ENST00000314933.6_Missense_Mutation_p.F242S P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 242 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AACAGCATCTTTTCCGGGTTC 0.607000 75 88 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17109501 17109501 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:17109501G>A ENST00000418129.2 + 5 3235 c.2770G>A c.(2770-2772)Gaa>Aaa p.E924K PLCL2_ENST00000396755.2_Missense_Mutation_p.E924K|PLCL2_ENST00000432376.1_Missense_Mutation_p.E924K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1050 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AGGTTTGAAGGAAAGAAAACT 0.383000 27 62 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 860873 860873 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr4:860873G>A ENST00000314167.4 - 21 2853 c.2743C>T c.(2743-2745)Ctt>Ttt p.L915F GAK_ENST00000511163.1_Missense_Mutation_p.L836F|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 915 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) GGGGGCCCAAGGAGGCAGCTG 0.736000 14 21 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113168926 113168926 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr9:113168926G>A ENST00000401783.2 - 38 9290 c.8954C>T c.(8953-8955)tCa>tTa p.S2985L SVEP1_ENST00000297826.5_Missense_Mutation_p.S911L|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2962L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2985 Sushi 26. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCTTCTTGATGAATTTCCATG 0.463000 23 8 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163076404 163076404 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:163076404G>A ENST00000188790.4 - 7 652 c.445C>T c.(445-447)Cca>Tca p.P149S FAP_ENST00000443424.1_Missense_Mutation_p.P124S NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 149 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TACTGAATTGGACGAGGAAGC 0.313000 25 27 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26771641 26771641 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr22:26771641C>T ENST00000529632.2 + 14 3091 c.2895C>T c.(2893-2895)taC>taT p.Y965Y SEZ6L_ENST00000402979.1_Silent_p.Y748Y|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000404234.3_Silent_p.Y975Y|SEZ6L_ENST00000360929.3_Silent_p.Y901Y|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000343706.4_Silent_p.Y900Y|SEZ6L_ENST00000248933.6_Silent_p.Y976Y|SEZ6L_ENST00000403121.1_Silent_p.Y672Y NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 976 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GAGGAGCCTACATTTACATCA 0.582000 16 5 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134911606 134911606 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:134911606C>T ENST00000398015.3 + 11 2441 c.2071C>T c.(2071-2073)Cgg>Tgg p.R691W EPHB1_ENST00000493838.1_Missense_Mutation_p.R252W NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 691 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CACCAAGAGTCGGCCTGTCAT 0.527000 38 44 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206614461 206614461 + Missense_Mutation SNP C C T rs140796876 byFrequency TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:206614461C>T ENST00000360409.3 + 11 2590 c.1799C>T c.(1798-1800)aCg>aTg p.T600M NRP2_ENST00000412873.2_Missense_Mutation_p.T600M|NRP2_ENST00000540178.1_Missense_Mutation_p.T600M|NRP2_ENST00000357785.5_Missense_Mutation_p.T600M|NRP2_ENST00000272849.3_Missense_Mutation_p.T600M|NRP2_ENST00000540841.1_Missense_Mutation_p.T600M|NRP2_ENST00000357118.4_Missense_Mutation_p.T600M NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 600 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TCCAAGCCCACGGTAGAGACG 0.547000 3 72 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123554186 123554186 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:123554186C>T ENST00000422452.2 - 25 5020 c.4957G>A c.(4957-4959)Gaa>Aaa p.E1653K TENM1_ENST00000371130.3_Missense_Mutation_p.E1646K|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CATCCATTTTCGTTACTTTTG 0.398000 49 91 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 3 62 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023861 76023861 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr6:76023861C>T ENST00000393004.2 - 5 1908 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K FILIP1_ENST00000370020.1_Missense_Mutation_p.E464K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E563K Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 563 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TATACTTTTTCCTCCATTTCA 0.299000 8 8 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6929856 6929856 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr17:6929856G>A ENST00000293805.5 + 6 1062 c.970G>A c.(970-972)Gaa>Aaa p.E324K NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 324 nucleus zinc ion binding skin(1) 1 TCCTGGGGACGAAGACAAACC 0.562000 73 102 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029272 32029272 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr6:32029272G>A ENST00000375244.3 - 21 7595 c.7394C>T c.(7393-7395)aCc>aTc p.T2465I TNXB_ENST00000375247.2_Missense_Mutation_p.T2465I P22105 TENX_HUMAN tenascin XB 2525 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 GCCCCCCACGGTGACCTCGCT 0.697000 56 72 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409572 56409572 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:56409572C>T ENST00000544374.1 - 1 375 c.347G>A c.(346-348)gGg>gAg p.G116E OR5AP2_ENST00000302981.1_Missense_Mutation_p.G115E Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 GCACTCAGTCCCCAGGAAGGA 0.512000 8 45 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 61 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41807533 41807533 + Missense_Mutation SNP C C G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:41807533C>G ENST00000392006.3 + 11 1784 c.1611C>G c.(1609-1611)gaC>gaG p.D537E HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.D423E|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.D448E|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.D437E|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.D437E|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.D437E|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.D537E NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 537 Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CTGACGAGGACCTAAAAGACC 0.463000 34 60 0 0 1 0 0 TRGC1 6966 broad.mit.edu 37 7 38301806 38301806 + RNA SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr7:38301806C>T ENST00000443402.2 - 0 343 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 CTTTGGGATCCATTGTGATGA 0.358000 70 98 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220476375 220476375 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:220476375C>T ENST00000456909.1 + 18 2244 c.2154C>T c.(2152-2154)ctC>ctT p.L718L STK11IP_ENST00000295641.10_Silent_p.L729L Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 729 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTTCTCCTCGCTGTGTCTC 0.622000 71 133 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436411 56436411 + Missense_Mutation SNP T T G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:56436411T>G ENST00000327381.5 + 3 1678 c.1578T>G c.(1576-1578)tgT>tgG p.C526W NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 526 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CACCAAGTTGTGCTTGTGAGG 0.537000 34 152 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113286216 113286216 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:113286216C>T ENST00000362072.3 - 5 994 c.650G>A c.(649-651)cGc>cAc p.R217H DRD2_ENST00000538967.1_Missense_Mutation_p.R217H|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.R217H|DRD2_ENST00000346454.3_Missense_Mutation_p.R217H|DRD2_ENST00000544518.1_Missense_Mutation_p.R216H|DRD2_ENST00000542968.1_Missense_Mutation_p.R217H NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 217 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GCGGCGTCTGCGGAGGACAAT 0.572000 52 101 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90402494 90402494 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr6:90402494G>A ENST00000369393.3 - 63 10370 c.10255C>T c.(10255-10257)Cac>Tac p.H3419Y MDN1_ENST00000428876.1_Missense_Mutation_p.H3419Y Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3419 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGTGAGGTGTGGAGCTCAGAG 0.587000 33 25 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60897344 60897344 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr20:60897344G>A ENST00000252999.3 - 47 6393 c.6327C>T c.(6325-6327)ctC>ctT p.L2109L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2109 Laminin EGF-like 21. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGCTCAGGGAGCCCCCAGT 0.697000 6 12 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8995765 8995765 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:8995765G>A ENST00000299698.7 + 12 1464 c.1284G>A c.(1282-1284)ccG>ccA p.P428P NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 272 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TATATAATCCGGAACAAGTGC 0.488000 44 83 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20870068 20870068 + Missense_Mutation SNP T T G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:20870068T>G ENST00000381552.1 + 7 1047 c.679T>G c.(679-681)Tgt>Ggt p.C227G SLCO1C1_ENST00000540354.1_Missense_Mutation_p.C178G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.C109G|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.C227G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.C227G Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 227 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TGGTGCAGGGTGTGTGCAGAC 0.343000 12 32 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5013332 5013332 + Missense_Mutation SNP T T G TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:5013332T>G ENST00000380390.1 + 6 950 c.734T>G c.(733-735)aTc>aGc p.I245S MMP26_ENST00000300762.1_Missense_Mutation_p.I245S Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 245 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) GCCGATGATATCCAAAGGATC 0.453000 13 38 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196387641 196387641 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:196387641G>A ENST00000328557.4 + 3 1330 c.1127G>A c.(1126-1128)gGa>gAa p.G376E NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species GAGCCCCCCGGAGCGCTCACC 0.642000 37 88 0 0 1 0 0 ABCA17P 650655 broad.mit.edu 37 16 2474681 2474681 + RNA SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr16:2474681G>A ENST00000469908.1 + 0 2850 NR_003574.1 GTTCAGCAGTGGCTACTCCCT 0.642000 12 14 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 15989294 15989294 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr4:15989294C>T ENST00000505450.1 - 19 2707 c.2095G>A c.(2095-2097)Gga>Aga p.G699R PROM1_ENST00000539194.1_Missense_Mutation_p.G708R|PROM1_ENST00000447510.2_Missense_Mutation_p.G708R|PROM1_ENST00000510224.1_Missense_Mutation_p.G708R|PROM1_ENST00000543373.1_Missense_Mutation_p.G699R|PROM1_ENST00000540805.1_Missense_Mutation_p.G708R|PROM1_ENST00000508167.1_Missense_Mutation_p.G699R NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 708 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 ACCAACAATCCATTCCCTGTG 0.358000 57 86 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518287 84518287 + RNA SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:84518287G>A ENST00000331369.5 + 0 481 AGAGCACTCAGATACCTAACC 0.468000 28 64 0 0 1 0 0 CKMT2 1160 broad.mit.edu 37 5 80547077 80547077 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr5:80547077G>A ENST00000424301.2 + 3 364 c.126G>A c.(124-126)cgG>cgA p.R42R CKMT2_ENST00000437669.1_Silent_p.R42R|CKMT2_ENST00000254035.4_Silent_p.R42R|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CKMT2_ENST00000505704.1_3'UTR|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 42 Cardiolipin-binding (By similarity). creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) CCGAGGTCCGGGAGCAGCCTA 0.552000 113 57 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863874 55863874 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:55863874C>T ENST00000327335.4 - 1 48 c.49G>A c.(49-51)Gat>Aat p.D17N RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 TGAGAATTATCCGTCAGTCCC 0.353000 21 28 0 0 1 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20224844 20224844 + RNA SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr17:20224844C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA TTAGACCAGCCCCAGCACGAT 0.652000 6 285 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6971869 6971869 + Missense_Mutation SNP C C A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr18:6971869C>A ENST00000389658.3 - 48 6979 c.6886G>T c.(6886-6888)Ggg>Tgg p.G2296W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2296 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGAAGCACCCACGGCACTTG 0.433000 37 36 6.4771e-29 6.87057e-29 1 1 0 IGF2BP3 10643 broad.mit.edu 37 7 23352000 23352000 + Missense_Mutation SNP G G T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr7:23352000G>T ENST00000258729.3 - 15 2077 c.1721C>A c.(1720-1722)cCt>cAt p.P574H NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 574 anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 TCTTGACTGAGGTGGTCCACT 0.498000 42 86 1.51926e-22 1.60405e-22 1 1 0 RP11-166D19.1 0 broad.mit.edu 37 11 121970470 121970470 + RNA SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:121970470G>A ENST00000531381.1 - 0 732 MIR125B1_ENST00000385236.1_RNA GCAAAAGCACGACTCGCAGCT 0.413000 6 17 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73453542 73453542 + Missense_Mutation SNP T T C TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr3:73453542T>C ENST00000263666.4 - 4 1037 c.923A>G c.(922-924)aAc>aGc p.N308S PDZRN3_ENST00000535920.1_Missense_Mutation_p.N30S|PDZRN3_ENST00000466780.1_5'UTR|PDZRN3_ENST00000462146.2_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.N25S NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 308 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GTCTCTGCCGTTGACCTGTGG 0.458000 24 44 0 0 1 0 0 MTERFD3 80298 broad.mit.edu 37 12 107371895 107371895 + Missense_Mutation SNP C C A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr12:107371895C>A ENST00000552029.1 - 2 2666 c.598G>T c.(598-600)Ggc>Tgc p.G200C C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.G200C|MTERFD3_ENST00000392830.2_Missense_Mutation_p.G200C Q49AM1 MTER3_HUMAN MTERF domain containing 3 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding breast(1)|kidney(1)|large_intestine(2)|lung(3) 7 GCCTCAGAGCCACCTACATCT 0.358000 3 44 1 1 1 1 0 USHBP1 83878 broad.mit.edu 37 19 17370518 17370518 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:17370518G>A ENST00000252597.3 - 6 965 c.792C>T c.(790-792)ccC>ccT p.P264P USHBP1_ENST00000431146.2_Silent_p.P200P NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 264 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GCCGAAGCAGGGGGTGAGCCA 0.562000 57 40 0 0 1 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265815 22265815 + RNA SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr14:22265815C>T ENST00000390430.2 + 0 230 GTAATTCTCTCTGAAGCAGCC 0.458000 75 45 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226075168 226075168 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:226075168G>A ENST00000272134.5 - 3 747 c.668C>T c.(667-669)tCg>tTg p.S223L RP4-559A3.7_ENST00000432920.2_Silent_p.L331L NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 223 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) CGCCCCCTGCGAGGCAAAGCG 0.701000 22 39 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103310477 103310477 + Nonsense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr10:103310477C>T ENST00000370187.3 + 14 1796 c.1678C>T c.(1678-1680)Cga>Tga p.R560* BTRC_ENST00000408038.2_Nonsense_Mutation_p.R524*|BTRC_ENST00000393441.4_Nonsense_Mutation_p.R519*|BTRC_ENST00000493877.1_3'UTR NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 560 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 p.R560*(1) 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) AAGAGTTTTTCGACTACAGTT 0.408000 33 25 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154027298 154027298 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:154027298G>A ENST00000368559.3 - 24 3322 c.3251C>T c.(3250-3252)cCa>cTa p.P1084L NUP210L_ENST00000271854.3_Missense_Mutation_p.P1084L|NUP210L_ENST00000368553.1_Missense_Mutation_p.P17L NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1084 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AAGTCTGAATGGAGGAAACAC 0.323000 19 28 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28539833 28539833 + Missense_Mutation SNP T T C TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr6:28539833T>C ENST00000452236.2 - 4 4450 c.3833A>G c.(3832-3834)gAg>gGg p.E1278G NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1278 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gaatccggtctcacagaggta 0.358000 25 41 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 983033 983033 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:983033C>T ENST00000379370.2 + 21 3647 c.3597C>T c.(3595-3597)tcC>tcT p.S1199S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1199 SEA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCGGCAAATCCGTCCGCGCCA 0.617000 52 70 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117527200 117527200 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:117527200G>A ENST00000254029.3 + 4 1187 c.792G>A c.(790-792)ttG>ttA p.L264L WDR44_ENST00000371825.3_Silent_p.L264L|WDR44_ENST00000371822.5_Silent_p.L239L NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 264 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AAAGCGAATTGGAATTTGAGA 0.493000 75 142 0 0 1 0 0 DSN1 79980 broad.mit.edu 37 20 35399564 35399564 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr20:35399564G>A ENST00000426836.1 - 3 439 c.67C>T c.(67-69)Cat>Tat p.H23Y DSN1_ENST00000373745.3_Missense_Mutation_p.H23Y|DSN1_ENST00000448110.1_Missense_Mutation_p.H7Y|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Missense_Mutation_p.H23Y|DSN1_ENST00000373734.4_Intron NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 23 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) TCCAATTGATGATCATGAGTC 0.393000 75 101 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482253 140482253 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr5:140482253C>T ENST00000231130.2 + 1 2020 c.2020C>T c.(2020-2022)Ccg>Tcg p.P674S NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 674 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGCCTCTCCCGGAGGCGGC 0.672000 106 47 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47788478 47788478 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr18:47788478G>A ENST00000398545.4 - 2 298 c.181C>T c.(181-183)Cgc>Tgc p.R61C NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 61 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GCTTTCAAGCGATCCCGCTCA 0.468000 51 100 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151128345 151128345 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:151128345C>T ENST00000370325.1 - 6 803 c.750G>A c.(748-750)gtG>gtA p.V250V GABRE_ENST00000370328.3_Silent_p.V250V|GABRE_ENST00000393914.3_Silent_p.V57V P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 250 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTTTGTTGCTCACTCCTGTAA 0.453000 27 57 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820703 35820703 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chrX:35820703G>A ENST00000399989.1 + 2 669 c.390G>A c.(388-390)atG>atA p.M130I MAGEB16_ENST00000399988.1_Missense_Mutation_p.M130I|MAGEB16_ENST00000399992.1_Missense_Mutation_p.M162I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.M130I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.M130I NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 130 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 AGTGTCAGATGAAAAAGCCAA 0.458000 24 36 0 0 1 0 0 CRABP2 1382 broad.mit.edu 37 1 156670351 156670351 + Missense_Mutation SNP C C T rs146571038 byFrequency TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:156670351C>T ENST00000368222.3 - 3 503 c.349G>A c.(349-351)Gat>Aat p.D117N CRABP2_ENST00000368221.1_Missense_Mutation_p.D117N NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 117 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) AGTTCCCCATCGTTGGTCAGT 0.547000 34 59 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136259526 136259526 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr9:136259526C>T ENST00000371957.3 + 8 799 c.692C>T c.(691-693)tCc>tTc p.S231F C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 231 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACCAGCTGCTCCTTCATGGAT 0.617000 38 35 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73479985 73479985 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr8:73479985C>T ENST00000523207.1 + 2 604 c.16C>T c.(16-18)Ccc>Tcc p.P6S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 6 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGAAAAGGCTCCCCCGGGCTT 0.502000 138 66 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187206838 187206838 + Nonsense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr4:187206838C>T ENST00000264692.4 + 12 1528 c.1195C>T c.(1195-1197)Caa>Taa p.Q399* F11_ENST00000403665.2_Nonsense_Mutation_p.Q451* P03951 FA11_HUMAN coagulation factor XI 451 Peptidase S1. W -> R (in dbSNP:rs1800439). blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CATTTTAAATCAATCTGAAAT 0.353000 30 48 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166927264 166927264 + Missense_Mutation SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:166927264G>A ENST00000271417.3 - 2 176 c.121C>T c.(121-123)Cgc>Tgc p.R41C ILDR2_ENST00000529387.1_Missense_Mutation_p.R41C|ILDR2_ENST00000529071.1_Missense_Mutation_p.R41C|ILDR2_ENST00000525740.1_Missense_Mutation_p.R41C|ILDR2_ENST00000469934.2_Missense_Mutation_p.R41C|ILDR2_ENST00000528703.1_Missense_Mutation_p.R41C|ILDR2_ENST00000526687.1_Missense_Mutation_p.R41C NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 41 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 AAGTGGCAGCGAAGCACAGTG 0.542000 81 112 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13733493 13733493 + Nonsense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:13733493C>T ENST00000354817.3 + 7 931 c.787C>T c.(787-789)Cga>Tga p.R263* FAR1_ENST00000527202.1_3'UTR NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 263 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 AGGAATTCTTCGAACAATACG 0.368000 16 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179588843 179588843 + Missense_Mutation SNP C C T rs148072021 by1000genomes TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:179588843C>T ENST00000589042.1 - 73 21367 c.21143G>A c.(21142-21144)cGa>cAa p.R7048Q TTN_ENST00000591111.1_Missense_Mutation_p.R6731Q|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R5804Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6731 Ig-like 52. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R5804L(1) 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) TTTCAGTCTTCGTGTGAAAGA 0.418000 6 19 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17034973 17034973 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr17:17034973G>A ENST00000395811.5 + 5 551 c.462G>A c.(460-462)caG>caA p.Q154Q MPRIP_ENST00000395804.3_Silent_p.Q154Q|MPRIP_ENST00000341712.4_Silent_p.Q154Q|MPRIP_ENST00000444976.1_Silent_p.Q154Q NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 154 Interaction with F-actin (By similarity). cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CCAACAAGCAGAATCAGAAGA 0.567000 30 45 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84744883 84744883 + Missense_Mutation SNP G G A rs117241349 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr10:84744883G>A ENST00000372142.2 + 11 1296 c.1022G>A c.(1021-1023)cGa>cAa p.R341Q NRG3_ENST00000537893.1_Missense_Mutation_p.R188Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R368Q|NRG3_ENST00000404547.1_Missense_Mutation_p.R562Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R342Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R538Q|NRG3_ENST00000545131.1_Missense_Mutation_p.R188Q NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 562 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.R538Q(1)|p.R341Q(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AAAACCCAACGAAATACATCA 0.408000 83 53 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46914607 46914607 + Silent SNP G G A TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr11:46914607G>A ENST00000378623.1 - 13 1856 c.1614C>T c.(1612-1614)gcC>gcT p.A538A NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 538 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CATCCAGATTGGCCACCTCAA 0.572000 9 30 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68934443 68934443 + Silent SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr4:68934443C>T ENST00000356291.2 - 7 707 c.648G>A c.(646-648)ggG>ggA p.G216G RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 216 Peptidase S1. 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 ATGGCCATTCCCCTTCCATAG 0.522000 33 54 0 0 1 0 0 EBI3 10148 broad.mit.edu 37 19 4231212 4231212 + Missense_Mutation SNP C C T TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr19:4231212C>T ENST00000221847.5 + 2 145 c.92C>T c.(91-93)cCc>cTc p.P31L NM_005755.2 NP_005746.2 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 31 Fibronectin type-III 1. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) CTGACACTGCCCCGGGTGCAA 0.637000 12 26 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G197delG(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.665 11 19 --- --- --- --- MAP3K2 10746 broad.mit.edu 37 2 128100701 128100701 + Splice_Site DEL C C - TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr2:128100701delC ENST00000409947.1 - 2 287 c.e2+1 MAP3K2_ENST00000344908.5_Splice_Site Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TTTGAACTCACCCATTATGGC 0.294 2 4 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 11 90 --- --- --- --- MANEA 79694 broad.mit.edu 37 6 96034896 96034897 + Frame_Shift_Del DEL TG TG - TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr6:96034896_96034897delTG ENST00000369293.1 + 2 715_716 c.581_582delTG c.(580-582)cfs p.L194fs MANEA_ENST00000358812.4_Intron Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 0 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) tgtttgtgtctgtatatatgca 0.282 3 6 --- --- --- --- RP11-180I4.2 0 broad.mit.edu 37 9 98468148 98468149 + RNA INS - - ACT TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr9:98468148_98468149insACT ENST00000580326.1 + 0 189 caatcaccatcaccaccaccac 0.569 2 4 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 5 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682290 85682290 + Frame_Shift_Del DEL C C - TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr16:85682290delC ENST00000253458.7 + 3 535 c.359delC c.(358-360)acfs p.T120fs GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) GTGCCCAGCACCCCCCCCGTG 0.687 8 204 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2127314 2127315 + RNA INS - - TT rs35166795 by1000genomes TCGA-BF-A3DJ-01A-11D-A20D-08 TCGA-BF-A3DJ-10A-02D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4e207fb-76b8-4330-baa4-7658431d42dd 517609a6-e93b-45ef-95c4-b8684db50350 g.chr18:2127314_2127315insTT ENST00000579097.1 - 0 132 tcatgtctctctgcccagttca 0.515 4 3 --- --- --- ---