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 GALNT1 2589 broad.mit.edu 37 18 33272258 33272258 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:33272258C>T ENST00000269195.5 + 8 1376 c.1273C>T c.(1273-1275)Cca>Tca p.P425S GALNT1_ENST00000537549.1_Missense_Mutation_p.P365S NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 425 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 TTCTCAAATTCCACGTCACTA 0.294000 4 72 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47839913 47839913 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:47839913G>T ENST00000371764.4 + 4 511 c.502G>T c.(502-504)Gat>Tat p.D168Y DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 168 Asp/Glu/Lys-rich. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGGCTCAGAAGATGAAGCCTC 0.498000 9 109 0.00448238 0.00470398 1 1 0 FAM90A1 55138 broad.mit.edu 37 12 8375360 8375360 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:8375360C>T ENST00000538603.1 - 7 1011 c.453G>A c.(451-453)ccG>ccA p.P151P FAM90A1_ENST00000307435.6_Silent_p.P151P NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 151 nucleic acid binding|zinc ion binding p.P151P(1) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TTGTGTGGACCGGCATTGGCC 0.527000 3 23 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922485 24922485 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr15:24922485G>T ENST00000329468.2 + 1 1945 c.1471G>T c.(1471-1473)Gcg>Tcg p.A491S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGTAGGAGCAGCGCCTCTCAC 0.522000 19 184 5.35267e-07 6.2649e-07 1 1 0 AIPL1 23746 broad.mit.edu 37 17 6328971 6328971 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:6328971G>A ENST00000381129.3 - 6 1044 c.964C>T c.(964-966)Cgc>Tgc p.R322C AIPL1_ENST00000574506.1_Missense_Mutation_p.R310C|AIPL1_ENST00000576776.1_Missense_Mutation_p.R298C|AIPL1_ENST00000250087.5_Missense_Mutation_p.R259C|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000576307.1_Missense_Mutation_p.R262C|AIPL1_ENST00000570466.1_Missense_Mutation_p.R300C NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 322 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) TTCCGGCAGCGCAGCCGCTCC 0.672000 8 52 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216284084 216284084 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:216284084C>A ENST00000354785.4 - 12 2069 c.1700G>T c.(1699-1701)gGg>gTg p.G567V FN1_ENST00000443816.1_Missense_Mutation_p.G567V|FN1_ENST00000421182.1_Missense_Mutation_p.G567V|FN1_ENST00000357867.4_Missense_Mutation_p.G567V|FN1_ENST00000345488.5_Missense_Mutation_p.G567V|FN1_ENST00000357009.2_Missense_Mutation_p.G567V|FN1_ENST00000323926.6_Missense_Mutation_p.G567V|FN1_ENST00000432072.2_Missense_Mutation_p.G567V|FN1_ENST00000426059.1_Missense_Mutation_p.G567V|FN1_ENST00000446046.1_Missense_Mutation_p.G567V|FN1_ENST00000346544.3_Missense_Mutation_p.G567V|FN1_ENST00000359671.1_Missense_Mutation_p.G567V|FN1_ENST00000356005.4_Missense_Mutation_p.G567V|FN1_ENST00000336916.4_Missense_Mutation_p.G567V P02751 FINC_HUMAN fibronectin 1 567 Collagen-binding.|Fibronectin type-I 9. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATAAAACGTCCCAGTCTCTGA 0.433000 5 56 0.0215528 0.0219763 1 1 0 OR2F2 135948 broad.mit.edu 37 7 143632906 143632906 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:143632906C>T ENST00000408955.2 + 1 648 c.581C>T c.(580-582)tCc>tTc p.S194F NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) GACACCTCCTCCAATGAGGCT 0.488000 20 83 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43622606 43622606 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr15:43622606C>G ENST00000305641.5 - 1 197 c.82G>C c.(82-84)Gcc>Ccc p.A28P LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_Missense_Mutation_p.A28P NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 28 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) CCGCGCGCGGCCAGGGAACGC 0.706000 7 26 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50051844 50051844 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:50051844C>A ENST00000376042.1 + 6 973 c.675C>A c.(673-675)acC>acA p.T225T CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.T225T Q8WWL7 CCNB3_HUMAN cyclin B3 225 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CAGCCATCACCAAGAAGACAT 0.473000 6 45 3.59834e-05 4.01056e-05 1 1 0 MAP2 4133 broad.mit.edu 37 2 210558582 210558582 + Missense_Mutation SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:210558582A>G ENST00000360351.4 + 7 2194 c.1688A>G c.(1687-1689)tAt>tGt p.Y563C MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Y559C|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 563 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATGCCATTTTATGAAGATAAA 0.378000 43 70 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179606632 179606632 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:179606632A>T ENST00000589042.1 - 48 11552 c.11328T>A c.(11326-11328)ttT>ttA p.F3776L TTN_ENST00000591111.1_Missense_Mutation_p.F3459L|TTN_ENST00000359218.5_Missense_Mutation_p.F3538L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F3605L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F3413L|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3459 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) CGGCAGACAGAAAAGAACTAG 0.299000 3 4 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38884454 38884454 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr21:38884454A>T ENST00000339659.3 + 11 3355 c.1885A>T c.(1885-1887)Aat>Tat p.N629Y DYRK1A_ENST00000398960.2_Missense_Mutation_p.N638Y|DYRK1A_ENST00000455387.2_Missense_Mutation_p.N410Y|DYRK1A_ENST00000338785.3_3'UTR NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 638 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TTCTCCAACGAATAGCTCCTC 0.532000 7 42 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624181 53624181 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr13:53624181C>A ENST00000219022.2 + 5 886 c.808C>A c.(808-810)Cta>Ata p.L270I NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 270 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GTTTTCTTATCTATATGGTGC 0.453000 16 66 2.32078e-09 2.82978e-09 1 1 0 CIT 11113 broad.mit.edu 37 12 120210636 120210636 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:120210636C>T ENST00000392521.2 - 17 2075 c.2020G>A c.(2020-2022)Gag>Aag p.E674K CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E674K NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 674 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGCAGCTTCTCCAGCTCCCTC 0.592000 48 138 0 0 1 0 0 SPPL3 121665 broad.mit.edu 37 12 121206210 121206210 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:121206210G>C ENST00000353487.2 - 8 1194 c.691C>G c.(691-693)Cta>Gta p.L231V NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 232 integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTCCGGGATAGAACGTCAAGG 0.537000 10 166 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79650952 79650952 + Nonsense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:79650952T>A ENST00000275034.4 - 40 5091 c.4924A>T c.(4924-4926)Aaa>Taa p.K1642* PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1642 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) ACTTTAGGTTTCCTTCCAGGT 0.403000 21 87 0 0 1 0 0 STK17B 9262 broad.mit.edu 37 2 197028013 197028013 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:197028013T>C ENST00000263955.4 - 2 381 c.95A>G c.(94-96)tAt>tGt p.Y32C STK17B_ENST00000409228.1_Missense_Mutation_p.Y32C NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b 32 apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) TGTAAGTATATAGAAATTATT 0.318000 51 59 0 0 1 0 0 MFAP3L 9848 broad.mit.edu 37 4 170913201 170913201 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:170913201G>A ENST00000361618.3 - 3 865 c.558C>T c.(556-558)atC>atT p.I186I RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.I83I NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 186 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) AGAACTCATTGATGGCCTTCT 0.522000 9 106 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64415927 64415927 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:64415927G>T ENST00000262043.3 + 12 3716 c.3376G>T c.(3376-3378)Gca>Tca p.A1126S PHF3_ENST00000393387.1_Missense_Mutation_p.A1126S Q92576 PHF3_HUMAN PHD finger protein 3 1126 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGGTCGAATGGCACCACCTGT 0.353000 3 36 0.115264 0.116764 1 1 0 DHX16 8449 broad.mit.edu 37 6 30633346 30633346 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:30633346C>A ENST00000376442.3 - 5 1026 c.831G>T c.(829-831)cgG>cgT p.R277R NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 277 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 GGGCGAGATCCCGCACTCGCC 0.627000 6 68 0.000157383 0.000171324 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10466057 10466057 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:10466057C>A ENST00000382483.3 - 4 5774 c.5551G>T c.(5551-5553)Gta>Tta p.V1851L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1851 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGGCCTCTACACCTTCTGAC 0.642000 33 139 3.11337e-16 4.13053e-16 1 1 0 PRAMEF12 390999 broad.mit.edu 37 1 12835253 12835253 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:12835253G>T ENST00000357726.4 + 1 270 c.243G>T c.(241-243)gtG>gtT p.V81V NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 81 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTCGAGCTGTGCTGGAGGGGC 0.587000 7 82 8.12818e-05 8.91047e-05 1 1 0 LONP1 9361 broad.mit.edu 37 19 5705926 5705926 + Silent SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:5705926G>C ENST00000360614.3 - 8 1381 c.1224C>G c.(1222-1224)ggC>ggG p.G408G LONP1_ENST00000590729.1_Silent_p.G278G|LONP1_ENST00000540670.2_Silent_p.G212G|LONP1_ENST00000585374.1_Silent_p.G294G|LONP1_ENST00000593119.1_Silent_p.G344G NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 408 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCTTCTCCAGGCCCAGCTCCT 0.582000 19 72 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49089420 49089420 + Silent SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr13:49089420C>G ENST00000344532.3 - 6 693 c.270G>C c.(268-270)cgG>cgC p.R90R RCBTB2_ENST00000544492.1_5'UTR|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000430805.2_Silent_p.R95R|RCBTB2_ENST00000544904.1_Silent_p.R66R NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 90 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) AATCCAGTCTCCGAGGTTCAA 0.463000 9 135 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16006318 16006318 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:16006318G>A ENST00000221700.5 - 3 436 c.341C>T c.(340-342)tCa>tTa p.S114L CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 114 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GATGGTACCTGAGGCGTTGAT 0.607000 10 155 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62849323 62849323 + Splice_Site SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:62849323T>A ENST00000512091.1 + 18 3779 c.e18+2 LPHN3_ENST00000514157.1_Splice_Site|LPHN3_ENST00000511324.1_Splice_Site|LPHN3_ENST00000507625.1_Splice_Site|LPHN3_ENST00000504896.1_Splice_Site|LPHN3_ENST00000506720.1_Splice_Site|LPHN3_ENST00000509896.1_Splice_Site|LPHN3_ENST00000508946.1_Splice_Site|LPHN3_ENST00000545650.1_Splice_Site|LPHN3_ENST00000508693.1_Splice_Site|LPHN3_ENST00000507164.1_Splice_Site|LPHN3_ENST00000514591.1_Splice_Site|LPHN3_ENST00000506746.1_Splice_Site|LPHN3_ENST00000514996.1_Splice_Site|LPHN3_ENST00000506700.1_Splice_Site Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 AGATAAAGTGTAAGTTTATTG 0.383000 6 89 0 0 1 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032484 142032484 + RNA SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:142032484C>A ENST00000547918.2 + 0 337 CCAGCGCACACAGCAGGGGGA 0.562000 12 16 7.03913e-09 8.47235e-09 1 1 0 AGAP11 119385 broad.mit.edu 37 10 88764085 88764085 + RNA SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:88764085G>C ENST00000444431.1 + 0 2627 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TCCACAGTGTGACCTTGGAGA 0.378000 11 175 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69973927 69973927 + Silent SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:69973927A>G ENST00000305231.7 + 5 1243 c.1197A>G c.(1195-1197)caA>caG p.Q399Q UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 399 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTGCCGATCAACCTGATAACA 0.468000 10 131 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92365217 92365217 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:92365217T>C ENST00000276609.3 + 11 1546 c.1307T>C c.(1306-1308)aTc>aCc p.I436T SLC26A7_ENST00000523719.1_Missense_Mutation_p.I436T|SLC26A7_ENST00000309536.2_Missense_Mutation_p.I436T|SLC26A7_ENST00000520249.1_3'UTR NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 436 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) GTGGATAAAATCGATTGGGTA 0.308000 23 62 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5733209 5733209 + Silent SNP T T C rs139931919 byFrequency TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:5733209T>C ENST00000382674.2 + 4 626 c.442T>C c.(442-444)Ttg>Ctg p.L148L EVC_ENST00000264956.6_Silent_p.L148L|EVC_ENST00000509451.1_Silent_p.L148L P57679 EVC_HUMAN Ellis van Creveld syndrome 148 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) GCAGGCTGTTTTGCCACACCA 0.602000 5 86 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16419110 16419110 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:16419110C>G ENST00000380672.4 - 7 3234 c.3177G>C c.(3175-3177)ttG>ttC p.L1059F BNC2_ENST00000380667.2_Missense_Mutation_p.L992F|BNC2_ENST00000545497.1_Missense_Mutation_p.L964F NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 1059 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GCATTTCTCTCAAATGCACAG 0.463000 4 69 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4511063 4511063 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:4511063C>T ENST00000301286.3 - 3 2866 c.2867G>A c.(2866-2868)gGg>gAg p.G956E NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 956 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 ATTCACTGCCCCCGTGACTCC 0.592000 11 44 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171417558 171417558 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:171417558C>T ENST00000356327.5 - 12 1274 c.1204G>A c.(1204-1206)Gac>Aac p.D402N PLD1_ENST00000342215.6_Missense_Mutation_p.D402N|PLD1_ENST00000340989.4_Missense_Mutation_p.D402N|PLD1_ENST00000351298.4_Missense_Mutation_p.D402N NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 402 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGAATGCAGTCCAACCTCCAA 0.368000 15 303 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49696497 49696497 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:49696497C>A ENST00000433368.2 - 8 822 c.753G>T c.(751-753)caG>caT p.Q251H CRISP3_ENST00000393666.1_Missense_Mutation_p.Q228H|CRISP3_ENST00000423399.2_Missense_Mutation_p.Q138H|CRISP3_ENST00000263045.4_Missense_Mutation_p.Q241H|CRISP3_ENST00000371159.4_Missense_Mutation_p.Q259H NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 228 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) CCCTGACCAACTGATGTTTAC 0.388000 24 104 9.57634e-11 1.21857e-10 1 1 0 RAD51D 5892 broad.mit.edu 37 17 33434396 33434396 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:33434396C>A ENST00000345365.6 - 4 589 c.334G>T c.(334-336)Ggc>Tgc p.G112C RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000460118.2_Intron|RAD51D_ENST00000590016.1_Missense_Mutation_p.G132C|RAD51D_ENST00000360276.3_Missense_Mutation_p.G112C|RAD51D_ENST00000394589.4_Missense_Mutation_p.G112C|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000335858.7_Intron NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 112 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TGAGTTTTGCCGCTACCTGGG 0.502000 Direct reversal of damage 9 45 0.00621372 0.00644846 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345057 33345057 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:33345057G>C ENST00000374796.2 - 8 4064 c.1494C>G c.(1492-1494)aaC>aaG p.N498K NCOA6_ENST00000359003.2_Missense_Mutation_p.N498K Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 498 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GTGGCCCCTGGTTTGGTGGTT 0.493000 27 95 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821329 5821329 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:5821329C>T ENST00000381095.3 - 5 2017 c.1390G>A c.(1390-1392)Ggc>Agc p.G464S NLGN4X_ENST00000538097.1_Missense_Mutation_p.G464S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G484S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G464S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G464S NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 464 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GTGGGGGAGCCGTACTGCGCG 0.612000 12 19 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64061838 64061838 + Splice_Site SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:64061838G>A ENST00000324472.4 - 1 519 c.337_splice c.e1+1 p.I112_splice RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 112 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCTCCTCACCGATGCCGAGAG 0.592000 8 79 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174085953 174085953 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:174085953G>C ENST00000338983.3 + 12 1258 c.1063G>C c.(1063-1065)Gag>Cag p.E355Q MLTK_ENST00000375213.3_Intron|MLTK_ENST00000539448.1_Missense_Mutation_p.E355Q|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Missense_Mutation_p.E254Q|MLK7-AS1_ENST00000422703.1_RNA NM_133646.2 NP_598407.1 AAACAGTGCAGAGATGTCATG 0.473000 14 70 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53553735 53553735 + Silent SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:53553735A>T ENST00000371494.4 - 11 1756 c.1629T>A c.(1627-1629)gcT>gcA p.A543A SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 543 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) TCAGACTCGCAGCGGGCAGCT 0.662000 10 30 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86872977 86872977 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:86872977C>A ENST00000373119.4 + 4 915 c.770C>A c.(769-771)gCt>gAt p.A257D KLHL4_ENST00000373114.4_Missense_Mutation_p.A257D NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 257 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AGTTTGCTGGCTGCAGCTTGT 0.388000 6 21 3.59834e-05 4.01056e-05 1 1 0 SCN8A 6334 broad.mit.edu 37 12 52139713 52139713 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:52139713G>C ENST00000354534.5 + 13 2203 c.2025G>C c.(2023-2025)aaG>aaC p.K675N SCN8A_ENST00000545061.1_Missense_Mutation_p.K675N|SCN8A_ENST00000550891.1_Missense_Mutation_p.K675N NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 675 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AAATTAAGAAGAAAGGCCCTG 0.373000 4 30 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325651 31325651 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:31325651C>T ENST00000269197.5 + 12 5839 c.5839C>T c.(5839-5841)Ctg>Ttg p.L1947L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1947 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 TACTGCAGCTCTGTTACAGGC 0.532000 6 88 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24463630 24463630 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:24463630G>C ENST00000270800.1 - 3 384 c.346C>G c.(346-348)Ctg>Gtg p.L116V NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 116 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) CTGTGCTGCAGAGAGCTGAAC 0.622000 3 32 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20344899 20344899 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:20344899G>T ENST00000298642.2 + 1 509 c.473G>T c.(472-474)aGt>aTt p.S158I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTCAATGAGTCAGGTCATA 0.488000 61 189 9.53978e-28 1.31807e-27 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176659498 176659498 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:176659498C>G ENST00000367662.3 + 5 3527 c.2363C>G c.(2362-2364)cCc>cGc p.P788R PAPPA2_ENST00000367661.3_Missense_Mutation_p.P788R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 788 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAACCAGAGCCCACTAGTGAC 0.562000 31 98 0 0 1 0 0 CISH 1154 broad.mit.edu 37 3 50645412 50645412 + Missense_Mutation SNP C C A rs143405439 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:50645412C>A ENST00000443053.2 - 4 681 c.454G>T c.(454-456)Gac>Tac p.D152Y CISH_ENST00000348721.3_Missense_Mutation_p.D135Y NM_013324.5 NP_037456.5 Q9NSE2 CISH_HUMAN cytokine inducible SH2-containing protein 135 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) AAGCTGGAGTCGGCATACTCA 0.577000 4 53 0.00909568 0.00939753 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129468137 129468137 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:129468137G>A ENST00000421865.2 + 6 902 c.853G>A c.(853-855)Ggg>Agg p.G285R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 285 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTCAGTTGGAGGGATGTGCAT 0.433000 21 91 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960535 19960535 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr22:19960535C>A ENST00000263207.3 - 15 2754 c.2463G>T c.(2461-2463)gcG>gcT p.A821A ARVCF_ENST00000401994.1_Silent_p.A758A|ARVCF_ENST00000406259.1_Silent_p.A815A|ARVCF_ENST00000344269.3_Silent_p.A758A|ARVCF_ENST00000406522.1_Silent_p.A752A NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 821 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CGTGTGACGCCGCCTTCGCTT 0.682000 6 48 3.59834e-05 4.01056e-05 1 1 0 ZNF256 10172 broad.mit.edu 37 19 58452647 58452647 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:58452647T>A ENST00000282308.3 - 3 1725 c.1529A>T c.(1528-1530)cAg>cTg p.Q510L ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 510 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) GTGAACTCTCTGGTGTTGAAG 0.463000 6 76 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103290767 103290767 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:103290767C>G ENST00000424685.2 - 16 2115 c.1956G>C c.(1954-1956)tgG>tgC p.W652C RELN_ENST00000343529.5_Missense_Mutation_p.W652C|RELN_ENST00000428762.1_Missense_Mutation_p.W652C P78509 RELN_HUMAN reelin 652 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGTTTGTCTCCAGCGAATCC 0.438000 7 79 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008501 88008501 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:88008501C>A ENST00000276127.4 + 3 345 c.86C>A c.(85-87)aCa>aAa p.T29K CPXCR1_ENST00000373111.1_Missense_Mutation_p.T29K NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 29 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 GACTGTAGTACAGACATAGAG 0.423000 8 7 5.18039e-06 5.94409e-06 1 1 0 OTOR 56914 broad.mit.edu 37 20 16729511 16729511 + Splice_Site SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:16729511G>T ENST00000246081.2 + 2 159 c.e2-1 NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 TTTTCTTCCAGATACTATTTC 0.328000 10 11 3.86212e-05 4.2538e-05 1 1 0 PSKH2 85481 broad.mit.edu 37 8 87060869 87060869 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:87060869G>T ENST00000276616.2 - 3 1054 c.980C>A c.(979-981)tCt>tAt p.S327Y NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 327 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) CTTCATGGAAGACCCTGCAGC 0.532000 33 88 3.80469e-20 5.18015e-20 1 1 0 FSCB 84075 broad.mit.edu 37 14 44975506 44975506 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:44975506G>C ENST00000340446.4 - 1 976 c.685C>G c.(685-687)Ctt>Gtt p.L229V NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 229 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TCTTCTAAAAGTACCGGGGGA 0.408000 5 101 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42907022 42907022 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:42907022C>T ENST00000422265.1 + 3 1203 c.1028C>T c.(1027-1029)tCa>tTa p.S343L ACKR2_ENST00000442925.1_Missense_Mutation_p.S343L|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.S343L|ACKR2_ENST00000471537.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 GCCCAGGCCTCATTATCCAGC 0.547000 10 69 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160394029 160394029 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:160394029C>A ENST00000368061.2 + 7 1735 c.1261C>A c.(1261-1263)Ctg>Atg p.L421M NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 421 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAGAGCATCCTGCAGCACCT 0.597000 7 66 0.00198382 0.00209129 1 1 0 CSK 1445 broad.mit.edu 37 15 75093898 75093898 + Silent SNP G G A rs143495597 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr15:75093898G>A ENST00000220003.9 + 10 1578 c.849G>A c.(847-849)cgG>cgA p.R283R CSK_ENST00000567571.1_Silent_p.R283R|CSK_ENST00000439220.2_Silent_p.R283R|CSK_ENST00000309470.9_Silent_p.R283R NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 283 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 CTAGGGGTCGGTCAGTGCTGG 0.632000 4 40 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32844925 32844925 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:32844925G>C ENST00000311921.3 + 2 1381 c.1189G>C c.(1189-1191)Gtg>Ctg p.V397L ZNF507_ENST00000544431.1_Missense_Mutation_p.V397L|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.V397L NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) GCATGTTAACGTGATAGTGGA 0.463000 11 60 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26784835 26784835 + Silent SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:26784835C>G ENST00000381340.3 - 22 3314 c.2898G>C c.(2896-2898)gtG>gtC p.V966V RP11-666F17.1_ENST00000414098.2_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 966 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGGTGTCCATCACAGTCACAT 0.498000 9 133 0 0 1 0 0 PPP2R2A 5520 broad.mit.edu 37 8 26212074 26212074 + Nonsense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:26212074G>T ENST00000380737.3 + 4 600 c.271G>T c.(271-273)Gaa>Taa p.E91* PPP2R2A_ENST00000315985.7_Nonsense_Mutation_p.E101* NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) GAAAAGTTTAGAAATAGAAGA 0.338000 5 43 1 1 1 1 0 KIAA1109 84162 broad.mit.edu 37 4 123249451 123249451 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:123249451G>A ENST00000264501.4 + 66 11561 c.11188G>A c.(11188-11190)Gag>Aag p.E3730K KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3730K Q2LD37 K1109_HUMAN KIAA1109 3730 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGAAGATTCCGAGAAGGATGA 0.418000 12 50 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960838 73960838 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:73960838C>A ENST00000373468.1 - 3 4205 c.3554G>T c.(3553-3555)gGg>gTg p.G1185V KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1185V Q5QGS0 K2022_HUMAN KIAA2022 1185 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTTCATAGCCCCACTCTTGCT 0.413000 6 63 0.0215528 0.0219763 1 1 0 SLC30A3 7781 broad.mit.edu 37 2 27479696 27479696 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:27479696G>A ENST00000233535.4 - 6 1195 c.843C>T c.(841-843)acC>acT p.T281T SLC30A3_ENST00000447008.2_Silent_p.T276T NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 281 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGTGGGAGCGGTGGATCCAA 0.582000 15 31 0 0 1 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776680 159776680 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:159776680C>T ENST00000393975.3 - 3 491 c.488G>A c.(487-489)gGg>gAg p.G163E NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 118 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCATGCTTCCCGGGGGTACC 0.687000 8 104 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599866 123599866 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:123599866G>C ENST00000340011.5 + 5 1730 c.1373G>C c.(1372-1374)tGt>tCt p.C458S SPAM1_ENST00000223028.7_Missense_Mutation_p.C458S|SPAM1_ENST00000439500.1_Missense_Mutation_p.C458S|SPAM1_ENST00000402183.2_Missense_Mutation_p.C458S|SPAM1_ENST00000460182.1_Missense_Mutation_p.C458S NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 458 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GTTGATGTGTGTATTGCTGAT 0.403000 49 52 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21643161 21643161 + Nonsense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:21643161A>T ENST00000444129.2 - 4 834 c.366T>A c.(364-366)tgT>tgA p.C122* RECQL_ENST00000421138.2_Nonsense_Mutation_p.C122* NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 122 Helicase ATP-binding. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 GTAACTGGTAACATAAGCTCT 0.338000 Other identified genes with known or suspected DNA repair function 27 83 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 16004574 16004574 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:16004574C>T ENST00000268712.3 - 20 2937 c.2680G>A c.(2680-2682)Gag>Aag p.E894K NCOR1_ENST00000395848.1_Missense_Mutation_p.E801K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E910K NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 894 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTCTGCCTCTCTGGCTCTCCA 0.562000 7 73 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104094 168104094 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:168104094C>T ENST00000409195.1 + 9 6281 c.6192C>T c.(6190-6192)gtC>gtT p.V2064V XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V1842V|XIRP2_ENST00000295237.9_Silent_p.V2064V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1889 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAACGGGTGTCTGGACTGATA 0.353000 5 69 0 0 1 0 0 MFSD9 84804 broad.mit.edu 37 2 103335600 103335600 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:103335600C>T ENST00000258436.5 - 6 747 c.704G>A c.(703-705)cGa>cAa p.R235Q NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 235 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 ATGGGTCTTTCGCAATGGCAG 0.567000 11 142 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058229 152058229 + Silent SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:152058229T>C ENST00000368806.1 - 3 1993 c.1929A>G c.(1927-1929)ccA>ccG p.P643P NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 643 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CAGCTGCACCTGGGCCTTTGG 0.547000 12 132 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58370928 58370928 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:58370928G>T ENST00000339656.5 + 3 1330 c.1148G>T c.(1147-1149)gGa>gTa p.G383V ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.G382V|ZNF587_ENST00000419854.1_Missense_Mutation_p.G340V|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) TACAAGTGTGGAGAATGTGGG 0.458000 39 139 4.32679e-17 5.80636e-17 1 1 0 OPA1 4976 broad.mit.edu 37 3 193385011 193385011 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:193385011T>A ENST00000361510.2 + 29 3159 c.2925T>A c.(2923-2925)gaT>gaA p.D975E OPA1_ENST00000392438.3_Missense_Mutation_p.D920E|OPA1_ENST00000361715.2_Missense_Mutation_p.D939E|OPA1_ENST00000361908.3_Missense_Mutation_p.D957E|OPA1_ENST00000361150.2_Missense_Mutation_p.D921E|OPA1_ENST00000361828.2_Missense_Mutation_p.D938E NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 920 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TTGCTGAAGATGGTGAGAAGA 0.383000 34 40 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885984 88885984 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:88885984G>T ENST00000319675.3 - 1 312 c.216C>A c.(214-216)gaC>gaA p.D72E NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 72 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGTTAAATCGGTCGCTTGCCA 0.527000 28 80 2.48779e-11 3.19176e-11 1 1 0 PIAS3 10401 broad.mit.edu 37 1 145578314 145578314 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:145578314C>G ENST00000393045.2 + 2 367 c.277C>G c.(277-279)Cta>Gta p.L93V PIAS3_ENST00000369299.3_Missense_Mutation_p.L84V|PIAS3_ENST00000369298.1_Intron NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 93 Pro-rich. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCCTGGTCCTCTAGCTCCCAT 0.657000 8 164 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19864441 19864441 + Missense_Mutation SNP A A C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:19864441A>C ENST00000396085.1 + 3 771 c.410A>C c.(409-411)aAt>aCt p.N137T NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_Missense_Mutation_p.N68T|NAV2_ENST00000349880.4_Missense_Mutation_p.N137T|NAV2_ENST00000360655.4_Missense_Mutation_p.N73T|NAV2_ENST00000527559.2_Missense_Mutation_p.N66T|NAV2_ENST00000396087.3_Missense_Mutation_p.N137T NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 137 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GAAGACATCAATGGCTGTCCG 0.403000 8 65 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66323653 66323653 + RNA SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:66323653C>T ENST00000513398.1 + 0 853 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 AGAAGGCCATCATGACCTATG 0.607000 6 115 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107846989 107846989 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:107846989C>A ENST00000285311.3 - 2 1045 c.340G>T c.(340-342)Ggc>Tgc p.G114C DKK2_ENST00000513208.1_Missense_Mutation_p.G14C|DKK2_ENST00000510463.1_Missense_Mutation_p.G68C NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 114 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CAGCACATGCCATCTCGGTGG 0.493000 36 86 2.19358e-23 3.00411e-23 1 1 0 DOCK5 80005 broad.mit.edu 37 8 25226163 25226163 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:25226163C>T ENST00000276440.7 + 33 3404 c.3360C>T c.(3358-3360)ctC>ctT p.L1120L NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1120 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AAGTAGAGCTCCGGAAAGCCA 0.448000 5 22 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17132110 17132110 + Splice_Site SNP T T A rs67139828 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:17132110T>A ENST00000265970.7 - 21 3414 c.e21-2 PIK3C2A_ENST00000531428.1_Splice_Site|PIK3C2A_ENST00000540361.1_Splice_Site NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TTCACCAACCTTGAAATCAAG 0.368000 10 49 0 0 1 0 0 STEAP1B 256227 broad.mit.edu 37 7 22532236 22532236 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:22532236G>C ENST00000404369.4 - 4 1125 c.710C>G c.(709-711)tCt>tGt p.S237C STEAP1B_ENST00000406890.2_Missense_Mutation_p.S218C NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 218 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity endometrium(1)|kidney(1)|lung(2) 4 AGATGGAATAGATGTCACAGC 0.378000 5 69 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39987102 39987102 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:39987102G>A ENST00000373257.3 + 19 2422 c.2331G>A c.(2329-2331)gtG>gtA p.V777V LPIN3_ENST00000491528.1_3'UTR NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 777 C-LIP. fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) ACCGGCAGGTGGGCCTGCCTG 0.607000 4 62 0 0 1 0 0 BMF 90427 broad.mit.edu 37 15 40398001 40398001 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr15:40398001A>T ENST00000354670.4 - 3 521 c.287T>A c.(286-288)tTt>tAt p.F96Y BMF_ENST00000558774.1_Missense_Mutation_p.F96Y|BMF_ENST00000559701.1_Missense_Mutation_p.F96Y|BMF_ENST00000220446.4_Missense_Mutation_p.F96Y|BMF_ENST00000431415.3_Missense_Mutation_p.F96Y|BMF_ENST00000397573.1_Missense_Mutation_p.F96Y|BMF_ENST00000561360.1_Missense_Mutation_p.F96Y|BMF_ENST00000561282.1_Missense_Mutation_p.F96Y NM_001003940.1 NP_001003940.1 Q96LC9 BMF_HUMAN Bcl2 modifying factor 96 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) CTCACCATAAAAGAGTCGCTG 0.577000 9 87 0 0 1 0 0 SUPT7L 9913 broad.mit.edu 37 2 27883966 27883966 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:27883966G>C ENST00000337768.5 - 3 873 c.304C>G c.(304-306)Ctt>Gtt p.L102V SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000464789.2_Missense_Mutation_p.L100V|SUPT7L_ENST00000406540.1_Missense_Mutation_p.L100V|SUPT7L_ENST00000405491.1_Missense_Mutation_p.L100V NM_014860.1 NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 102 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) CACGAGGGAAGAGGTTCACTC 0.522000 5 45 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56552345 56552345 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:56552345C>A ENST00000390649.3 + 11 2844 c.2844C>A c.(2842-2844)gtC>gtA p.V948V NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 948 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CAGCCCTCGTCAGCAACCGGA 0.562000 6 80 0.0215528 0.0219763 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103444964 103444964 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:103444964C>A ENST00000358392.2 - 32 2937 c.2620G>T c.(2620-2622)Ggt>Tgt p.G874C COL11A1_ENST00000512756.1_Missense_Mutation_p.G746C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G862C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G823C NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 862 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCATTGGCACCTGGAAACCCA 0.348000 9 28 3.86212e-05 4.2538e-05 1 1 0 PPP1R8 5511 broad.mit.edu 37 1 28169792 28169792 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:28169792G>T ENST00000373931.4 + 5 957 c.162G>T c.(160-162)agG>agT p.R54S PPP1R8_ENST00000236412.7_5'UTR|PPP1R8_ENST00000311772.5_Missense_Mutation_p.R196S NM_138558.2 NP_612568.1 Q12972 PP1R8_HUMAN protein phosphatase 1, regulatory subunit 8 196 FHA.|Interaction with CDC5L, SF3B1 and MELK. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) AGAGGAAGAGGAAGAACTCAC 0.468000 6 109 2.7689e-08 3.29027e-08 1 1 0 OR4C6 219432 broad.mit.edu 37 11 55432682 55432682 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:55432682G>A ENST00000314259.3 + 1 69 c.40G>A c.(40-42)Ggt>Agt p.G14S NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 14 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 CATTCTTCTGGGTCTCACAGA 0.378000 25 93 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36474327 36474327 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:36474327G>C ENST00000373191.4 + 7 1179 c.830G>C c.(829-831)aGa>aCa p.R277T AGO3_ENST00000246314.6_Missense_Mutation_p.R43T|RP4-665N4.8_ENST00000466576.2_RNA NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 GGAACAATGAGACGGAAATAC 0.403000 8 53 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142562064 142562064 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:142562064C>T ENST00000392957.2 + 7 1293 c.506C>T c.(505-507)tCc>tTc p.S169F EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.S169F NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 169 Poly-Ser. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) tcctcctcctcctcctcctcc 0.627000 13 139 0 0 1 0 0 STK24 8428 broad.mit.edu 37 13 99127078 99127078 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr13:99127078C>T ENST00000397517.2 - 5 670 c.594G>A c.(592-594)tcG>tcA p.S198S STK24_ENST00000539966.1_Silent_p.S179S|STK24_ENST00000376547.3_Silent_p.S210S NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 210 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCCTCACCTTCGAGTCATAGG 0.587000 8 117 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881739 228881739 + Silent SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:228881739G>C ENST00000392056.3 - 7 3877 c.3831C>G c.(3829-3831)gtC>gtG p.V1277V SPHKAP_ENST00000344657.5_Silent_p.V1277V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1277 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACGCGCTACTGACCGGCTGCA 0.517000 12 99 0 0 1 0 0 RAB5B 5869 broad.mit.edu 37 12 56383883 56383883 + Splice_Site SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:56383883G>T ENST00000360299.5 + 3 536 c.e3+1 RAB5B_ENST00000448789.2_Splice_Site|RAB5B_ENST00000553116.1_Splice_Site NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) TACTAATCAGGTAAGTGAGCT 0.512000 4 24 0.00024832 0.000269061 1 1 0 JAK2 3717 broad.mit.edu 37 9 5044488 5044488 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:5044488G>C ENST00000381652.3 + 5 930 c.436G>C c.(436-438)Gat>Cat p.D146H JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.D146H NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 146 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TCCTCTTCTTGATGACTTTGT 0.363000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 7 48 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106841863 106841863 + Nonsense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:106841863C>G ENST00000222574.4 + 11 1718 c.1532C>G c.(1531-1533)tCa>tGa p.S511* HBP1_ENST00000485846.1_Nonsense_Mutation_p.S511*|HBP1_ENST00000468410.1_Nonsense_Mutation_p.S511* NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 511 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CCACAGGGCTCACAACAACAT 0.294000 7 34 0 0 1 0 0 TCEB3 6924 broad.mit.edu 37 1 24077443 24077443 + Nonsense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:24077443G>A ENST00000418390.2 + 4 697 c.426G>A c.(424-426)tgG>tgA p.W142* NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 142 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AAGAAACCTGGAAAGCCACGG 0.552000 7 55 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180897675 180897675 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:180897675C>A ENST00000367588.4 + 4 1226 c.1171C>A c.(1171-1173)Cat>Aat p.H391N KIAA1614_ENST00000367587.1_Missense_Mutation_p.H12N NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 391 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CCGTGCCAGCCATGACATCGT 0.667000 14 45 1.3612e-06 1.58524e-06 1 1 0 ZNF684 127396 broad.mit.edu 37 1 41012295 41012295 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:41012295G>A ENST00000372699.3 + 5 551 c.300G>A c.(298-300)ttG>ttA p.L100L ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) ACAATTTTTTGAAGTCAGTTT 0.333000 6 57 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14479179 14479179 + RNA SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:14479179C>T ENST00000581457.1 - 0 729 NR_024076.1 TTGGCTTTTTCAATCATCTGC 0.527000 4 39 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6867160 6867160 + Silent SNP C C T rs148877908 byFrequency TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:6867160C>T ENST00000299454.4 + 1 278 c.247C>T c.(247-249)Ctg>Ttg p.L83L OR10A5_ENST00000379831.2_Silent_p.L87L Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCCCAAAATGCTGGGGACCCT 0.498000 47 91 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 171177825 171177825 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:171177825G>A ENST00000436636.2 - 1 372 c.28C>T c.(28-30)Ctg>Ttg p.L10L TNIK_ENST00000488470.1_Silent_p.L10L|TNIK_ENST00000470834.1_Silent_p.L10L|TNIK_ENST00000460047.1_Silent_p.L10L|TNIK_ENST00000538048.1_Silent_p.L10L|TNIK_ENST00000475336.1_Silent_p.L10L|TNIK_ENST00000465393.1_Silent_p.L10L|TNIK_ENST00000369326.5_Silent_p.L10L|TNIK_ENST00000357327.5_Silent_p.L10L|TNIK_ENST00000341852.6_Silent_p.L10L|TNIK_ENST00000284483.8_Silent_p.L10L NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 10 actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ATTTCATCCAGGCTTCGAGCC 0.537000 10 7 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876099 53876099 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:53876099G>T ENST00000267079.2 - 13 2419 c.2194C>A c.(2194-2196)Ctg>Atg p.L732M MAP3K12_ENST00000547488.1_Missense_Mutation_p.L765M|MAP3K12_ENST00000547035.1_Missense_Mutation_p.L765M NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 732 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CTTGATGTCAGCTCTACTTCA 0.488000 9 173 0.000274275 0.000296496 1 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530877 80530877 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:80530877C>A ENST00000295057.3 - 2 724 c.68G>T c.(67-69)tGt>tTt p.C23F CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.C23F|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 23 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 CCCCAGCAGACACAAGACCAC 0.637000 HNSCC(69;0.2) 5 56 0.00116845 0.00124015 1 1 0 KIAA1217 56243 broad.mit.edu 37 10 24833116 24833116 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:24833116G>A ENST00000376451.2 + 14 4226 c.3966G>A c.(3964-3966)agG>agA p.R1322R KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.R1639R|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron Q5T5P2 SKT_HUMAN KIAA1217 1639 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 ACACAGTGAGGAGGCAAGAGC 0.478000 10 74 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913416 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:41266113C>G ENST00000349496.5 + 3 390 c.110C>G c.(109-111)tCt>tGt p.S37C CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 37 S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGAATCCATTCTGGTGCCACT 0.498000 S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 4 41 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101845298 101845298 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:101845298G>A ENST00000360264.3 + 18 2774 c.2754G>A c.(2752-2754)caG>caA p.Q918Q CUX1_ENST00000550008.2_Silent_p.Q851Q|CUX1_ENST00000549414.2_Silent_p.Q885Q|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.Q805Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Silent_p.Q749Q|CUX1_ENST00000292535.7_Silent_p.Q907Q|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 907 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AGACACCACAGAACAGCCCCC 0.652000 7 119 0 0 1 0 0 ABCF1 23 broad.mit.edu 37 6 30552239 30552239 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:30552239C>A ENST00000326195.8 + 14 1399 c.1287C>A c.(1285-1287)gcC>gcA p.A429A ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.A391A NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 429 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 CTGCAGAGGCCAAAGCACGGC 0.622000 5 79 0.000602214 0.000645032 1 1 0 DNM1L 10059 broad.mit.edu 37 12 32858780 32858780 + Nonsense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:32858780C>G ENST00000381000.4 + 3 313 c.272C>G c.(271-273)tCa>tGa p.S91* DNM1L_ENST00000547312.1_Intron|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.S91*|DNM1L_ENST00000266481.6_Intron|DNM1L_ENST00000452533.2_Intron|DNM1L_ENST00000414834.2_Missense_Mutation_p.Q23E|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.S91*|DNM1L_ENST00000548671.1_Intron|DNM1L_ENST00000549701.1_Intron NM_001278463.1|NM_001278465.1 NP_001265392.1|NP_001265394.1 O00429 DNM1L_HUMAN dynamin 1-like 83 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGAAAAACTCAAGACACCTT 0.338000 12 153 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62289005 62289005 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:62289005C>A ENST00000378024.4 - 5 13158 c.12884G>T c.(12883-12885)gGc>gTc p.G4295V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4295 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CACTTTGGGGCCCTTGATGTC 0.507000 89 194 4.493e-44 6.24473e-44 1 1 0 ROM1 6094 broad.mit.edu 37 11 62381902 62381902 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:62381902G>A ENST00000278833.3 + 2 1304 c.763G>A c.(763-765)Gag>Aag p.E255K ROM1_ENST00000534093.1_Missense_Mutation_p.M45I NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 255 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 AGGGTGCCATGAGGTGCTGCT 0.592000 5 68 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22248881 22248881 + Missense_Mutation SNP A A C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:22248881A>C ENST00000324559.8 + 7 714 c.397A>C c.(397-399)Atc>Ctc p.I133L NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 133 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTTTGTCAAGATCCATGCCCC 0.398000 6 134 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145157316 145157316 + Missense_Mutation SNP C C A rs143854197 byFrequency TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:145157316C>A ENST00000558170.2 - 8 2622 c.1438G>T c.(1438-1440)Gct>Tct p.A480S ZEB2_ENST00000409487.3_Missense_Mutation_p.A480S|ZEB2_ENST00000539609.3_Missense_Mutation_p.A456S|ZEB2_ENST00000303660.4_Missense_Mutation_p.A480S NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 480 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) ATTTCTTCAGCCTTGCAGTCC 0.403000 9 70 2.17888e-05 2.45782e-05 1 1 0 ABHD17B 51104 broad.mit.edu 37 9 74485025 74485025 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:74485025C>A ENST00000333421.6 - 3 732 c.621G>T c.(619-621)aaG>aaT p.K207N ABHD17B_ENST00000377041.2_Missense_Mutation_p.K207N NM_001025780.1 NP_001020951.1 abhydrolase domain containing 17B AACAGTAGGTCTTCTTGGTAT 0.383000 19 67 1.56452e-12 2.02954e-12 1 1 0 PSG5 5673 broad.mit.edu 37 19 43683276 43683276 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:43683276T>A ENST00000599812.1 - 3 559 c.464A>T c.(463-465)aAc>aTc p.N155I PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 155 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGGGTTTAAGTTGCTACTGGA 0.512000 11 191 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118516175 118516175 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:118516175G>T ENST00000336338.5 - 44 6079 c.6014C>A c.(6013-6015)tCt>tAt p.S2005Y SPAG17_ENST00000492438.1_5'UTR NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2005 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) GGGCTCATAAGATTCTGCTTC 0.383000 30 53 2.08457e-15 2.75777e-15 1 1 0 TENM1 10178 broad.mit.edu 37 X 123631040 123631040 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:123631040T>A ENST00000422452.2 - 20 3584 c.3521A>T c.(3520-3522)aAt>aTt p.N1174I TENM1_ENST00000371130.3_Missense_Mutation_p.N1174I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTGGTGTCCATTACCCATTAT 0.463000 7 10 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212248726 212248726 + Nonsense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:212248726G>A ENST00000342788.4 - 28 3851 c.3541C>T c.(3541-3543)Caa>Taa p.Q1181* ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q1165*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q1171* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1181 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCCAATGCTTGAAGGTCTCCA 0.428000 TSP Lung(8;0.080) 7 104 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103444963 103444963 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:103444963C>A ENST00000358392.2 - 32 2938 c.2621G>T c.(2620-2622)gGt>gTt p.G874V COL11A1_ENST00000512756.1_Missense_Mutation_p.G746V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G862V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G823V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 862 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCATTGGCACCTGGAAACCC 0.348000 9 28 3.86212e-05 4.2538e-05 1 1 0 ELTD1 64123 broad.mit.edu 37 1 79387416 79387416 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:79387416A>T ENST00000370742.3 - 9 1202 c.1139T>A c.(1138-1140)aTg>aAg p.M380K NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 380 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GCTGCCATTCATGGTATCAGG 0.403000 7 86 0 0 1 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131883344 131883344 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:131883344G>T ENST00000403716.1 + 3 616 c.56G>T c.(55-57)tGg>tTg p.W19L PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.W19L NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2 NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 19 PH. membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) TTGAAGCGCTGGAAGAAGAAC 0.413000 5 49 0.000602214 0.000645032 1 1 0 RUVBL1 8607 broad.mit.edu 37 3 127816235 127816235 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:127816235G>A ENST00000464873.1 - 8 1494 c.744C>T c.(742-744)gaC>gaT p.D248D RUVBL1_ENST00000322623.5_Silent_p.D308D|RUVBL1_ENST00000417360.1_Silent_p.D308D Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 308 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) AGCACTCAATGTCCAGCATGT 0.532000 45 31 0 0 1 0 0 PGA5 5222 broad.mit.edu 37 11 61015906 61015906 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:61015906C>A ENST00000312403.5 + 6 857 c.672C>A c.(670-672)ggC>ggA p.G224G PGA5_ENST00000451616.2_Silent_p.G70G|CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Silent_p.G224G NM_014224.2 NP_055039.1 P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 224 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 ACAAGAGTGGCAGCGTGGTGA 0.507000 73 295 1.45872e-26 2.0095e-26 1 1 0 HECW1 23072 broad.mit.edu 37 7 43540317 43540317 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:43540317C>A ENST00000395891.1 + 20 4062 c.3457C>A c.(3457-3459)Cgg>Agg p.R1153R HECW1_ENST00000453890.1_Silent_p.R1119R NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1153 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCATTACATTCGGACTGAGGG 0.423000 43 67 5.7616e-29 7.98418e-29 1 1 0 FLG 2312 broad.mit.edu 37 1 152281218 152281218 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:152281218C>A ENST00000368799.1 - 3 6179 c.6144G>T c.(6142-6144)gaG>gaT p.E2048D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2048 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) CTGAATGTCCCTCACTGTCAC 0.567000 Ichthyosis 213 508 5.21952e-89 7.29795e-89 1 1 0 GPR174 84636 broad.mit.edu 37 X 78426721 78426721 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:78426721C>A ENST00000276077.1 + 1 253 c.217C>A c.(217-219)Cca>Aca p.P73T NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 73 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 TCTTTCCTTGCCACTGAGGAT 0.403000 HNSCC(63;0.18) 13 7 7.03913e-09 8.47235e-09 1 1 0 WDR33 55339 broad.mit.edu 37 2 128522374 128522374 + Silent SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:128522374T>A ENST00000409658.3 - 6 836 c.654A>T c.(652-654)gtA>gtT p.V218V WDR33_ENST00000393006.1_Intron|WDR33_ENST00000322313.4_Intron NM_001006622.2 NP_001006623.1 Q9C0J8 WDR33_HUMAN WD repeat domain 33 0 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CAATAGGGACTACAGAAAATG 0.413000 31 57 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48711922 48711922 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:48711922G>C ENST00000314191.2 - 73 10199 c.10143C>G c.(10141-10143)ttC>ttG p.F3381L PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F3381L NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3382 FAT. 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) AGAGGTGCTGGAATGCTCTCT 0.557000 Non-homologous end-joining 5 98 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683155 140683155 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:140683155C>A ENST00000239451.4 - 1 457 c.278G>T c.(277-279)aGg>aTg p.R93M NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 93 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) AGCCACTTTCCTGACAAACTG 0.602000 20 99 3.62473e-10 4.50199e-10 1 1 0 PLEKHH2 130271 broad.mit.edu 37 2 43958690 43958690 + Silent SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:43958690G>C ENST00000282406.4 + 19 3002 c.2892G>C c.(2890-2892)ctG>ctC p.L964L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 964 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTCCCCTCTGACAACTCTAC 0.328000 30 38 0 0 1 0 0 SYF2 25949 broad.mit.edu 37 1 25549807 25549807 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:25549807T>C ENST00000236273.4 - 7 707 c.682A>G c.(682-684)Aaa>Gaa p.K228E SYF2_ENST00000354361.3_Missense_Mutation_p.K186E NM_015484.4 NP_056299.1 O95926 SYF2_HUMAN SYF2 pre-mRNA-splicing factor 228 catalytic step 2 spliceosome kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) GCTGTGTATTTCCCATAGAAT 0.358000 27 76 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79803471 79803471 + Missense_Mutation SNP G G A rs3210169 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:79803471G>A ENST00000331483.4 - 9 1547 c.1325C>T c.(1324-1326)aCa>aTa p.T442I P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.T398I NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 442 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GAACTTGAGTGTGGGGAAGCT 0.612000 9 32 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171696 207171696 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:207171696T>C ENST00000374423.3 + 5 2830 c.2444T>C c.(2443-2445)gTt>gCt p.V815A NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 815 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GAAGAAACTGTTGATCTGGAA 0.343000 4 54 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73521483 73521483 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:73521483G>A ENST00000418310.1 + 8 1217 c.1115G>A c.(1114-1116)gGg>gAg p.G372E LIMK1_ENST00000538333.3_Missense_Mutation_p.G308E|LIMK1_ENST00000336180.2_Missense_Mutation_p.G342E P53667 LIMK1_HUMAN LIM domain kinase 1 342 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding p.G342E(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) CTCATCCACGGGGAGGTGCTG 0.677000 6 24 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235973570 235973570 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:235973570C>G ENST00000389794.3 - 5 722 c.548G>C c.(547-549)aGa>aCa p.R183T LYST_ENST00000389793.2_Missense_Mutation_p.R183T|LYST_ENST00000536965.1_Missense_Mutation_p.R183T Q99698 LYST_HUMAN lysosomal trafficking regulator 183 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATGGGGCCTTCTATGCTTATT 0.433000 8 168 0 0 1 0 0 ROM1 6094 broad.mit.edu 37 11 62381857 62381857 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:62381857G>C ENST00000278833.3 + 2 1259 c.718G>C c.(718-720)Gat>Cat p.D240H ROM1_ENST00000534093.1_Silent_p.S30S NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 240 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 CCCCCTGTTCGATCCCCGACA 0.602000 7 83 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 686352 686352 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:686352C>A ENST00000304478.4 + 2 450 c.344C>A c.(343-345)cCa>cAa p.P115Q NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 115 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) AAGTCCAGGCCATTTCGGGAA 0.423000 6 67 2.7689e-08 3.29027e-08 1 1 0 LYPD1 116372 broad.mit.edu 37 2 133426000 133426000 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:133426000G>C ENST00000397463.2 - 2 435 c.163C>G c.(163-165)Cag>Gag p.Q55E LYPD1_ENST00000345008.6_Missense_Mutation_p.Q3E NM_144586.5 NP_653187.3 Q8N2G4 LYPD1_HUMAN LY6/PLAUR domain containing 1 55 UPAR/Ly6. anchored to membrane|plasma membrane lung(2) 2 ACTTCTTTCTGACACATGTCT 0.537000 6 83 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55098804 55098804 + Silent SNP C C A rs35764505 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:55098804C>A ENST00000251377.3 + 9 1576 c.1443C>A c.(1441-1443)gcC>gcA p.A481A LILRA2_ENST00000251376.3_Silent_p.A464A|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.A452A|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.A481A|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) AAGATGCAGCCGGGAGGTGAA 0.567000 9 36 2.17888e-05 2.45782e-05 1 1 0 NT5C1A 84618 broad.mit.edu 37 1 40131834 40131834 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:40131834G>A ENST00000235628.1 - 2 209 c.210C>T c.(208-210)atC>atT p.I70I NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 70 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCTCCGTGTAGATCTGCTGCT 0.592000 4 59 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367127 248367127 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:248367127G>T ENST00000456743.1 + 1 796 c.758G>T c.(757-759)gGa>gTa p.G253V NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 253 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) ATGTACTATGGAGCAGCTTTG 0.488000 87 189 2.93434e-44 4.09055e-44 1 1 0 ZBTB41 360023 broad.mit.edu 37 1 197147608 197147608 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:197147608C>T ENST00000367405.4 - 6 1779 c.1711G>A c.(1711-1713)Gga>Aga p.G571R ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 GGCTTTTCTCCACTGTGGATT 0.308000 10 38 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109438052 109438052 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr13:109438052G>C ENST00000356711.2 + 5 637 c.511G>C c.(511-513)Gaa>Caa p.E171Q MYO16_ENST00000251041.5_Missense_Mutation_p.E171Q|MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000357550.2_Missense_Mutation_p.E171Q NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 171 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AGAAGGGACAGAATCCAGCTC 0.348000 8 36 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133358997 133358997 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:133358997T>C ENST00000204726.3 - 17 3908 c.3350A>G c.(3349-3351)gAg>gGg p.E1117G GOLGA3_ENST00000450791.2_Missense_Mutation_p.E1117G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1117G NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1117 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CTTCCCTTTCTCGTGCTCTAA 0.493000 8 127 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:7577574T>C ENST00000420246.2 - 7 839 c.707A>G c.(706-708)tAc>tGc p.Y236C TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTACACATGTAGTTGTAGTG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 25 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43161568 43161568 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:43161568G>T ENST00000509634.1 + 4 1045 c.589G>T c.(589-591)Gta>Tta p.V197L ZNF131_ENST00000509156.1_Missense_Mutation_p.V197L|ZNF131_ENST00000505606.2_Missense_Mutation_p.V197L|ZNF131_ENST00000399534.1_Missense_Mutation_p.V197L|ZNF131_ENST00000306938.4_Missense_Mutation_p.V197L|ZNF131_ENST00000509931.1_Intron P52739 ZN131_HUMAN zinc finger protein 131 197 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 CAAGCAGTCCGTAAAGTACAT 0.463000 10 52 3.07112e-06 3.55003e-06 1 1 0 MUC17 140453 broad.mit.edu 37 7 100679320 100679320 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:100679320C>T ENST00000306151.4 + 3 4687 c.4623C>T c.(4621-4623)acC>acT p.T1541T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1541 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGCTGTCACCAGCACACCTG 0.483000 28 355 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44079131 44079131 + Silent SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:44079131G>C ENST00000262887.5 - 2 622 c.75C>G c.(73-75)ctC>ctG p.L25L L34079.4_ENST00000600242.1_RNA|XRCC1_ENST00000543982.1_Intron|L34079.2_ENST00000594374.1_Intron P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 25 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) TGTCTGCCTTGAGAAGATTTT 0.532000 Other BER factors 5 38 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131502280 131502280 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:131502280C>T ENST00000291900.2 - 13 2378 c.1972G>A c.(1972-1974)Gag>Aag p.E658K NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 658 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 TCCTCCACCTCCTCACGCTGG 0.612000 5 59 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104905202 104905202 + Splice_Site SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:104905202C>A ENST00000533400.1 - 2 43 c.e2-1 CASP1_ENST00000593315.1_Splice_Site|CASP1_ENST00000531166.1_Splice_Site|CASP1_ENST00000415981.2_Splice_Site|CASP1_ENST00000598974.1_Splice_Site|CASP1_ENST00000353247.5_Splice_Site|CASP1_ENST00000528974.1_Intron|CASP1_ENST00000436863.3_Splice_Site|CASP1_ENST00000534497.1_Splice_Site|CASP1_ENST00000446369.1_Splice_Site|CASP1_ENST00000594519.1_Splice_Site|CASP1_ENST00000527979.1_5'UTR|CASP1_ENST00000393136.4_Splice_Site|CASP1_ENST00000525825.1_Splice_Site|CASP1_ENST00000526568.1_Splice_Site NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AGGACCTTGTCTGTTTAGAGC 0.393000 19 272 1.64113e-05 1.86022e-05 1 1 0 MYO3A 53904 broad.mit.edu 37 10 26465772 26465772 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:26465772C>T ENST00000265944.5 + 31 4602 c.4436C>T c.(4435-4437)tCa>tTa p.S1479L MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1479 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAGTGCCTCTCAGGTAAAAAT 0.393000 5 55 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100996353 100996353 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:100996353G>T ENST00000335290.6 + 7 1836 c.1610G>T c.(1609-1611)gGa>gTa p.G537V WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000554998.1_Missense_Mutation_p.G537V|WDR25_ENST00000542471.2_Missense_Mutation_p.G280V|WDR25_ENST00000402312.3_Missense_Mutation_p.G537V NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 537 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) TGCTCCTGGGGAGGGGACATG 0.612000 5 51 0.00116845 0.00124015 1 1 0 SOS2 6655 broad.mit.edu 37 14 50626701 50626701 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:50626701C>G ENST00000216373.5 - 10 1574 c.1300G>C c.(1300-1302)Gat>Cat p.D434H SOS2_ENST00000543680.1_Missense_Mutation_p.D401H|SOS2_ENST00000555794.1_5'UTR NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 434 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TGTCCAATATCTTTGCCTTCC 0.363000 15 187 0 0 1 0 0 KLHL32 114792 broad.mit.edu 37 6 97489402 97489402 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:97489402C>T ENST00000369261.4 + 4 602 c.239C>T c.(238-240)gCt>gTt p.A80V KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000536676.1_Intron|KLHL32_ENST00000544166.1_5'UTR NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 80 BTB. breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GAAAGTGGAGCTGATGAGGTT 0.443000 12 46 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997168 82997168 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:82997168C>T ENST00000307792.3 - 17 2529 c.2062G>A c.(2062-2064)Gag>Aag p.E688K SEMA3E_ENST00000427262.1_Missense_Mutation_p.E628K NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 688 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGCCTGTCCTCCTCATCGTCC 0.483000 6 93 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56414745 56414745 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:56414745G>C ENST00000348428.3 + 17 2404 c.2146G>C c.(2146-2148)Gac>Cac p.D716H MALT1_ENST00000345724.3_Missense_Mutation_p.D705H|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 1 716 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 TGCTAAATTAGACATGCATCG 0.438000 T BIRC3 MALT 14 107 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29642559 29642559 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:29642559G>T ENST00000318184.5 - 6 695 c.696C>A c.(694-696)gcC>gcA p.A232A NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 232 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GTACCTGGCAGGCGTCCATTC 0.493000 3 10 0.150653 0.151301 1 1 0 GPR160 26996 broad.mit.edu 37 3 169801827 169801827 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:169801827G>T ENST00000355897.5 + 4 675 c.67G>T c.(67-69)Gat>Tat p.D23Y NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 23 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) CCAGCCCCTAGATGTTAACTA 0.338000 6 99 2.0095e-06 2.33442e-06 1 1 0 CNRIP1 25927 broad.mit.edu 37 2 68544395 68544395 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:68544395G>A ENST00000263655.3 - 2 829 c.224C>T c.(223-225)tCt>tTt p.S75F CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.S75F|CNRIP1_ENST00000409559.3_Missense_Mutation_p.S75F NM_015463.2 NP_056278.1 Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 75 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 AGGCTCTTTAGACTTCAGTTC 0.488000 5 84 0 0 1 0 0 SERINC1 57515 broad.mit.edu 37 6 122777625 122777625 + Splice_Site SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:122777625C>G ENST00000368454.1 - 5 701 c.e5+1 SERINC1_ENST00000339697.3_Splice_Site Q9NRX5 SERC1_HUMAN serine incorporator 1 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) TAAAAACTTACCCATTGTGCA 0.348000 6 45 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065006 55065006 + RNA SNP A A C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:55065006A>C ENST00000526016.1 - 0 419 NR_038174.2 TGAGATTTTCACAAGCTTTTT 0.393000 10 41 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152331 72152331 + Silent SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:72152331G>C ENST00000555818.1 + 10 3705 c.3357G>C c.(3355-3357)ggG>ggC p.G1119G SIPA1L1_ENST00000381232.3_Silent_p.G1119G|SIPA1L1_ENST00000537413.1_Silent_p.G594G|SIPA1L1_ENST00000358550.2_Silent_p.G1119G NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1119 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CCAGTGACGGGCGCCCACTAG 0.532000 4 40 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169435115 169435115 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:169435115T>A ENST00000236137.5 - 6 1702 c.1466A>T c.(1465-1467)cAa>cTa p.Q489L SLC19A2_ENST00000367804.3_Missense_Mutation_p.Q288L|SLC19A2_ENST00000367802.3_Missense_Mutation_p.Q451L NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 489 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) AGAACTTGATTGTGGATCTTC 0.403000 20 79 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71477983 71477983 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:71477983G>C ENST00000370924.4 - 2 1312 c.1082C>G c.(1081-1083)gCa>gGa p.A361G PTGER3_ENST00000306666.5_Intron|PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Missense_Mutation_p.A361G NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GACAGCATTTGCTACCTGGCA 0.413000 7 58 0 0 1 0 0 FEM1C 56929 broad.mit.edu 37 5 114860108 114860108 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:114860108G>A ENST00000274457.3 - 3 2312 c.1751C>T c.(1750-1752)aCc>aTc p.T584I NM_020177.2 NP_064562.1 Q96JP0 FEM1C_HUMAN fem-1 homolog c (C. elegans) 584 cytoplasm breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 18 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) CTGCAATGTGGTATGATTTAT 0.378000 5 68 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38450672 38450672 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:38450672G>C ENST00000209728.4 + 7 1471 c.1000G>C c.(1000-1002)Gaa>Caa p.E334Q NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 334 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 TCAAGCTAGAGAAAAATGTAA 0.388000 8 75 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106810990 106810990 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:106810990C>T ENST00000407775.2 + 7 1028 c.778C>T c.(778-780)Cgg>Tgg p.R260W RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R128W|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R128W|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000509144.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 260 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) CATCTGGTATCGGAGTGAGCG 0.483000 5 50 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777520 43777520 + Silent SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:43777520T>C ENST00000389420.3 - 31 4637 c.4638A>G c.(4636-4638)tcA>tcG p.S1546S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1546 TSP type-1 13. 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) TTCTCTCACATGATGTTGAAC 0.343000 29 44 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57442099 57442099 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:57442099G>T ENST00000442789.2 - 3 296 c.9C>A c.(7-9)ctC>ctA p.L3L MYO1A_ENST00000300119.3_Silent_p.L3L NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 3 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AACCTTCCAGGAGAGGCATGT 0.532000 8 34 5.18039e-06 5.94409e-06 1 1 0 CCL16 6360 broad.mit.edu 37 17 34305249 34305249 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:34305249C>T ENST00000293275.3 - 2 202 c.127G>A c.(127-129)Gag>Aag p.E43K NM_004590.2 NP_004581.1 O15467 CCL16_HUMAN chemokine (C-C motif) ligand 16 43 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity p.E43K(1) endometrium(1)|lung(2) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AACACTTTCTCATAATACTTC 0.502000 14 196 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627108 108627108 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:108627108G>A ENST00000264047.2 + 9 1810 c.1534G>A c.(1534-1536)Gat>Aat p.D512N SLC5A7_ENST00000409059.1_Missense_Mutation_p.D512N|SLC5A7_ENST00000540517.1_Missense_Mutation_p.D407N NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 512 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) ACCTAAATTAGATGTATTTGA 0.328000 4 53 0 0 1 0 0 CSN2 1447 broad.mit.edu 37 4 70823091 70823091 + Silent SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:70823091A>T ENST00000353151.3 - 5 587 c.576T>A c.(574-576)ccT>ccA p.P192P NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 192 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GGGCTTGAACAGGCACAGCTC 0.557000 15 38 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414349 121414349 + Missense_Mutation SNP T T G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:121414349T>G ENST00000393667.3 - 13 5131 c.5021A>C c.(5020-5022)cAa>cCa p.Q1674P GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q1669P NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1669 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CTCCATTTCTTGCTCAGCTTC 0.433000 17 187 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116930952 116930952 + Missense_Mutation SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:116930952A>G ENST00000355044.3 + 8 1376 c.1250A>G c.(1249-1251)cAt>cGt p.H417R ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.I388V NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 417 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CATTCAGCACATATTATGGAG 0.368000 41 84 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4448613 4448613 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:4448613C>G ENST00000254718.4 - 16 2407 c.2101G>C c.(2101-2103)Gag>Cag p.E701Q MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E701Q Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 701 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 CGGTCATTCTCATCCTCACTG 0.672000 3 34 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40939347 40939347 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:40939347G>T ENST00000246914.5 + 7 1549 c.1528G>T c.(1528-1530)Gta>Tta p.V510L WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 510 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGCCCGTGCAGTACGTGAACG 0.592000 13 49 9.31168e-06 1.06062e-05 1 1 0 HIST1H2AJ 8331 broad.mit.edu 37 6 27782162 27782162 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:27782162C>G ENST00000333151.3 - 1 445 c.357G>C c.(355-357)aaG>aaC p.K119N NM_021066.2 NP_066544.1 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 119 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 11 TCTCAGTTTTCTTTGGCAGCA 0.493000 13 185 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231379989 231379989 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:231379989G>A ENST00000264052.5 + 25 2629 c.2274G>A c.(2272-2274)gaG>gaA p.E758E SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 758 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTAAAGGGGAGAAAAAAAAGA 0.418000 14 66 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170044658 170044658 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:170044658G>A ENST00000263816.3 - 49 9435 c.9150C>T c.(9148-9150)gtC>gtT p.V3050V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3050 LDL-receptor class A 24. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCTCATCACAGACGAAGGTTT 0.512000 8 85 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34042925 34042925 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:34042925A>T ENST00000373381.4 - 49 7723 c.7547T>A c.(7546-7548)cTg>cAg p.L2516Q NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2518 Sushi 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTCGCTCCACAGGTGGTAGCC 0.617000 10 71 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143344 56143344 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:56143344T>A ENST00000302270.1 + 1 245 c.245T>A c.(244-246)cTt>cAt p.L82H NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CCCAAAATGCTTGGGAATTTC 0.388000 57 164 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170112 58170112 + Nonsense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:58170112G>C ENST00000309403.2 - 1 770 c.771C>G c.(769-771)taC>taG p.Y257* NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGGGTTGTAAGTACATGAAGA 0.458000 25 77 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66190200 66190200 + Silent SNP A A C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:66190200A>C ENST00000311034.2 + 4 662 c.486A>C c.(484-486)gcA>gcC p.A162A NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 162 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GCCAGAGTGCAGGCAACAAAC 0.552000 7 75 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102134115 102134115 + Missense_Mutation SNP A A G rs141469398 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:102134115A>G ENST00000369138.1 + 6 1328 c.838A>G c.(838-840)Aga>Gga p.R280G GRIK2_ENST00000421544.1_Missense_Mutation_p.R280G|GRIK2_ENST00000413795.1_Missense_Mutation_p.R280G|GRIK2_ENST00000369137.3_Missense_Mutation_p.R280G|GRIK2_ENST00000318991.6_Missense_Mutation_p.R280G|GRIK2_ENST00000369134.4_Missense_Mutation_p.R231G|GRIK2_ENST00000358361.3_Missense_Mutation_p.R280G NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 280 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GACAGGGTTCAGAATATTAAA 0.428000 8 45 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039777 248039777 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:248039777G>T ENST00000366481.3 + 6 1495 c.1447G>T c.(1447-1449)Gat>Tat p.D483Y OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 483 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGATGTAAGAGATGATCATCT 0.433000 14 43 4.3838e-07 5.14381e-07 1 1 0 TMPRSS7 344805 broad.mit.edu 37 3 111795984 111795984 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:111795984C>T ENST00000452346.2 + 16 2220 c.2217C>T c.(2215-2217)caC>caT p.H739H TMPRSS7_ENST00000419127.1_Silent_p.H613H Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 739 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGCGAAGACACGAAGCAGGTG 0.507000 9 62 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21997461 21997461 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:21997461G>T ENST00000261200.4 - 26 3270 c.3271C>A c.(3271-3273)Ctg>Atg p.L1091M RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.L1091M|ABCC9_ENST00000345162.2_Missense_Mutation_p.L1055M NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1091 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGAGAATCAGTCCCAGGGGT 0.363000 16 122 1.00905e-13 1.32739e-13 1 1 0 FBXL17 64839 broad.mit.edu 37 5 107684233 107684233 + Splice_Site SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:107684233T>C ENST00000542267.1 - 4 1781 c.e4-2 FBXL17_ENST00000496714.1_Splice_Site|FBXL17_ENST00000359660.5_Splice_Site NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) TGAGCCCAGCTGTAAACAAAC 0.358000 7 37 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20717839 20717839 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:20717839C>T ENST00000380249.1 + 5 468 c.104C>T c.(103-105)tCa>tTa p.S35L FOCAD_ENST00000338382.6_Missense_Mutation_p.S35L NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 35 integral to membrane binding aatggtttttcAGAAAAGATT 0.343000 3 26 0 0 1 0 0 MMP14 4323 broad.mit.edu 37 14 23315054 23315054 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:23315054G>C ENST00000311852.6 + 10 1816 c.1555G>C c.(1555-1557)Gag>Cag p.E519Q MMP14_ENST00000548162.1_Intron NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 519 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGAGGGGACTGAGGAGGAGAC 0.657000 4 65 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48690480 48690480 + Silent SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:48690480C>G ENST00000544264.1 - 10 5869 c.5589G>C c.(5587-5589)cgG>cgC p.R1863R CELSR3_ENST00000164024.4_Silent_p.R1863R Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1863 Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CATGGTGGCCCCGCCGGCCAC 0.622000 33 35 0 0 1 0 0 FETUB 26998 broad.mit.edu 37 3 186358298 186358298 + Nonsense_Mutation SNP G G T rs148037844 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:186358298G>T ENST00000265029.3 + 1 150 c.49G>T c.(49-51)Gga>Tga p.G17* FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382134.3_Nonsense_Mutation_p.G17*|FETUB_ENST00000382136.3_Nonsense_Mutation_p.G17*|FETUB_ENST00000450521.1_Nonsense_Mutation_p.G17*|FETUB_ENST00000488561.1_3'UTR NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 17 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CCTGTGCTGCGGAGCAATGTC 0.617000 18 238 1.56452e-12 2.02954e-12 1 1 0 ACTC1 70 broad.mit.edu 37 15 35082648 35082648 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr15:35082648C>G ENST00000290378.4 - 7 1754 c.1099G>C c.(1099-1101)Gca>Cca p.A367P RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 367 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GATGGGCCTGCCTCATCGTAC 0.512000 19 59 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240085567 240085567 + Silent SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:240085567A>G ENST00000345617.3 - 6 1334 c.543T>C c.(541-543)aaT>aaC p.N181N HDAC4_ENST00000541256.1_Silent_p.N150N NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 181 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCTTCTTTTTATTGAGGACAA 0.567000 19 48 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366854 248366854 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:248366854C>A ENST00000456743.1 + 1 523 c.485C>A c.(484-486)gCa>gAa p.A162E NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 162 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) GATGTTGTAGCAACATTTTCC 0.443000 15 296 3.27435e-08 3.8712e-08 1 1 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044247 90044247 + RNA SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:90044247C>A ENST00000462693.1 + 0 198 ATGGAAACACCTACTTGAGTT 0.537000 44 102 1.06522e-23 1.46311e-23 1 1 0 MAGED1 9500 broad.mit.edu 37 X 51640673 51640673 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:51640673C>T ENST00000375695.2 + 7 1838 c.1685C>T c.(1684-1686)aCt>aTt p.T562I MAGED1_ENST00000326587.7_Missense_Mutation_p.T506I|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.T506I|MAGED1_ENST00000375772.3_Missense_Mutation_p.T506I NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 506 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CGTGAATACACTGATGTTTAT 0.507000 Multiple Myeloma(10;0.10) 4 46 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219868828 219868828 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:219868828C>G ENST00000341552.5 - 33 5484 c.5401G>C c.(5401-5403)Gag>Cag p.E1801Q AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1801Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1801Q NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1801 Glu-rich. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) tcatccctctcctcctccttc 0.567000 11 100 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64953739 64953739 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:64953739C>T ENST00000527323.1 + 5 929 c.689C>T c.(688-690)gCt>gTt p.A230V CAPN1_ENST00000533129.1_Missense_Mutation_p.A230V|CAPN1_ENST00000533820.1_Missense_Mutation_p.A230V|CAPN1_ENST00000279247.6_Missense_Mutation_p.A230V|CAPN1_ENST00000524773.1_Missense_Mutation_p.A230V P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 230 Calpain catalytic. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) TTGCGCAAGGCTCCCAGTGAC 0.622000 7 11 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281208 281208 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:281208G>C ENST00000534750.1 + 4 1679 c.1474G>C c.(1474-1476)Gag>Cag p.E492Q NLRP6_ENST00000312165.5_Missense_Mutation_p.E492Q NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 492 NACHT. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GCTGGAGACAGAGGTCACCTA 0.622000 5 109 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68506893 68506893 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:68506893G>A ENST00000322244.4 - 18 1589 c.1530C>T c.(1528-1530)ttC>ttT p.F510F NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 510 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 GACGAAATAGGAACTGTCTAT 0.279000 12 135 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320937 79320937 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:79320937C>T ENST00000428286.1 - 8 6376 c.5176G>A c.(5176-5178)Gag>Aag p.E1726K PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2085K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2085 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCAGGATTCTCACCATCTGCT 0.488000 11 169 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136699372 136699372 + Silent SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:136699372C>G ENST00000329582.4 + 2 402 c.153C>G c.(151-153)ctC>ctG p.L51L IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_Silent_p.L4L|IL20RB-AS1_ENST00000462176.2_RNA NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 51 Fibronectin type-III 1. integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 TGAAGCATCTCTTGATGTGGA 0.488000 8 149 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183635269 183635269 + Nonsense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:183635269G>T ENST00000511685.1 + 13 2374 c.2251G>T c.(2251-2253)Gga>Tga p.G751* TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Nonsense_Mutation_p.G751* teneurin transmembrane protein 3 CAACAGCAATGGAAGATGTAC 0.473000 11 47 0.00010058 0.000110002 1 1 0 PROSER1 80209 broad.mit.edu 37 13 39600484 39600484 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr13:39600484G>C ENST00000352251.3 - 6 1243 c.410C>G c.(409-411)tCt>tGt p.S137C PROSER1_ENST00000350125.3_Missense_Mutation_p.S115C NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 137 TCCACAAGAAGATATCATAGC 0.388000 6 42 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10799240 10799240 + Nonsense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:10799240G>T ENST00000449870.1 + 19 2766 c.2449G>T c.(2449-2451)Gga>Tga p.G817* ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000588657.1_Nonsense_Mutation_p.G817*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.G813*|ILF3_ENST00000590261.1_Nonsense_Mutation_p.G813* NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 813 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CAGTGGTAGTGGAGGCCGAAG 0.662000 14 79 1.67942e-08 2.00585e-08 1 1 0 TTN 7273 broad.mit.edu 37 2 179598581 179598581 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:179598581C>T ENST00000589042.1 - 53 15759 c.15535G>A c.(15535-15537)Gca>Aca p.A5179T TTN_ENST00000591111.1_Missense_Mutation_p.A4862T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A3935T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4862 Ig-like 32. 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) CCTCCTAGTGCAATCAAATCA 0.423000 8 75 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43161564 43161564 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:43161564G>T ENST00000509634.1 + 4 1041 c.585G>T c.(583-585)caG>caT p.Q195H ZNF131_ENST00000509156.1_Missense_Mutation_p.Q195H|ZNF131_ENST00000505606.2_Missense_Mutation_p.Q195H|ZNF131_ENST00000399534.1_Missense_Mutation_p.Q195H|ZNF131_ENST00000306938.4_Missense_Mutation_p.Q195H|ZNF131_ENST00000509931.1_Intron P52739 ZN131_HUMAN zinc finger protein 131 195 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 CTGCCAAGCAGTCCGTAAAGT 0.463000 11 57 5.50884e-06 6.29004e-06 1 1 0 OR10A6 390093 broad.mit.edu 37 11 7950125 7950125 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:7950125C>A ENST00000309838.2 - 1 84 c.85G>T c.(85-87)Gtg>Ttg p.V29L NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGAAAGCCACAAAGAGCTGC 0.443000 5 86 0.000602214 0.000645032 1 1 0 NFAT5 10725 broad.mit.edu 37 16 69703977 69703977 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr16:69703977G>A ENST00000349945.1 + 9 2737 c.1185G>A c.(1183-1185)ctG>ctA p.L395L NFAT5_ENST00000566899.1_Silent_p.L395L|NFAT5_ENST00000432919.1_Silent_p.L489L|NFAT5_ENST00000567239.1_Silent_p.L489L|NFAT5_ENST00000354436.2_Silent_p.L471L|NFAT5_ENST00000393742.2_Silent_p.L395L NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 471 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGAACTTTCTGAAAGGAACTA 0.358000 8 48 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19967376 19967376 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr22:19967376T>C ENST00000263207.3 - 6 1577 c.1286A>G c.(1285-1287)tAt>tGt p.Y429C ARVCF_ENST00000401994.1_Missense_Mutation_p.Y366C|ARVCF_ENST00000406259.1_Missense_Mutation_p.Y429C|ARVCF_ENST00000344269.3_Missense_Mutation_p.Y366C|ARVCF_ENST00000406522.1_Missense_Mutation_p.Y366C NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 429 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) GTCGCGGCCATAGGAGAGGTT 0.711000 3 7 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197147607 197147607 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:197147607C>A ENST00000367405.4 - 6 1780 c.1712G>T c.(1711-1713)gGa>gTa p.G571V ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 AGGCTTTTCTCCACTGTGGAT 0.308000 11 38 2.80697e-09 3.40482e-09 1 1 0 FAM129B 64855 broad.mit.edu 37 9 130289575 130289575 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:130289575G>A ENST00000373312.3 - 3 426 c.213C>T c.(211-213)ttC>ttT p.F71F FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Silent_p.F58F NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 71 PH. protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GGTTCCCCGAGAAGACGATGC 0.627000 3 33 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939071 2939071 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:2939071C>A ENST00000378404.2 + 1 1026 c.821C>A c.(820-822)cCc>cAc p.P274H NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 274 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) AGCCAGAGCCCCGGGCTCTCG 0.632000 21 59 1.40151e-16 1.87537e-16 1 1 0 ANKRD11 29123 broad.mit.edu 37 16 89348306 89348306 + Missense_Mutation SNP C C T rs145653946 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr16:89348306C>T ENST00000301030.4 - 9 5104 c.4644G>A c.(4642-4644)atG>atA p.M1548I ANKRD11_ENST00000378330.2_Missense_Mutation_p.M1548I NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1548 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCCCGTTGCTCATCTTCACTG 0.572000 4 56 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517453 158517453 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:158517453G>T ENST00000302617.3 - 1 442 c.443C>A c.(442-444)aCa>aAa p.T148K NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TCCAGCCAGTGTGCCACAGAG 0.473000 13 51 1.61879e-10 2.03767e-10 1 1 0 FAM120A 23196 broad.mit.edu 37 9 96233642 96233642 + Missense_Mutation SNP C C A rs148997614 byFrequency TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:96233642C>A ENST00000277165.6 + 2 888 c.694C>A c.(694-696)Cgt>Agt p.R232S FAM120A_ENST00000375389.3_Missense_Mutation_p.R232S|FAM120A_ENST00000340893.4_Missense_Mutation_p.R232S|FAM120A_ENST00000333936.5_Missense_Mutation_p.R232S NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 232 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GAATCCAAATCGTTTTCCTAT 0.423000 6 57 0.0215528 0.0219763 1 1 0 ZP4 57829 broad.mit.edu 37 1 238053768 238053768 + Silent SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:238053768T>A ENST00000366570.4 - 1 326 c.168A>T c.(166-168)atA>atT p.I56I RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 56 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TACCCCAAGCTATTAGTACAG 0.478000 4 54 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791168 50791168 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:50791168G>A ENST00000263046.4 + 3 323 c.157G>A c.(157-159)Ggc>Agc p.G53S TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.G44S Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 44 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) CTCCCAGCTGGGCTCGGTGTC 0.677000 3 15 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525925 176525925 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:176525925C>G ENST00000367662.3 + 2 1631 c.467C>G c.(466-468)tCt>tGt p.S156C PAPPA2_ENST00000367661.3_Missense_Mutation_p.S156C NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 156 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCCAAGGAGTCTCTAGGTGAG 0.547000 7 146 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5433526 5433526 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:5433526T>C ENST00000341928.2 - 8 1194 c.854A>G c.(853-855)cAt>cGt p.H285R EPB41L3_ENST00000400111.3_Missense_Mutation_p.H285R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H285R|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H285R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H285R NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 285 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TTCCAAGAAATGCATCTCTGC 0.353000 3 28 0 0 1 0 0 WWC2 80014 broad.mit.edu 37 4 184210674 184210674 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:184210674G>A ENST00000403733.3 + 21 3469 c.3270G>A c.(3268-3270)ctG>ctA p.L1090L WWC2_ENST00000504005.1_Silent_p.L772L|WWC2_ENST00000508747.1_Silent_p.L218L|WWC2_ENST00000448232.2_Silent_p.L1114L|WWC2_ENST00000513834.1_Silent_p.L1041L NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 1090 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TGCAGGCGCTGAGGGACTTGC 0.577000 10 33 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197889242 197889242 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:197889242C>T ENST00000367390.3 + 3 315 c.288C>T c.(286-288)ctC>ctT p.L96L LHX9_ENST00000561173.1_Silent_p.L111L|LHX9_ENST00000367391.1_Silent_p.L96L|LHX9_ENST00000367387.4_Silent_p.L105L|LHX9_ENST00000337020.2_Silent_p.L105L NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 105 LIM zinc-binding 1. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 AGCTGGCCCTCGAGTCCGAGC 0.562000 22 254 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137782639 137782639 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:137782639G>A ENST00000242375.3 + 4 448 c.406G>A c.(406-408)Gag>Aag p.E136K AKR1D1_ENST00000411726.2_Missense_Mutation_p.E136K|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.E136K NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 136 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 CCCTAGAGATGAGAATGGCAA 0.284000 6 95 0 0 1 0 0 HAUS3 79441 broad.mit.edu 37 4 2242367 2242367 + Nonsense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:2242367C>A ENST00000243706.4 - 2 536 c.307G>T c.(307-309)Gag>Tag p.E103* POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Nonsense_Mutation_p.E103*|HAUS3_ENST00000443786.2_Nonsense_Mutation_p.E103* NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 103 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 ACCTCATCCTCTAATTTCTCC 0.388000 8 77 0.00307968 0.00323921 1 1 0 AGRN 375790 broad.mit.edu 37 1 957815 957815 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:957815C>G ENST00000379370.2 + 2 486 c.436C>G c.(436-438)Ctg>Gtg p.L146V NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 146 NtA. 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) CCTGCGGAACCTGGAGGAGGT 0.632000 25 51 0 0 1 0 0 HAUS3 79441 broad.mit.edu 37 4 2241950 2241950 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:2241950C>G ENST00000243706.4 - 2 953 c.724G>C c.(724-726)Gat>Cat p.D242H POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.D242H|HAUS3_ENST00000443786.2_Missense_Mutation_p.D242H NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 242 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTCTGTATATCTAAAAGTTGA 0.368000 4 27 0 0 1 0 0 C19orf40 91442 broad.mit.edu 37 19 33464391 33464391 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:33464391T>C ENST00000588258.1 + 3 276 c.166T>C c.(166-168)Tgc>Cgc p.C56R C19orf40_ENST00000590281.1_Missense_Mutation_p.C56R|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_5'UTR NM_152266.3 NP_689479.1 Q9BTP7 FAP24_HUMAN chromosome 19 open reading frame 40 56 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Esophageal squamous(110;0.137) GTCGAACAGATGCTGCATTCT 0.413000 Direct reversal of damage 26 109 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45811307 45811307 + Silent SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr21:45811307G>C ENST00000397928.1 + 11 2038 c.1593G>C c.(1591-1593)ctG>ctC p.L531L TRPM2_ENST00000300481.9_Silent_p.L531L|TRPM2_ENST00000397932.2_Silent_p.L531L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.L531L NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 531 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCTCCTGCCTGTTCCACAGCA 0.642000 9 68 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94487322 94487322 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:94487322C>A ENST00000375708.3 - 9 1652 c.1454G>T c.(1453-1455)gGg>gTg p.G485V ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G345V NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 485 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GTAGACTTTCCCAAACCGGTC 0.587000 34 240 7.11191e-15 9.38209e-15 1 1 0 OR8U1 219417 broad.mit.edu 37 11 56143601 56143601 + Missense_Mutation SNP T T G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:56143601T>G ENST00000302270.1 + 1 502 c.502T>G c.(502-504)Tat>Gat p.Y168D NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CCGCCTCTCCTATTGCCACTC 0.453000 23 280 0 0 1 0 0 RMI1 80010 broad.mit.edu 37 9 86616726 86616726 + Silent SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:86616726A>T ENST00000325875.3 + 3 1157 c.825A>T c.(823-825)tcA>tcT p.S275S NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 275 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 GTAGTTCCTCAAATACCATTC 0.388000 46 90 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31090721 31090721 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr16:31090721G>A ENST00000394979.2 + 1 3499 c.3076G>A c.(3076-3078)Gag>Aag p.E1026K ZNF646_ENST00000300850.5_Missense_Mutation_p.E1026K O15015 ZN646_HUMAN zinc finger protein 646 1026 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CAAGTCTCAAGAGGGAGCAGG 0.587000 14 135 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91465055 91465055 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:91465055G>A ENST00000416354.1 + 2 76 c.4G>A c.(4-6)Gaa>Aaa p.E2K KIF20B_ENST00000371728.3_Missense_Mutation_p.E2K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E2K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E2K Q96Q89 KI20B_HUMAN kinesin family member 20B 2 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TTGCAGAATGGAATCTAATTT 0.388000 18 108 0 0 1 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404333 61404333 + RNA SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:61404333C>A ENST00000496593.1 + 0 937 NR_002775.2 AACGCCATGACGCGCAAGGCC 0.582000 10 28 0.00621372 0.00644846 1 1 0 FAM161B 145483 broad.mit.edu 37 14 74409272 74409272 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:74409272G>A ENST00000286544.3 - 4 1459 c.1261C>T c.(1261-1263)Ctg>Ttg p.L421L FAM161B_ENST00000534936.1_Silent_p.L358L NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 TTAGTGTGCAGAAACCCAAGC 0.557000 7 149 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452203 26452203 + Missense_Mutation SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:26452203A>G ENST00000244519.2 + 11 1562 c.1319A>G c.(1318-1320)aAt>aGt p.N440S BTN3A3_ENST00000339789.4_Missense_Mutation_p.N398S|BTN3A3_ENST00000361232.3_Missense_Mutation_p.N391S NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 440 B30.2/SPRY. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 ACTGATGGGAATAAGTATCGG 0.498000 7 92 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090737 238090737 + RNA SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:238090737C>A ENST00000450451.1 + 0 2243 NR_027247.2 TACAGCTTCACCACCTCGGCC 0.617000 4 29 0.00024832 0.000269061 1 1 0 BBC3 27113 broad.mit.edu 37 19 47725046 47725046 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:47725046C>T ENST00000449228.1 - 4 861 c.698G>A c.(697-699)cGc>cAc p.R233H BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000300880.7_Missense_Mutation_p.R73H|BBC3_ENST00000439096.2_3'UTR NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) GTCCACCGGGCGGGTGCAGGC 0.652000 5 28 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220406155 220406155 + Nonsense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:220406155C>A ENST00000358951.2 - 2 282 c.166G>T c.(166-168)Gaa>Taa p.E56* NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 56 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) TCTTGTGGTTCATTTTCTTCC 0.358000 21 60 6.44725e-10 7.94424e-10 1 1 0 ADH1A 124 broad.mit.edu 37 4 100208759 100208759 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:100208759C>G ENST00000209668.2 - 2 195 c.82G>C c.(82-84)Gag>Cag p.E28Q ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 28 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) GGTGCAACCTCCACCTCCTCA 0.383000 6 52 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553937 140553937 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:140553937C>A ENST00000231137.3 + 1 1695 c.1521C>A c.(1519-1521)aaC>aaA p.N507K NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 507 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTCCATCAACGCGGACAACG 0.697000 29 139 3.99451e-17 5.37589e-17 1 1 0 IRF3 3661 broad.mit.edu 37 19 50165692 50165692 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:50165692C>T ENST00000597198.1 - 5 972 c.591G>A c.(589-591)gtG>gtA p.V197V IRF3_ENST00000600911.1_Silent_p.V197V|IRF3_ENST00000600022.1_Silent_p.V51V|IRF3_ENST00000377139.3_Silent_p.V197V|IRF3_ENST00000309877.7_Silent_p.V197V|IRF3_ENST00000596765.1_Silent_p.V51V|IRF3_ENST00000598808.1_Silent_p.V51V|IRF3_ENST00000599223.1_Silent_p.V197V|IRF3_ENST00000593922.1_Silent_p.V51V|IRF3_ENST00000377135.4_Silent_p.V197V|IRF3_ENST00000596822.1_Silent_p.V51V|IRF3_ENST00000599144.1_Silent_p.V51V|IRF3_ENST00000601291.1_Silent_p.V197V Q14653 IRF3_HUMAN interferon regulatory factor 3 197 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CTTCCCCCGGCACCAACAGCC 0.667000 6 10 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76603141 76603141 + Missense_Mutation SNP T T G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:76603141T>G ENST00000287239.4 + 3 1015 c.526T>G c.(526-528)Tat>Gat p.Y176D KAT6B_ENST00000372711.1_Missense_Mutation_p.Y176D|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y176D|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y176D|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y176D NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 176 H15. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CAGGGTCAATTATGGGAGCTT 0.557000 7 56 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26725264 26725264 + Missense_Mutation SNP A A C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:26725264A>C ENST00000272371.2 - 7 740 c.614T>G c.(613-615)cTt>cGt p.L205R OTOF_ENST00000403946.3_Missense_Mutation_p.L205R NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 205 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGATGGTCAAGGTCTTCCAT 0.527000 4 15 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25785871 25785871 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:25785871C>T ENST00000399878.3 - 14 2381 c.2259G>A c.(2257-2259)ctG>ctA p.L753L SEL1L3_ENST00000264868.5_Silent_p.L718L|SEL1L3_ENST00000502949.1_Silent_p.L600L NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 753 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CTTTCTTCATCAGCTCTAAGG 0.433000 14 140 0 0 1 0 0 DEPTOR 64798 broad.mit.edu 37 8 120942174 120942174 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:120942174G>A ENST00000286234.5 + 3 551 c.421G>A c.(421-423)Gaa>Aaa p.E141K DEPTOR_ENST00000523492.1_Intron NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 141 intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 GAGGCTATATGAAAAGTATGT 0.418000 11 110 0 0 1 0 0 CRHBP 1393 broad.mit.edu 37 5 76251547 76251547 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:76251547G>A ENST00000274368.4 + 4 825 c.403G>A c.(403-405)Gag>Aag p.E135K CRHBP_ENST00000506501.1_Missense_Mutation_p.E135K NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 135 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) CCCCTCAGCTGAGCGGTACAT 0.468000 6 41 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43262304 43262304 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:43262304G>C ENST00000404209.4 - 3 655 c.559C>G c.(559-561)Ctc>Gtc p.L187V PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.L65V|PSG8_ENST00000306511.4_Missense_Mutation_p.L187V NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 187 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GACATAGGGAGGCTCTGACCA 0.507000 79 275 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 124235184 124235184 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:124235184G>C ENST00000274008.3 + 16 2716 c.2647G>C c.(2647-2649)Gat>Cat p.D883H NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 883 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TTTTTATGAAGATTATCAAGA 0.348000 4 37 0 0 1 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90077804 90077804 + RNA SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:90077804C>A ENST00000390270.2 + 0 125 GCTTCTCTTCCTCCTGCTACT 0.542000 29 58 3.57733e-08 4.21872e-08 1 1 0 BDKRB2 624 broad.mit.edu 37 14 96707445 96707445 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:96707445G>T ENST00000542454.2 + 3 3787 c.699G>T c.(697-699)aaG>aaT p.K233N RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.K260N|BDKRB2_ENST00000306005.3_Missense_Mutation_p.K260N|BDKRB2_ENST00000539359.1_Missense_Mutation_p.K233N P30411 BKRB2_HUMAN bradykinin receptor B2 260 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) AGAAGTTCAAGGAGATCCAGA 0.552000 11 36 0.000978159 0.00104292 1 1 0 DOCK9 23348 broad.mit.edu 37 13 99462425 99462425 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr13:99462425C>G ENST00000376460.1 - 47 5331 c.5251G>C c.(5251-5253)Gag>Cag p.E1751Q DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.E1752Q NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1752 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCTCATACCTCAAAATCCCTC 0.483000 23 89 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45540513 45540513 + Splice_Site SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr21:45540513T>C ENST00000291576.7 + 12 1466 c.1337_splice c.e12-1 p.Y447_splice NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 447 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TCTCTGCAGGTACCGAAACTT 0.642000 5 43 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237778090 237778090 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:237778090C>G ENST00000366574.2 + 37 5979 c.5662C>G c.(5662-5664)Cgg>Ggg p.R1888G RYR2_ENST00000542537.1_Missense_Mutation_p.R1872G|RYR2_ENST00000360064.6_Missense_Mutation_p.R1886G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1888 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGGGGCAAGCGGCCCAAGGA 0.517000 23 47 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17780381 17780381 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:17780381C>A ENST00000428389.2 - 6 638 c.639G>T c.(637-639)acG>acT p.T213T UNC13A_ENST00000550896.1_Silent_p.T125T|UNC13A_ENST00000519716.2_Silent_p.T125T|UNC13A_ENST00000552293.1_Silent_p.T125T|UNC13A_ENST00000551649.1_Silent_p.T125T|UNC13A_ENST00000252773.7_Silent_p.T125T Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 125 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GCTCAAAGCGCGTGTCCAGGA 0.612000 6 16 0.0215528 0.0219763 1 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140711919 140711919 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:140711919C>T ENST00000517417.1 + 1 1668 c.1668C>T c.(1666-1668)aaC>aaT p.N556N PCDHGA1_ENST00000378105.3_Silent_p.N556N NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCAGAACGACAACGCGC 0.642000 11 209 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51701242 51701242 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:51701242G>A ENST00000371117.3 - 51 8408 c.8133C>T c.(8131-8133)gtC>gtT p.V2711V PKHD1_ENST00000340994.4_Silent_p.V2711V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2711 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCCGGAGAATGACTTGAACTT 0.408000 9 82 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66063351 66063351 + Splice_Site SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:66063351C>A ENST00000503581.1 - 9 1996 c.1459_splice c.e9+1 p.G487_splice EYS_ENST00000342421.5_Splice_Site_p.G487_splice|EYS_ENST00000370616.2_Splice_Site_p.G487_splice|EYS_ENST00000370621.3_Splice_Site_p.G487_splice|EYS_ENST00000370618.3_Splice_Site_p.G487_splice|EYS_ENST00000393380.2_Splice_Site_p.G487_splice NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 487 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AATTTGTTACCTGCAAATCCC 0.333000 13 47 9.05144e-12 1.16769e-11 1 1 0 NKAIN1 79570 broad.mit.edu 37 1 31655426 31655426 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:31655426G>A ENST00000373736.2 - 5 489 c.483C>T c.(481-483)ttC>ttT p.F161F NKAIN1_ENST00000263693.1_Silent_p.F117F|NKAIN1_ENST00000398657.2_Silent_p.F90F NM_024522.2 NP_078798.2 Q4KMZ8 NKAI1_HUMAN Na+/K+ transporting ATPase interacting 1 161 integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148) AGGCGAACACGAAGCCGAACA 0.632000 6 49 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132528737 132528737 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:132528737G>T ENST00000333577.4 + 36 6683 c.6574G>T c.(6574-6576)Gca>Tca p.A2192S EP400_ENST00000332482.4_Missense_Mutation_p.A2119S|EP400_ENST00000389562.2_Missense_Mutation_p.A2155S|EP400_ENST00000330386.6_Missense_Mutation_p.A2075S|EP400_ENST00000389561.2_Missense_Mutation_p.A2156S Q96L91 EP400_HUMAN E1A binding protein p400 2192 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGTGATGACTGCAGTGAGGGC 0.632000 10 35 2.80697e-09 3.40482e-09 1 1 0 CHRDL1 91851 broad.mit.edu 37 X 109924723 109924723 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:109924723C>G ENST00000218054.4 - 10 1333 c.1137G>C c.(1135-1137)tgG>tgC p.W379C CHRDL1_ENST00000372045.1_Missense_Mutation_p.W373C|CHRDL1_ENST00000482160.1_Missense_Mutation_p.W301C|CHRDL1_ENST00000394797.4_Missense_Mutation_p.W379C|CHRDL1_ENST00000372042.1_Missense_Mutation_p.W381C|CHRDL1_ENST00000434224.1_Missense_Mutation_p.W300C|CHRDL1_ENST00000444321.2_Missense_Mutation_p.W380C NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 373 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 TTCGAATAGTCCAAACGTGGA 0.448000 4 61 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73069253 73069253 + RNA SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:73069253G>C ENST00000429829.1 - 0 3335 NR_001564.2 TCAATGCAAAGAGTTTTAGGT 0.428000 3 33 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735047 140735047 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:140735047G>A ENST00000571252.1 + 1 280 c.280G>A c.(280-282)Gag>Aag p.E94K PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACAGGGAGGAGCTCTGCGA 0.542000 5 67 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5041455 5041455 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:5041455G>C ENST00000574788.1 + 21 3195 c.965G>C c.(964-966)cGt>cCt p.R322P USP6_ENST00000332776.4_Missense_Mutation_p.R322P|USP6_ENST00000250066.6_Missense_Mutation_p.R322P|USP6_ENST00000304328.5_5'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 322 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTGTGGGCACGTCTGCGGAAC 0.552000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 40 61 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349328 30349328 + Missense_Mutation SNP A A G rs140109047 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:30349328A>G ENST00000327564.7 + 1 1305 c.1244A>G c.(1243-1245)gAt>gGt p.D415G LRRC37B_ENST00000584368.1_Missense_Mutation_p.D400G|LRRC37B_ENST00000341671.7_Missense_Mutation_p.D388G|LRRC37B_ENST00000543378.2_Missense_Mutation_p.D306G|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000394713.3_Missense_Mutation_p.D388G Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 388 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AGGACTACAGATCCTCCTCCA 0.552000 44 136 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42036448 42036448 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:42036448G>T ENST00000220809.4 - 13 1753 c.1497C>A c.(1495-1497)ggC>ggA p.G499G PLAT_ENST00000519510.1_Silent_p.G436G|PLAT_ENST00000429710.2_Silent_p.G373G|PLAT_ENST00000429089.2_Silent_p.G499G|PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000524009.1_Silent_p.G410G|PLAT_ENST00000352041.3_Silent_p.G453G NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 499 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CCTGGGGCCCGCCGCTCCGAG 0.592000 38 68 1.96642e-18 2.66179e-18 1 1 0 KLHL4 56062 broad.mit.edu 37 X 86869563 86869563 + Nonsense_Mutation SNP T T G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:86869563T>G ENST00000373119.4 + 3 862 c.717T>G c.(715-717)taT>taG p.Y239* KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Y239* NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 239 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TGGTGCAGTATGCTTACACAG 0.348000 6 22 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30872148 30872148 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:30872148G>A ENST00000251071.5 - 13 2910 c.2160C>T c.(2158-2160)ccC>ccT p.P720P CAPRIN2_ENST00000417045.1_Silent_p.P720P|CAPRIN2_ENST00000308433.5_Silent_p.P387P|CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000395805.2_Silent_p.P685P NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 720 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GCTTGCCTGGGGGAATTGCTG 0.493000 14 105 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47814742 47814742 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:47814742C>T ENST00000289672.2 - 57 8599 c.8549G>A c.(8548-8550)tGa>tAa p.*2850* NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 0 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCAGGCTCCTCAGAAGTCCTT 0.443000 5 104 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157815885 157815885 + Silent SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:157815885G>C ENST00000490689.2 - 5 2037 c.504C>G c.(502-504)acC>acG p.T168T SHOX2_ENST00000441443.2_Silent_p.T168T|SHOX2_ENST00000483851.2_Silent_p.T297T|SHOX2_ENST00000425436.3_Silent_p.T309T|SHOX2_ENST00000389589.4_Silent_p.T333T O60902 SHOX2_HUMAN short stature homeobox 2 309 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) AGTTCTTGCTGGTGGTCTTGG 0.667000 16 228 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73521484 73521484 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:73521484G>T ENST00000418310.1 + 8 1218 c.1116G>T c.(1114-1116)ggG>ggT p.G372G LIMK1_ENST00000538333.3_Silent_p.G308G|LIMK1_ENST00000336180.2_Silent_p.G342G P53667 LIMK1_HUMAN LIM domain kinase 1 342 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) TCATCCACGGGGAGGTGCTGG 0.672000 6 25 0.000157383 0.000171324 1 1 0 GAS2L3 283431 broad.mit.edu 37 12 101017696 101017696 + Silent SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:101017696T>C ENST00000537247.1 + 10 1755 c.801T>C c.(799-801)tcT>tcC p.S267S GAS2L3_ENST00000539410.1_Silent_p.S371S|GAS2L3_ENST00000266754.5_Silent_p.S371S|GAS2L3_ENST00000547754.1_Silent_p.S371S Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 371 GAR. cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CAGTCCGTTCTAAATTGCCAA 0.453000 44 95 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211455575 211455575 + Silent SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:211455575T>C ENST00000233072.5 + 9 1088 c.892T>C c.(892-894)Tta>Cta p.L298L CPS1_ENST00000430249.2_Silent_p.L304L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 298 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TACAGGAAACTTAATAACAGG 0.388000 7 57 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22893242 22893242 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr22:22893242G>A ENST00000543184.1 - 3 1153 c.291C>T c.(289-291)ttC>ttT p.F97F PRAME_ENST00000424204.2_Silent_p.F81F|PRAME_ENST00000398743.2_Silent_p.F97F|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000406503.1_Silent_p.F97F|PRAME_ENST00000402697.1_Silent_p.F97F|PRAME_ENST00000539862.1_Silent_p.F81F|PRAME_ENST00000405655.3_Silent_p.F97F|PRAME_ENST00000398741.1_Silent_p.F97F NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 97 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GCACAGCTTTGAAGGTCTCCA 0.592000 17 72 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113616159 113616159 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:113616159C>T ENST00000361127.4 + 1 329 c.131C>T c.(130-132)cCc>cTc p.P44L NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 44 LRRNT. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GGTCTCTGCCCCGCGCCCTGC 0.657000 OREG0013684 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 114 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216420325 216420325 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:216420325G>T ENST00000366943.2 - 13 2797 c.2411C>A c.(2410-2412)cCt>cAt p.P804H USH2A_ENST00000366942.3_Missense_Mutation_p.P804H|USH2A_ENST00000307340.3_Missense_Mutation_p.P804H O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 804 Laminin EGF-like 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GACAGTCCCAGGGAGGGATCC 0.483000 HNSCC(13;0.011) 16 97 3.52763e-06 4.06766e-06 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11038778 11038778 + RNA SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr21:11038778G>C ENST00000470054.1 - 0 1425 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTAATAGCTGGTTTACCCATG 0.398000 21 282 0 0 1 0 0 HS2ST1 9653 broad.mit.edu 37 1 87569262 87569262 + Silent SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:87569262C>G ENST00000370550.5 + 6 1197 c.834C>G c.(832-834)ctC>ctG p.L278L HS2ST1_ENST00000356813.4_Silent_p.L252L|RP5-1052I5.2_ENST00000370548.2_Silent_p.L252L NM_012262.3 NP_036394.1 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 278 Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5) 9 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) CTACTGAACTCTATCGCACAG 0.363000 9 95 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10243662 10243662 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:10243662C>A ENST00000418404.3 - 16 2114 c.1951G>T c.(1951-1953)Gtg>Ttg p.V651L RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.V651L|MYH13_ENST00000252172.4_Missense_Mutation_p.V651L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 651 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACGGCCGACACGGTCTGGAAA 0.507000 18 30 1.01871e-10 1.29277e-10 1 1 0 PDZD2 23037 broad.mit.edu 37 5 31983647 31983647 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:31983647G>C ENST00000438447.1 + 3 1251 c.863G>C c.(862-864)aGa>aCa p.R288T PDZD2_ENST00000282493.3_Missense_Mutation_p.R288T O15018 PDZD2_HUMAN PDZ domain containing 2 288 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GAAGTGGACAGAGGGACAGAG 0.507000 7 138 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106110430 106110430 + RNA SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:106110430A>G ENST00000390545.2 - 0 305 ACTCGACACAACATTTGCGCT 0.612000 28 90 0 0 1 0 0 ADAT2 134637 broad.mit.edu 37 6 143753700 143753700 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:143753700C>G ENST00000606514.1 - 4 844 c.260G>C c.(259-261)tGt>tCt p.C87S ADAT2_ENST00000237283.8_Missense_Mutation_p.C134S Q7Z6V5 ADAT2_HUMAN adenosine deaminase, tRNA-specific 2 134 tRNA processing hydrolase activity|zinc ion binding endometrium(2)|large_intestine(3)|lung(3) 8 OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115) AACAGAGCCACAACCACCAAA 0.383000 7 53 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47778106 47778106 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:47778106C>T ENST00000398545.4 - 4 639 c.522G>A c.(520-522)aaG>aaA p.K174K NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 174 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) CACACACCTTCTTCTGATGGA 0.468000 80 165 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66327497 66327497 + RNA SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:66327497C>T ENST00000504911.1 - 0 220 ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA CATCTGCGATCAGTGGGACAA 0.682000 3 6 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81053410 81053410 + Splice_Site SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:81053410G>A ENST00000334512.5 + 12 1802 c.1230_splice c.e12+1 p.E410_splice ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 410 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) ACCCTGGAGAGGTGAGTGCAG 0.632000 5 70 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655861 12655861 + Missense_Mutation SNP C C T rs28730822 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:12655861C>T ENST00000425538.1 + 10 1456 c.1256C>T c.(1255-1257)aCg>aTg p.T419M MYOCD_ENST00000395988.1_Missense_Mutation_p.T323M|MYOCD_ENST00000343344.4_Missense_Mutation_p.T419M NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 419 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGGGATATAACGACTGTCACT 0.567000 35 42 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357005 37357005 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:37357005C>T ENST00000217420.1 + 2 1564 c.1301C>T c.(1300-1302)aCg>aTg p.T434M NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 434 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGGGGGCTGACGCTGCGCTGC 0.682000 8 29 0 0 1 0 0 CMTR2 55783 broad.mit.edu 37 16 71318329 71318329 + Nonsense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr16:71318329C>A ENST00000338099.5 - 3 1831 c.1495G>T c.(1495-1497)Gga>Tga p.G499* FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.G499* Q8IYT2 FTSJ1_HUMAN 499 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGTTTCTTTCCCTCCAAAATA 0.363000 32 40 1.06801e-11 1.374e-11 1 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73185191 73185191 + Splice_Site SNP A A C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:73185191A>C ENST00000286657.4 - 9 1246 c.1208_splice c.e9-1 p.L404_splice NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 404 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCATTCCCAACCTAGAACAC 0.453000 6 30 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99139474 99139474 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:99139474C>A ENST00000370992.4 - 14 1698 c.1587G>T c.(1585-1587)gcG>gcT p.A529A RRP12_ENST00000536831.1_Silent_p.A247A|RRP12_ENST00000315563.6_Silent_p.A429A|RRP12_ENST00000414986.1_Silent_p.A468A NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 529 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GGTCAAGAGCCGCCGTGTGGG 0.592000 19 43 4.35082e-09 5.26381e-09 1 1 0 WDR60 55112 broad.mit.edu 37 7 158715070 158715070 + Nonsense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:158715070C>T ENST00000407559.3 + 16 2082 c.1924C>T c.(1924-1926)Cga>Tga p.R642* NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 642 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CTCCCTAGATCGAAAAGTATC 0.443000 4 44 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88761447 88761447 + RNA SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:88761447G>C ENST00000444431.1 + 0 2577 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATATTCCTTGATGGCAGCAC 0.373000 9 144 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30135403 30135403 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:30135403A>T ENST00000331968.5 - 3 644 c.415T>A c.(415-417)Ttt>Att p.F139I PRKD1_ENST00000415220.2_Missense_Mutation_p.F139I NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 139 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) AAGTCTTCAAAGGTGGCGGAA 0.418000 8 113 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92911683 92911683 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:92911683T>A ENST00000532405.1 + 8 906 c.680T>A c.(679-681)gTg>gAg p.V227E SLC24A4_ENST00000298877.1_Missense_Mutation_p.V210E|SLC24A4_ENST00000531433.1_Missense_Mutation_p.V227E|SLC24A4_ENST00000393265.2_Missense_Mutation_p.V163E|SLC24A4_ENST00000351924.5_Missense_Mutation_p.V210E Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 227 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GAACAAATTGTGTGGTAAGTT 0.348000 16 56 0 0 1 0 0 HLTF 6596 broad.mit.edu 37 3 148757822 148757822 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:148757822G>A ENST00000310053.5 - 21 2691 c.2498C>T c.(2497-2499)tCa>tTa p.S833L HLTF_ENST00000494055.1_Missense_Mutation_p.S833L|HLTF_ENST00000392912.2_Missense_Mutation_p.S833L|HLTF_ENST00000465259.1_Missense_Mutation_p.S832L NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 833 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CTTTACCTTTGAACTGGATGT 0.313000 4 31 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94526680 94526680 + Silent SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:94526680C>A ENST00000330836.5 - 5 1808 c.1677G>T c.(1675-1677)acG>acT p.T559T DDX24_ENST00000555054.1_Silent_p.T516T|DDX24_ENST00000544005.1_Silent_p.T309T NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 559 RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GCGTCTCCACCGTGGCCTCAT 0.473000 24 74 6.44725e-10 7.94424e-10 1 1 0 OSBPL1A 114876 broad.mit.edu 37 18 21761174 21761174 + Missense_Mutation SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:21761174A>G ENST00000319481.3 - 19 1953 c.1747T>C c.(1747-1749)Tac>Cac p.Y583H OSBPL1A_ENST00000357041.4_Missense_Mutation_p.Y201H|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.Y70H NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 583 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TGCTCCATGTATTCAGTTAGG 0.428000 3 28 0 0 1 0 0 FBXL3 26224 broad.mit.edu 37 13 77589595 77589595 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr13:77589595C>T ENST00000355619.5 - 4 916 c.592G>A c.(592-594)Gat>Aat p.D198N FBXL3_ENST00000477982.1_5'UTR NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 198 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTGAGTGTATCACTATTGTTG 0.403000 12 88 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44577669 44577669 + Missense_Mutation SNP C C T rs142441368 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:44577669C>T ENST00000322927.2 - 28 4052 c.3952G>A c.(3952-3954)Gag>Aag p.E1318K ZNF335_ENST00000426788.1_Missense_Mutation_p.E1163K NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1318 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GGCACTGTCTCGTCTGTACCA 0.612000 4 63 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237513 30237513 + Silent SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:30237513A>G ENST00000378988.4 + 2 917 c.816A>G c.(814-816)caA>caG p.Q272Q NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 272 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 CACGCTTTCAATTCCTGTGGG 0.527000 14 18 0 0 1 0 0 LPCAT3 10162 broad.mit.edu 37 12 7087520 7087520 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:7087520G>A ENST00000261407.4 - 9 1108 c.1023C>T c.(1021-1023)acC>acT p.T341T LPCAT3_ENST00000535021.1_Intron|U47924.19_ENST00000564245.1_RNA NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 341 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 CCCAGGCGTTGGTGTTGATGT 0.577000 8 152 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9006759 9006759 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:9006759G>A ENST00000299698.7 + 21 2806 c.2626G>A c.(2626-2628)Gac>Aac p.D876N A2ML1_ENST00000539547.1_Missense_Mutation_p.D385N NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 720 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 AAAGATTCTGGACAGCAATGA 0.473000 8 41 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53086232 53086232 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:53086232C>A ENST00000341809.3 - 7 1428 c.1400G>T c.(1399-1401)cGc>cTc p.R467L KRT77_ENST00000537195.1_Missense_Mutation_p.R234L NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 467 Coil 2.|Rod. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CAGCAGCTGGCGGTAGGTGGC 0.632000 20 36 1.96292e-10 2.46421e-10 1 1 0 MAML3 55534 broad.mit.edu 37 4 140810658 140810658 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:140810658C>A ENST00000509479.2 - 2 2788 c.1932G>T c.(1930-1932)caG>caT p.Q644H MAML3_ENST00000327122.5_Missense_Mutation_p.Q488H|MAML3_ENST00000398940.1_Missense_Mutation_p.Q172H NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 640 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgttgct 0.587000 20 81 2.37509e-13 3.11564e-13 1 1 0 FRRS1L 23732 broad.mit.edu 37 9 111899750 111899750 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:111899750C>G ENST00000374581.3 - 5 1019 c.1020G>C c.(1018-1020)ttG>ttC p.L340F NM_014334.2 NP_055149.2 Q9P0K9 CI004_HUMAN ferric-chelate reductase 1-like 340 integral to membrane GGGTTCCCATCAATAGGTAGA 0.363000 5 81 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179414242 179414242 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:179414242G>T ENST00000367618.3 + 16 2088 c.1701G>T c.(1699-1701)gaG>gaT p.E567D AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.E567D NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 567 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AAAGTTTGGAGGGGGAGATGC 0.353000 30 65 2.12542e-12 2.7495e-12 1 1 0 SLC9A2 6549 broad.mit.edu 37 2 103274377 103274377 + Nonsense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:103274377C>G ENST00000233969.2 + 2 786 c.644C>G c.(643-645)tCa>tGa p.S215* NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 215 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 AGCTTAATCTCAGCTGTCGAT 0.498000 19 223 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112455759 112455759 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:112455759C>T ENST00000230538.7 - 26 3864 c.3467G>A c.(3466-3468)aGg>aAg p.R1156K LAMA4_ENST00000522006.1_Missense_Mutation_p.R1149K|LAMA4_ENST00000389463.4_Missense_Mutation_p.R1149K|LAMA4_ENST00000424408.2_Missense_Mutation_p.R1149K NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1156 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTTGACATGCCTTCTGTCAAC 0.333000 16 46 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477153 42477153 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:42477153C>T ENST00000434000.1 - 9 2340 c.2058G>A c.(2056-2058)ggG>ggA p.G686G GPATCH8_ENST00000591680.1_Silent_p.G764G Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 764 Lys-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGCCACTGCTCCCCTCTTCAG 0.582000 5 72 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104458418 104458418 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:104458418G>C ENST00000229330.4 + 1 184 c.80G>C c.(79-81)cGa>cCa p.R27P NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 27 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CACGGACACCGAGCGGTGGCC 0.677000 3 17 0 0 1 0 0 PAG1 55824 broad.mit.edu 37 8 81899639 81899639 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:81899639G>A ENST00000220597.4 - 6 950 c.240C>T c.(238-240)agC>agT p.S80S NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 80 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) TCTGCTCACTGCTGGCAGGAG 0.468000 8 71 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149357510 149357510 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:149357510G>C ENST00000355292.3 - 2 865 c.503C>G c.(502-504)tCt>tGt p.S168C NR3C2_ENST00000344721.4_Missense_Mutation_p.S168C|NR3C2_ENST00000358102.3_Missense_Mutation_p.S168C|NR3C2_ENST00000512865.1_Missense_Mutation_p.S168C|NR3C2_ENST00000342437.4_Missense_Mutation_p.S168C|NR3C2_ENST00000511528.1_Missense_Mutation_p.S168C P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 168 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GGAGCTCCCAGAGTCAGACAT 0.478000 14 117 0 0 1 0 0 FADS6 283985 broad.mit.edu 37 17 72888695 72888695 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:72888695G>T ENST00000310226.6 - 2 326 c.312C>A c.(310-312)acC>acA p.T104T NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 110 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GTTTGGACTCGGTGAGGGCCC 0.592000 5 18 1.23904e-05 1.40786e-05 1 1 0 B4GALNT2 124872 broad.mit.edu 37 17 47246954 47246954 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:47246954C>G ENST00000300404.2 + 11 1624 c.1565C>G c.(1564-1566)tCt>tGt p.S522C B4GALNT2_ENST00000393354.2_Missense_Mutation_p.S462C|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.S436C NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 522 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GGTCACCAGTCTCGGTCTCCA 0.547000 9 82 0 0 1 0 0 KPNB1 3837 broad.mit.edu 37 17 45734268 45734268 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:45734268G>A ENST00000290158.4 + 4 732 c.325G>A c.(325-327)Gcc>Acc p.A109T KPNB1_ENST00000535458.2_5'UTR|KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000540627.1_5'UTR NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 109 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 GCCTAGTTCTGCCTCACAGTG 0.448000 19 40 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150648799 150648799 + Missense_Mutation SNP G G A rs121912504 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:150648799G>A ENST00000392968.2 - 5 2514 c.1394C>T c.(1393-1395)gCg>gTg p.A465V KCNH2_ENST00000430723.3_Missense_Mutation_p.A561V|KCNH2_ENST00000330883.4_Missense_Mutation_p.A221V|KCNH2_ENST00000262186.5_Missense_Mutation_p.A561V Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 561 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TAGCCAGTGCGCGATGAGCGC 0.642000 18 36 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127708341 127708341 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:127708341G>T ENST00000368679.4 - 22 2901 c.2592C>A c.(2590-2592)gcC>gcA p.A864A NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 864 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GAGTTGTTCTGGCCAGAGGAT 0.592000 10 17 2.74318e-10 3.42531e-10 1 1 0 VAV3 10451 broad.mit.edu 37 1 108160255 108160255 + Splice_Site SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:108160255C>A ENST00000370056.4 - 21 2189 c.e21-1 VAV3_ENST00000544443.1_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000415432.2_Splice_Site|VAV3_ENST00000343258.4_Splice_Site NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) AATTTCTGCCCTAAGGAAAAA 0.373000 8 56 5.68852e-11 7.27819e-11 1 1 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606004 1606004 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:1606004G>A ENST00000382171.2 - 1 509 c.476C>T c.(475-477)tCc>tTc p.S159F KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 159 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCACCCACAGGAGCCACAGCC 0.652000 14 141 0 0 1 0 0 TUBB6 84617 broad.mit.edu 37 18 12325389 12325389 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:12325389T>A ENST00000317702.5 + 4 835 c.601T>A c.(601-603)Tgc>Agc p.C201S TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 201 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) CGAGACCTACTGCATCGACAA 0.602000 8 160 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4552560 4552560 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:4552560G>A ENST00000586582.1 - 10 1173 c.863C>T c.(862-864)gCg>gTg p.A288V SEMA6B_ENST00000586965.1_Missense_Mutation_p.A288V|SEMA6B_ENST00000301293.3_Missense_Mutation_p.A288V NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 288 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GTTGAGCCGCGCCTTCAGGAA 0.672000 4 17 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19959935 19959935 + Splice_Site SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr22:19959935C>G ENST00000263207.3 - 17 2933 c.e17-1 ARVCF_ENST00000401994.1_Splice_Site|ARVCF_ENST00000406259.1_Splice_Site|ARVCF_ENST00000344269.3_Splice_Site|ARVCF_ENST00000406522.1_Splice_Site NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) TTCTCGCCCTCTGCAAGGCAG 0.647000 4 40 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51858172 51858172 + Nonsense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:51858172G>T ENST00000580990.2 - 3 267 c.47C>A c.(46-48)tCg>tAg p.S16* STARD6_ENST00000307844.3_Silent_p.R109R|STARD6_ENST00000581310.1_Silent_p.R109R P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 218 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) ATAAAGTCTCGAGGGGAAATG 0.378000 24 55 6.44725e-10 7.94424e-10 1 1 0 TTN 7273 broad.mit.edu 37 2 179614618 179614618 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:179614618C>T ENST00000360870.5 - 46 12731 c.12509G>A c.(12508-12510)tGt>tAt p.C4170Y TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3514 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) CCCTTCTCTACACCTGGCATG 0.378000 22 53 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44664506 44664506 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:44664506G>A ENST00000454036.1 + 4 515 c.439G>A c.(439-441)Gtg>Atg p.V147M SLC12A5_ENST00000372315.1_Missense_Mutation_p.V124M|SLC12A5_ENST00000243964.3_Missense_Mutation_p.V124M|SLC12A5_ENST00000539566.1_Missense_Mutation_p.V124M NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 147 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CACCTGGGTGGTGGGCATTGC 0.622000 20 35 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687584 158687584 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:158687584C>T ENST00000368146.1 - 1 369 c.370G>A c.(370-372)Gaa>Aaa p.E124K OR6K3_ENST00000368145.1_Missense_Mutation_p.E108K Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TCTGAGTTTTCAAGTGAGTGG 0.498000 11 211 0 0 1 0 0 GJA4 2701 broad.mit.edu 37 1 35259992 35259992 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:35259992G>T ENST00000342280.4 + 2 266 c.178G>T c.(178-180)Ggc>Tgc p.G60C NM_002060.2 NP_002051.2 P35212 CXA4_HUMAN gap junction protein, alpha 4, 37kDa 60 cell-cell junction assembly integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GGCCCAGCCAGGCTGCACCAA 0.602000 11 68 3.07112e-06 3.55003e-06 1 1 0 ZAK 51776 broad.mit.edu 37 2 174086214 174086214 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:174086214G>C ENST00000338983.3 + 12 1519 c.1324G>C c.(1324-1326)Gat>Cat p.D442H MLTK_ENST00000375213.3_Intron|MLTK_ENST00000539448.1_Missense_Mutation_p.D442H|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Missense_Mutation_p.D341H|MLK7-AS1_ENST00000422703.1_RNA NM_133646.2 NP_598407.1 tgatgatgatgatgacggtga 0.388000 4 36 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3808613 3808613 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:3808613G>A ENST00000225538.3 - 2 460 c.186C>T c.(184-186)atC>atT p.I62I NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 62 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) AGACACTGCTGATGAGGCCGC 0.632000 4 73 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4967199 4967199 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrY:4967199G>T ENST00000333703.4 + 5 2060 c.1547G>T c.(1546-1548)aGt>aTt p.S516I PCDH11Y_ENST00000362095.5_Missense_Mutation_p.S527I|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S527I NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 527 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GATGCAGACAGTGGGCCTAAT 0.468000 3 24 0.004672 0.00487014 1 1 0 TUBA1C 84790 broad.mit.edu 37 12 49666960 49666960 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:49666960G>A ENST00000301072.6 + 4 1575 c.1300G>A c.(1300-1302)Gag>Aag p.E434K RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.E504K NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 434 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 GGATTATGAGGAGGTTGGAGC 0.498000 14 131 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2433468 2433468 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:2433468C>T ENST00000452833.1 - 16 2385 c.2377G>A c.(2377-2379)Gag>Aag p.E793K TRPM5_ENST00000528453.1_Missense_Mutation_p.E791K|TRPM5_ENST00000533060.1_Missense_Mutation_p.E791K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E791K Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 791 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TGTGTGTCCTCGTCTGTGAAG 0.572000 9 131 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68018141 68018141 + Splice_Site SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:68018141G>T ENST00000262210.5 + 8 1082 c.1049_splice c.e8-1 p.A351_splice CSPP1_ENST00000412460.1_Splice_Site_p.A57_splice NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 386 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TTTCTTTAGTGCTCCAGACAA 0.348000 16 23 1.5739e-10 1.98651e-10 1 1 0 TCEB3 6924 broad.mit.edu 37 1 24078182 24078182 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:24078182G>C ENST00000418390.2 + 4 1436 c.1165G>C c.(1165-1167)Gag>Cag p.E389Q NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 389 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CAAGGTAAAAGAGAAGGGTTC 0.458000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 103 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182821 140182821 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:140182821C>T ENST00000522353.2 + 1 2039 c.2039C>T c.(2038-2040)tCc>tTc p.S680F PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S680F|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 p.S680C(2) 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) AAGGCCTCGTCCCAGGCGTCC 0.647000 20 73 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900587 51900587 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:51900587G>T ENST00000268919.4 + 1 349 c.193G>T c.(193-195)Gtc>Ttc p.V65F NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 65 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGAGAAAGCAGTCAAAAAAGG 0.557000 39 115 2.05212e-20 2.80216e-20 1 1 0 RIN3 79890 broad.mit.edu 37 14 93118855 93118855 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:93118855G>T ENST00000216487.7 + 6 1620 c.1461G>T c.(1459-1461)gcG>gcT p.A487A RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 487 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GCACACAGGCGATGGCCTTGG 0.637000 15 59 2.32078e-09 2.82978e-09 1 1 0 DMWD 1762 broad.mit.edu 37 19 46287938 46287938 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:46287938T>A ENST00000270223.6 - 4 1983 c.1938A>T c.(1936-1938)gaA>gaT p.E646D AC011530.4_ENST00000593999.1_Intron|DMWD_ENST00000377735.3_Intron NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 646 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) gccaacttccttcccctgtct 0.572000 18 72 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113694842 113694842 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:113694842C>A ENST00000297405.5 - 16 2750 c.2506G>T c.(2506-2508)Gat>Tat p.D836Y CSMD3_ENST00000343508.3_Missense_Mutation_p.D796Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D836Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D732Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 836 Sushi 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTCCAGGATCAGGGCATTCA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 135 3.59834e-05 4.01056e-05 1 1 0 BRD1 23774 broad.mit.edu 37 22 50217642 50217642 + Silent SNP G G A rs138837185 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr22:50217642G>A ENST00000216267.8 - 1 810 c.324C>T c.(322-324)caC>caT p.H108H BRD1_ENST00000404760.1_Silent_p.H108H|BRD1_ENST00000404034.1_Silent_p.H108H|BRD1_ENST00000457780.2_Silent_p.H108H NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 108 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CCGGCGTGCCGTGGGCGCTGG 0.607000 9 64 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193385012 193385012 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:193385012G>T ENST00000361510.2 + 29 3160 c.2926G>T c.(2926-2928)Ggt>Tgt p.G976C OPA1_ENST00000392438.3_Missense_Mutation_p.G921C|OPA1_ENST00000361715.2_Missense_Mutation_p.G940C|OPA1_ENST00000361908.3_Missense_Mutation_p.G958C|OPA1_ENST00000361150.2_Missense_Mutation_p.G922C|OPA1_ENST00000361828.2_Missense_Mutation_p.G939C NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 921 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TGCTGAAGATGGTGAGAAGAA 0.378000 34 39 6.70999e-13 8.75297e-13 1 1 0 GAPDH 2597 broad.mit.edu 37 12 6646140 6646140 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:6646140G>T ENST00000229239.5 + 5 957 c.291G>T c.(289-291)gaG>gaT p.E97D GAPDH_ENST00000396858.1_Missense_Mutation_p.E55D|GAPDH_ENST00000396859.1_Missense_Mutation_p.E97D|GAPDH_ENST00000396861.1_Missense_Mutation_p.E97D|GAPDH_ENST00000396856.1_Missense_Mutation_p.E22D NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 97 Interaction with WARS. gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) ACGTCGTGGAGTCCACTGGCG 0.632000 14 124 1.5842e-08 1.89698e-08 1 1 0 ZFP69B 65243 broad.mit.edu 37 1 40928765 40928765 + Missense_Mutation SNP A A C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:40928765A>C ENST00000411995.2 + 6 1484 c.1109A>C c.(1108-1110)aAa>aCa p.K370T ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.K268T NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B GTATGTGAGAAAGCCTTCAGC 0.423000 4 45 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113786647 113786647 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:113786647G>A ENST00000259213.4 - 4 237 c.130C>T c.(130-132)Cat>Tat p.H44Y IL36B_ENST00000327407.2_Missense_Mutation_p.H44Y NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 44 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 GCTATTAAATGAAGAGTGACT 0.438000 5 66 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5418344 5418344 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:5418344C>A ENST00000345221.3 - 16 4574 c.4020G>T c.(4018-4020)caG>caT p.Q1340H NLRP1_ENST00000354411.3_Missense_Mutation_p.Q1354H|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q1310H|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q1340H|NLRP1_ENST00000572272.1_Missense_Mutation_p.Q1384H NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1384 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding p.Q1384H(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCTCTCGATACTGGTCCACAA 0.582000 9 25 2.74318e-10 3.42531e-10 1 1 0 SMIM21 284274 broad.mit.edu 37 18 73139445 73139445 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:73139445G>T ENST00000584508.1 - 1 192 c.74C>A c.(73-75)gCa>gAa p.A25E SMIM21_ENST00000579022.1_Missense_Mutation_p.A25E|SMIM21_ENST00000382638.3_Missense_Mutation_p.A25E small integral membrane protein 21 TCCCATTCCTGCAGAGTCTTG 0.498000 30 75 2.65835e-16 3.53689e-16 1 1 0 MS4A4A 51338 broad.mit.edu 37 11 60070084 60070084 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:60070084G>T ENST00000355131.3 + 6 606 c.383G>T c.(382-384)gGg>gTg p.G128V MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000337908.4_Missense_Mutation_p.G147V|MS4A4A_ENST00000395016.3_Missense_Mutation_p.G128V NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 147 integral to membrane receptor activity p.G128E(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 GCTGCATCAGGGATCTTAATC 0.393000 15 52 1.05317e-09 1.29089e-09 1 1 0 PCLO 27445 broad.mit.edu 37 7 82582194 82582194 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:82582194C>T ENST00000423517.2 - 5 8412 c.8075G>A c.(8074-8076)aGc>aAc p.S2692N PCLO_ENST00000333891.8_Missense_Mutation_p.S2692N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2623 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGAAATGCTGCTGAGACCAAC 0.418000 4 49 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53074007 53074007 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:53074007C>G ENST00000276480.7 - 14 2205 c.1522G>C c.(1522-1524)Gat>Cat p.D508H NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 508 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACTTGGGCATCAAAACTGGCA 0.433000 17 87 0 0 1 0 0 POU3F4 5456 broad.mit.edu 37 X 82763436 82763436 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:82763436A>T ENST00000373200.2 + 1 168 c.104A>T c.(103-105)cAg>cTg p.Q35L RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 35 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 CGCAACCCTCAGAAACTTCTC 0.597000 9 8 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95743963 95743963 + Missense_Mutation SNP A A G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:95743963A>G ENST00000311106.3 - 9 1397 c.1160T>C c.(1159-1161)cTg>cCg p.L387P CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.L340P|PCSK1_ENST00000513085.1_5'UTR NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 387 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCCAGCAGCCAGAGGTGCAGA 0.527000 7 20 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22173083 22173083 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:22173083C>A ENST00000374695.3 - 63 8253 c.8174G>T c.(8173-8175)aGc>aTc p.S2725I HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2725 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGCATGGAGCTGCCAGGGGC 0.607000 4 67 0.150653 0.151301 1 1 0 NAV3 89795 broad.mit.edu 37 12 78513443 78513443 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:78513443G>A ENST00000397909.2 + 15 3640 c.3467G>A c.(3466-3468)aGa>aAa p.R1156K NAV3_ENST00000228327.6_Missense_Mutation_p.R1156K|NAV3_ENST00000266692.7_Missense_Mutation_p.R1156K|NAV3_ENST00000536525.2_Missense_Mutation_p.R1156K Q8IVL0 NAV3_HUMAN neuron navigator 3 1156 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GGAGGCCACAGATCCAGTACC 0.542000 HNSCC(70;0.22) 8 78 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179319183 179319183 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:179319183G>A ENST00000409117.3 + 3 692 c.336G>A c.(334-336)gtG>gtA p.V112V DFNB59_ENST00000375129.4_Silent_p.V112V NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 112 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) CCATTGCAGTGAAAGCTTCAT 0.348000 6 54 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79400611 79400611 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:79400611G>T ENST00000264895.6 + 56 8622 c.8182G>T c.(8182-8184)Ggc>Tgc p.G2728C NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2723 Calx-beta 2. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCTAGAATCAGGCTCTGATTT 0.463000 7 22 0.248553 0.249086 1 1 0 TTLL9 164395 broad.mit.edu 37 20 30507720 30507720 + Silent SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:30507720C>T ENST00000375938.4 + 7 811 c.558C>T c.(556-558)atC>atT p.I186I TTLL9_ENST00000310998.4_Silent_p.I136I|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000535842.1_Silent_p.I186I|TTLL9_ENST00000375934.4_Silent_p.I168I Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 186 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGAAGGACATCGTGGACTGGA 0.597000 4 70 0 0 1 0 0 ACER2 340485 broad.mit.edu 37 9 19435028 19435028 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:19435028C>G ENST00000340967.2 + 4 475 c.449C>G c.(448-450)tCt>tGt p.S150C ACER2_ENST00000380376.1_Missense_Mutation_p.S101C NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 150 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 AACAACATCTCTCTGATGACC 0.547000 7 87 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88009103 88009103 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:88009103C>T ENST00000276127.4 + 3 947 c.688C>T c.(688-690)Cgt>Tgt p.R230C CPXCR1_ENST00000373111.1_Missense_Mutation_p.R230C NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 230 intracellular zinc ion binding p.R230C(1) NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 ATGTAGATTCCGTGCTATTGT 0.378000 7 12 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476640 120476640 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr9:120476640G>C ENST00000355622.6 + 3 2335 c.2234G>C c.(2233-2235)cGc>cCc p.R745P TLR4_ENST00000394487.4_Missense_Mutation_p.R705P|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 745 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ATCCAGAGCCGCTGGTGTATC 0.488000 4 48 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234359637 234359637 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:234359637C>T ENST00000264057.2 + 17 2120 c.2108C>T c.(2107-2109)cCg>cTg p.P703L DGKD_ENST00000409813.3_Missense_Mutation_p.P659L NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 703 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GCTTCCCTTCCGCCCCAGCCG 0.592000 7 101 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072151 134072151 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:134072151G>T ENST00000264360.4 + 1 1682 c.856G>T c.(856-858)Gtg>Ttg p.V286L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 286 Cadherin 3. 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) CGGTGAGGTCGTGTACTCCTT 0.627000 19 59 5.26018e-13 6.88096e-13 1 1 0 OR4C46 119749 broad.mit.edu 37 11 51515668 51515668 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:51515668C>A ENST00000328188.1 + 1 387 c.387C>A c.(385-387)caC>caA p.H129Q NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 AGCCCTTGCACTATATGACTA 0.488000 24 134 9.57634e-11 1.21857e-10 1 1 0 BEND6 221336 broad.mit.edu 37 6 56880096 56880096 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:56880096C>G ENST00000370746.3 + 4 733 c.464C>G c.(463-465)tCc>tGc p.S155C BEND6_ENST00000545789.1_Missense_Mutation_p.S57C|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 155 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 AATTCTAACTCCAGTTCACCA 0.438000 6 116 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638282 149638282 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:149638282T>A ENST00000370401.2 + 4 747 c.437T>A c.(436-438)gTa>gAa p.V146E MAMLD1_ENST00000262858.5_Missense_Mutation_p.V146E|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V121E|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V121E Q13495 MAMD1_HUMAN mastermind-like domain containing 1 146 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TCACCATTTGTAGTACCACAG 0.498000 7 48 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835082 27835082 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:27835082C>T ENST00000331442.3 - 1 277 c.226G>A c.(226-228)Gtg>Atg p.V76M NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 76 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TTCTTCTCCACGTCGTAGCCA 0.562000 12 201 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105797466 105797466 + Splice_Site SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:105797466G>T ENST00000393127.2 + 13 2293 c.e13-1 GRIA4_ENST00000530497.1_Splice_Site|GRIA4_ENST00000282499.5_Splice_Site|GRIA4_ENST00000525187.1_Splice_Site NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) tccatgtttagaTCCCTCTCA 0.353000 14 55 3.27435e-08 3.8712e-08 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40366284 40366284 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:40366284G>A ENST00000221347.6 - 30 13957 c.13950C>T c.(13948-13950)tgC>tgT p.C4650C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4650 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACGGCGACGGGCATGGCTTGG 0.736000 7 54 0 0 1 0 0 SGCB 6443 broad.mit.edu 37 4 52894225 52894225 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:52894225T>A ENST00000381431.5 - 5 884 c.662A>T c.(661-663)gAt>gTt p.D221V SGCB_ENST00000535450.1_Missense_Mutation_p.D151V NM_000232.4 NP_000223.1 Q16585 SGCB_HUMAN sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 221 Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1) 17 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) AGCACGCCCATCAACTTTTAT 0.333000 12 46 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50705365 50705365 + Silent SNP C C A rs151062007 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr18:50705365C>A ENST00000442544.2 + 9 2068 c.1452C>A c.(1450-1452)tcC>tcA p.S484S DCC_ENST00000412726.1_Silent_p.S332S|DCC_ENST00000581580.1_Silent_p.S139S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 484 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.S484S(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCCTGGGTCCCTTCAGCTCA 0.453000 5 37 0.014758 0.0152141 1 1 0 FAM114A2 10827 broad.mit.edu 37 5 153381906 153381906 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:153381906G>A ENST00000351797.4 - 11 1237 c.1161C>T c.(1159-1161)gcC>gcT p.A387A FAM114A2_ENST00000522858.1_Silent_p.A387A|FAM114A2_ENST00000520667.1_Silent_p.A387A|FAM114A2_ENST00000520313.1_Silent_p.A317A NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 387 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 CAATTGAGCAGGCAGTCAGTT 0.448000 10 67 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6453034 6453034 + Splice_Site SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:6453034C>A ENST00000265983.3 - 9 1067 c.e9-1 NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) CCTGGGTGCCCTGGAGGACAA 0.502000 9 147 3.86212e-05 4.2538e-05 1 1 0 SLC8A1 6546 broad.mit.edu 37 2 40366544 40366544 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:40366544G>C ENST00000406785.1 - 7 2623 c.2434C>G c.(2434-2436)Cca>Gca p.P812A SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P843A|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P812A|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P812A|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P843A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P812A|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P848A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P840A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P812A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P848A P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 848 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) TTTGTACCTGGCACTGATGTT 0.448000 18 15 0 0 1 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078510 107078510 + RNA SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:107078510C>T ENST00000390628.2 - 0 274 CCACTGCCAACGACGATCCAT 0.532000 29 92 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89668138 89668138 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:89668138T>A ENST00000264344.5 - 19 2618 c.2411A>T c.(2410-2412)gAg>gTg p.E804V FAM13A_ENST00000395002.2_Missense_Mutation_p.E478V|FAM13A_ENST00000513837.1_Missense_Mutation_p.E450V|FAM13A_ENST00000511976.1_Missense_Mutation_p.E390V|FAM13A_ENST00000508369.1_Missense_Mutation_p.E478V|FAM13A_ENST00000503556.1_Missense_Mutation_p.E464V NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 804 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 AGCCACTTTCTCATTAGCAAT 0.378000 10 35 0 0 1 0 0 TEFM 79736 broad.mit.edu 37 17 29227570 29227570 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr17:29227570C>G ENST00000580840.1 - 3 542 c.506G>C c.(505-507)aGt>aCt p.S169T TEFM_ENST00000581216.1_Missense_Mutation_p.S169T Q96QE5 TEFM_HUMAN transcription elongation factor, mitochondrial 169 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding AGATATGATACTATTAACTGC 0.398000 11 104 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66626438 66626438 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:66626438C>A ENST00000309602.4 + 1 1466 c.1223C>A c.(1222-1224)gCc>gAc p.A408D PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 408 Fibronectin type-III. integral to membrane breast(1)|lung(1)|prostate(1) 3 TCTGAGCCAGCCGTGCAGGTG 0.706000 11 33 3.86212e-05 4.2538e-05 1 1 0 DUSP6 1848 broad.mit.edu 37 12 89744505 89744505 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:89744505A>T ENST00000279488.7 - 2 1929 c.698T>A c.(697-699)aTc>aAc p.I233N DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000547291.1_Missense_Mutation_p.I108N NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 233 Tyrosine-protein phosphatase. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 GATGTACTTGATGCCGAATTC 0.502000 47 136 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76660548 76660548 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:76660548G>T ENST00000369950.3 - 13 1744 c.1555C>A c.(1555-1557)Cta>Ata p.L519I IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 519 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ATTTCATCTAGGTGTCTGACC 0.488000 7 39 8.12818e-05 8.91047e-05 1 1 0 HAT1 8520 broad.mit.edu 37 2 172822973 172822973 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:172822973G>T ENST00000264108.4 + 7 691 c.655G>T c.(655-657)Gta>Tta p.V219L HAT1_ENST00000392584.1_Missense_Mutation_p.V134L|SLC25A12_ENST00000472748.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 219 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) CTTTGCGACCGTAGGCTACAT 0.438000 30 54 6.00712e-18 8.10788e-18 1 1 0 KDM5C 8242 broad.mit.edu 37 X 53222367 53222367 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:53222367C>T ENST00000375401.3 - 26 4997 c.4465G>A c.(4465-4467)Gct>Act p.A1489T KDM5C_ENST00000404049.3_Missense_Mutation_p.A1488T|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375379.3_Missense_Mutation_p.A1486T|KDM5C_ENST00000375383.3_Missense_Mutation_p.A1445T NM_004187.3 NP_004178.2 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1489 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 ACCTCCTCAGCCTCTGGCCCT 0.692000 """N, F, S""" clear cell renal carcinoma 22 17 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113536242 113536242 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr13:113536242C>G ENST00000375630.2 + 29 3528 c.3440C>G c.(3439-3441)tCt>tGt p.S1147C ATP11A_ENST00000375645.3_3'UTR|ATP11A_ENST00000487903.1_3'UTR NM_032189.3 NP_115565.3 P98196 AT11A_HUMAN ATPase, class VI, type 11A 0 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AGCTCCCACTCTCAGCAGGTG 0.642000 4 53 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238250802 238250802 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:238250802G>C ENST00000295550.4 - 37 8123 c.7671C>G c.(7669-7671)atC>atG p.I2557M COL6A3_ENST00000346358.4_Missense_Mutation_p.I2357M|COL6A3_ENST00000353578.4_Missense_Mutation_p.I2351M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I2356M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I2351M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I1950M NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2557 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGTGTTATTGATCTGGTTTA 0.433000 4 23 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653555 46653555 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr22:46653555G>T ENST00000253255.5 - 1 5664 c.5665C>A c.(5665-5667)Cag>Aag p.Q1889K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1889 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AACCGCTGCTGTTCTGGAAAA 0.393000 12 75 1.08611e-07 1.27761e-07 1 1 0 ALOX5 240 broad.mit.edu 37 10 45940992 45940992 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:45940992G>C ENST00000374391.2 + 14 1935 c.1882G>C c.(1882-1884)Gag>Cag p.E628Q RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.E571Q NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 628 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GCATTTTATCGAGAAGCCTGT 0.527000 10 56 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869801 4869801 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:4869801G>T ENST00000322101.2 - 1 713 c.638C>A c.(637-639)gCc>gAc p.A213D MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAAACCCATGGCTGAAAGAAC 0.527000 9 85 7.48243e-07 8.73574e-07 1 1 0 ZNF470 388566 broad.mit.edu 37 19 57089781 57089781 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:57089781G>T ENST00000330619.8 + 6 2670 c.1984G>T c.(1984-1986)Gcc>Tcc p.A662S ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A662S NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 662 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CAGCCAGGTTGCCCATCTTAC 0.428000 17 63 1.5739e-10 1.98651e-10 1 1 0 TRPV6 55503 broad.mit.edu 37 7 142583200 142583200 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:142583200C>A ENST00000359396.3 - 1 307 c.62G>T c.(61-63)aGa>aTa p.R21I RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 21 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTGGAACCATCTGCAGAACTT 0.612000 19 83 2.5808e-16 3.44352e-16 1 1 0 ZFP42 132625 broad.mit.edu 37 4 188924141 188924141 + Silent SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:188924141T>A ENST00000326866.4 + 4 588 c.180T>A c.(178-180)ccT>ccA p.P60P ZFP42_ENST00000509524.1_Silent_p.P60P NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 60 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AGCCTGGCCCTCAGGCTCTCG 0.522000 5 77 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080777 152080777 + Missense_Mutation SNP T T G rs71585886 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:152080777T>G ENST00000368804.1 - 2 4915 c.4916A>C c.(4915-4917)cAa>cCa p.Q1639P NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1639 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCACGCTCTTGGCGGTGCAG 0.602000 42 143 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625341 154625341 + Missense_Mutation SNP A A C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr4:154625341A>C ENST00000260010.6 + 1 2690 c.1282A>C c.(1282-1284)Atg>Ctg p.M428L NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 428 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TTTTCATTCTATGCCTGAAAC 0.378000 18 52 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123801892 123801892 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:123801892G>A ENST00000420886.2 - 20 2810 c.2811C>T c.(2809-2811)atC>atT p.I937I SBNO1_ENST00000267176.4_Silent_p.I936I|SBNO1_ENST00000602750.1_Silent_p.I936I|SBNO1_ENST00000602398.1_Silent_p.I937I NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 937 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTTCTGAGATGATAGCAATAT 0.393000 5 50 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2022235 2022235 + Missense_Mutation SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:2022235G>A ENST00000382722.5 - 3 742 c.380C>T c.(379-381)tCa>tTa p.S127L CACNA2D4_ENST00000585732.1_Missense_Mutation_p.S127L|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.S63L|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.S127L|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.S127L|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.S63L NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 127 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CATGTCCTCTGAGAACTTCCT 0.572000 11 27 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973670 46973670 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:46973670G>C ENST00000313683.10 - 2 928 c.623C>G c.(622-624)tCt>tGt p.S208C PNMAL1_ENST00000438932.2_Missense_Mutation_p.S208C|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 208 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CTTTAAGGCAGAACCCACCTC 0.587000 6 91 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 53227522 53227522 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:53227522G>T ENST00000373980.4 + 3 935 c.518G>T c.(517-519)tGt>tTt p.C173F PRKG1_ENST00000373985.1_Missense_Mutation_p.C146F|PRKG1_ENST00000401604.2_Missense_Mutation_p.C158F NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 158 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GTGAAGTTGTGTACCATGGGT 0.363000 4 54 0.0293803 0.0298924 1 1 0 HAUS5 23354 broad.mit.edu 37 19 36109870 36109870 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:36109870G>A ENST00000203166.5 + 13 1123 c.1098G>A c.(1096-1098)caG>caA p.Q366Q HAUS5_ENST00000379045.2_3'UTR NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 366 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 AGGAGCTGCAGGATGCAGCTG 0.652000 6 41 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70963564 70963564 + Silent SNP G G A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:70963564G>A ENST00000334414.6 - 14 3569 c.3525C>T c.(3523-3525)caC>caT p.H1175H PTPRB_ENST00000550857.1_Silent_p.H867H|PTPRB_ENST00000261266.5_Silent_p.H957H|PTPRB_ENST00000551525.1_Silent_p.H1174H|PTPRB_ENST00000550358.1_Silent_p.H1087H|PTPRB_ENST00000451516.2_Silent_p.H867H|PTPRB_ENST00000538708.1_Silent_p.H957H NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 957 Fibronectin type-III 14. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCTCAAAGACGTGCTTGGGAA 0.532000 6 68 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141754683 141754683 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:141754683C>T ENST00000475668.2 + 27 3343 c.3289C>T c.(3289-3291)Cgc>Tgc p.R1097C MGAM_ENST00000549489.2_Missense_Mutation_p.R1097C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1097 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R1097C(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GATTGAAATTCGCCGGAAGAG 0.498000 11 77 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76603121 76603121 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:76603121G>T ENST00000287239.4 + 3 995 c.506G>T c.(505-507)gGa>gTa p.G169V KAT6B_ENST00000372711.1_Missense_Mutation_p.G169V|KAT6B_ENST00000372724.1_Missense_Mutation_p.G169V|KAT6B_ENST00000372714.1_Missense_Mutation_p.G169V|KAT6B_ENST00000372725.1_Missense_Mutation_p.G169V NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 169 H15. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CTGAAAGACGGACCGCAGTAC 0.557000 7 56 0.00198382 0.00209129 1 1 0 EPHA3 2042 broad.mit.edu 37 3 89390966 89390966 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:89390966C>A ENST00000336596.2 + 5 1257 c.1032C>A c.(1030-1032)gaC>gaA p.D344E EPHA3_ENST00000494014.1_Missense_Mutation_p.D344E|EPHA3_ENST00000452448.2_Missense_Mutation_p.D344E NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 344 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTATCCTGGACTGGAGTTGGC 0.433000 TSP Lung(6;0.00050) 30 41 1.30897e-18 1.77701e-18 1 1 0 GTDC1 79712 broad.mit.edu 37 2 144903231 144903231 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:144903231C>G ENST00000409214.1 - 5 533 c.255G>C c.(253-255)aaG>aaC p.K85N GTDC1_ENST00000344850.4_Missense_Mutation_p.K85N|GTDC1_ENST00000392869.1_Missense_Mutation_p.K85N|GTDC1_ENST00000542155.1_Missense_Mutation_p.K85N|GTDC1_ENST00000392867.3_Missense_Mutation_p.K85N|GTDC1_ENST00000241391.5_Missense_Mutation_p.K85N|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000409298.1_Missense_Mutation_p.K85N NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 85 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) AATACAGAATCTTTTTCAGTT 0.423000 6 79 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121151780 121151780 + Missense_Mutation SNP T T A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr3:121151780T>A ENST00000264233.5 - 29 7772 c.7644A>T c.(7642-7644)gaA>gaT p.E2548D NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2548 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CAACATCTTCTTCTGCCACTT 0.443000 DNA polymerases (catalytic subunits) 24 22 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73039801 73039801 + Splice_Site SNP C C T rs146776724 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:73039801C>T ENST00000335350.6 + 2 719 c.304_splice c.e2+1 p.T101_splice UNC5B_ENST00000373192.4_Splice_Site_p.T101_splice NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 101 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 ATGAGGCCACCGGTGAGCCCG 0.652000 6 49 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46884215 46884215 + Missense_Mutation SNP A A T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:46884215A>T ENST00000378623.1 - 37 5569 c.5327T>A c.(5326-5328)gTg>gAg p.V1776E LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1776 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) TTCAATCTTCACTTCCTGTGT 0.443000 37 92 0 0 1 0 0 MRPL14 64928 broad.mit.edu 37 6 44081947 44081947 + Splice_Site SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:44081947C>T ENST00000372014.3 - 3 203 c.e3-1 NM_032111.2 NP_115487.2 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) CCCAGTGGTGCTGGTGGGAGG 0.547000 12 192 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34628689 34628689 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr15:34628689C>G ENST00000354181.3 - 2 685 c.193G>C c.(193-195)Ggg>Cgg p.G65R SLC12A6_ENST00000560611.1_Missense_Mutation_p.G65R|SLC12A6_ENST00000397702.2_Missense_Mutation_p.G6R|SLC12A6_ENST00000397707.2_Missense_Mutation_p.G65R|SLC12A6_ENST00000558667.1_Missense_Mutation_p.G65R|SLC12A6_ENST00000458406.2_Missense_Mutation_p.G6R|SLC12A6_ENST00000558589.1_Missense_Mutation_p.G56R Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 65 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GTGGTGGCCCCAGACATCTCA 0.562000 4 39 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53200974 53200974 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr12:53200974C>G ENST00000551956.1 - 9 1934 c.1442G>C c.(1441-1443)gGg>gCg p.G481A KRT4_ENST00000458244.2_Missense_Mutation_p.G461A|KRT4_ENST00000293774.4_Missense_Mutation_p.G555A B4DRS2 B4DRS2_HUMAN keratin 4 481 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CAGGCCAAACCCGGAGCCACT 0.547000 16 71 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590266 156590266 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr5:156590266G>T ENST00000302938.4 - 2 1105 c.1010C>A c.(1009-1011)tCc>tAc p.S337Y NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 337 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCCTCTGAGGATATGTTGGC 0.577000 18 73 5.3912e-06 6.17081e-06 1 1 0 PANK1 53354 broad.mit.edu 37 10 91404901 91404901 + Silent SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr10:91404901G>T ENST00000307534.4 - 1 314 c.159C>A c.(157-159)ccC>ccA p.P53P NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 53 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) GCGCGGAATCGGGGATCCCCG 0.791000 3 6 0.004672 0.00487014 1 1 0 LGMN 5641 broad.mit.edu 37 14 93199070 93199070 + Missense_Mutation SNP T T C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr14:93199070T>C ENST00000393218.2 - 3 399 c.62A>G c.(61-63)gAt>gGt p.D21G LGMN_ENST00000334869.4_Missense_Mutation_p.D21G|LGMN_ENST00000555699.1_Missense_Mutation_p.D21G|LGMN_ENST00000557434.1_Missense_Mutation_p.D21G NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 21 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TTCAGGATCATCTATAGGAAC 0.468000 18 103 0 0 1 0 0 GPN1 11321 broad.mit.edu 37 2 27851919 27851919 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr2:27851919G>C ENST00000264718.3 + 1 57 c.36G>C c.(34-36)agG>agC p.R12S GPN1_ENST00000515877.1_Intron|GPN1_ENST00000458167.2_Intron|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000424214.1_Intron NM_007266.3 NP_009197.2 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 0 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|large_intestine(1)|lung(12) 14 GTGGGGCCAGGAGGAAGATGG 0.627000 4 74 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55134612 55134613 + Splice_Site INS - - G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:55134612_55134613insG ENST00000414150.2 + 5 1667 c.e5+2 MROH7_ENST00000421030.2_Splice_Site|MROH7_ENST00000339553.5_Splice_Site|MROH7_ENST00000545244.1_Splice_Site|MROH7_ENST00000409996.1_Splice_Site|MROH7_ENST00000454855.2_Splice_Site|MROH7_ENST00000395690.2_Splice_Site maestro heat-like repeat family member 7 AAGATTATGGTGGGGGAGCCAC 0.559 8 45 --- --- --- --- LPHN2 23266 broad.mit.edu 37 1 82436124 82436124 + Frame_Shift_Del DEL A A - TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr1:82436124delA ENST00000370728.1 + 18 3493 c.2848delA c.(2848-2850)aafs p.K951fs LPHN2_ENST00000370713.1_Frame_Shift_Del_p.K938fs|LPHN2_ENST00000370730.1_Frame_Shift_Del_p.K951fs|LPHN2_ENST00000359929.3_Frame_Shift_Del_p.K938fs|LPHN2_ENST00000370715.1_Frame_Shift_Del_p.K938fs|LPHN2_ENST00000335786.5_Frame_Shift_Del_p.K951fs|LPHN2_ENST00000394879.1_Frame_Shift_Del_p.K938fs|LPHN2_ENST00000370725.1_Frame_Shift_Del_p.K951fs|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Frame_Shift_Del_p.K938fs|LPHN2_ENST00000271029.4_Frame_Shift_Del_p.K951fs|LPHN2_ENST00000370717.2_Frame_Shift_Del_p.K951fs|LPHN2_ENST00000370721.1_Frame_Shift_Del_p.K876fs|LPHN2_ENST00000370723.1_Frame_Shift_Del_p.K938fs|LPHN2_ENST00000370727.1_Frame_Shift_Del_p.K951fs O95490 LPHN2_HUMAN latrophilin 2 951 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATATTCAAGGAAAAAATATTA 0.378 7 87 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 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 2 4 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38917244 38917245 + Frame_Shift_Ins INS - - T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr6:38917244_38917245insT ENST00000359357.3 + 79 11749_11750 c.11495_11496insT c.(11494-11496)aggfs p.R3832fs DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.R3796fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.R4049fs|RP1-207H1.3_ENST00000416948.1_RNA dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CGTAATGAGAAGGGGTGGAAAA 0.376 7 157 --- --- --- --- ADAP1 11033 broad.mit.edu 37 7 944739 944740 + Frame_Shift_Ins INS - - A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr7:944739_944740insA ENST00000265846.5 - 5 677_678 c.458_459insT c.(457-459)cacfs p.H153fs ADAP1_ENST00000539900.1_Frame_Shift_Ins_p.H164fs|ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000449296.2_Frame_Shift_Ins_p.H81fs NM_006869.2 NP_006860.1 O75689 ADAP1_HUMAN ArfGAP with dual PH domains 1 153 PH 1. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 6 CTCGTTCTGTCAGCACAAACTT 0.604 24 23 --- --- --- --- LOC101929268 101929268 broad.mit.edu 37 8 49559996 49559996 + RNA DEL G G - TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr8:49559996delG ENST00000522575.1 + 0 356 ATGGAGCCAAGGAAGTGTGGA 0.582 2 4 --- --- --- --- OR51D1 390038 broad.mit.edu 37 11 4661484 4661484 + Frame_Shift_Del DEL C C - TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:4661484delC ENST00000357605.2 + 1 540 c.464delC c.(463-465)gcfs p.A155fs NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTACTGTGGCCAAGATTGGA 0.542 41 110 --- --- --- --- OR4A15 81328 broad.mit.edu 37 11 55135687 55135688 + Frame_Shift_Ins INS - - T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr11:55135687_55135688insT ENST00000314706.3 + 1 328_329 c.328_329insT c.(328-330)tgtfs p.C110fs NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TCCCAAAATGATTGTTGACTTG 0.416 35 159 --- --- --- --- GABRB3 2562 broad.mit.edu 37 15 27184517 27184518 + Frame_Shift_Ins INS - - A rs17647384 by1000genomes TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr15:27184517_27184518insA ENST00000541819.2 - 1 168_169 c.66_67insT c.(64-69)tggcctfs p.WP22fs GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000335625.5_Intron P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 0 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAGAACAGGCGACACCTCTCTG 0.594 8 40 --- --- --- --- PHKB 5257 broad.mit.edu 37 16 47684775 47684775 + Frame_Shift_Del DEL G G - TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr16:47684775delG ENST00000455779.1 + 21 2078 c.1893delG c.(1891-1893)ctfs p.L631fs PHKB_ENST00000323584.5_Frame_Shift_Del_p.L638fs|PHKB_ENST00000566044.1_Frame_Shift_Del_p.L631fs|PHKB_ENST00000299167.8_Frame_Shift_Del_p.L638fs Q93100 KPBB_HUMAN phosphorylase kinase, beta 638 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TAGATATGCTGGCAGCCCTTA 0.338 31 52 --- --- --- --- PDP2 57546 broad.mit.edu 37 16 66919531 66919531 + Frame_Shift_Del DEL G G - TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr16:66919531delG ENST00000311765.2 + 2 1678 c.1344delG c.(1342-1344)ttfs p.L448fs PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 448 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CCGCCAACTTGGGGCTCATGC 0.617 25 40 --- --- --- --- ANGPTL6 83854 broad.mit.edu 37 19 10206840 10206841 + Frame_Shift_Ins INS - - G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:10206840_10206841insG ENST00000253109.4 - 2 637_638 c.399_400insC c.(397-402)gccggcfs p.G134fs ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.G134fs|ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.G134fs NM_031917.2 NP_114123.2 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 134 angiogenesis|cell differentiation|signal transduction extracellular space receptor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1) 12 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) GCCAGCGCCGCGGCAGGCTCCG 0.792 5 2 --- --- --- --- ZNF677 342926 broad.mit.edu 37 19 53740671 53740672 + Frame_Shift_Del DEL CA CA - TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr19:53740671_53740672delCA ENST00000333952.4 - 5 1473_1474 c.1308_1309delTG c.(1306-1311)tggcfs p.CG436fs ZNF677_ENST00000598513.1_Frame_Shift_Del_p.CG436fs Q86XU0 ZN677_HUMAN zinc finger protein 677 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AAAGCCCTGCCACACACATTAC 0.371 7 37 --- --- --- --- SLC12A5 57468 broad.mit.edu 37 20 44685942 44685943 + Splice_Site DEL TG TG - TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chr20:44685942_44685943delTG ENST00000454036.1 + 25 3404 c.3328_splice c.e25+1 p.1110_splice SLC12A5_ENST00000243964.3_Splice_Site_p.1087_splice NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1110 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGATGAAAACTGTATCCTGGAA 0.559 10 134 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48209460 48209460 + Frame_Shift_Del DEL C C - TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx f64488c5-16e2-402f-aead-720962f06907 e3dcb110-bb8a-4483-9894-25cff1fd6de5 g.chrX:48209460delC ENST00000298396.2 - 6 480 c.428delG c.(427-429)gafs p.G143fs SSX3_ENST00000376895.1_Frame_Shift_Del_p.G55fs|SSX3_ENST00000376893.3_Frame_Shift_Del_p.G143fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 AGTTGGTTTTCCCGGGGGGCA 0.502 124 77 --- --- --- ---