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 VAV3 10451 broad.mit.edu 37 1 108231002 108231002 + Splice_Site SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr1:108231002C>T ENST00000370056.4 - 18 2006 c.e18+1 VAV3_ENST00000544443.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000415432.2_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) GTTAATCTTACCTCTGGTAGT 0.328 14 28 --- --- --- --- CA14 23632 broad.mit.edu 37 1 150234607 150234607 + Missense_Mutation SNP T T A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr1:150234607T>A ENST00000369111.4 + 4 1277 c.307T>A c.(307-309)Tat>Aat p.Y103N NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 103 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TCCCCGAAAATATGTAGCTGC 0.537 5 96 --- --- --- --- CD1C 911 broad.mit.edu 37 1 158262542 158262542 + Missense_Mutation SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr1:158262542C>T ENST00000368170.3 + 4 1046 c.767C>T c.(766-768)cCt>cTt p.P256L NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 256 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GATATTCTTCCTAATGCTGAT 0.527 25 57 --- --- --- --- IFI16 3428 broad.mit.edu 37 1 158988127 158988127 + Missense_Mutation SNP A A G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr1:158988127A>G ENST00000295809.7 + 5 913 c.658A>G c.(658-660)Acc>Gcc p.T220A IFI16_ENST00000359709.3_Missense_Mutation_p.T164A|IFI16_ENST00000368132.3_Missense_Mutation_p.T220A|IFI16_ENST00000448393.2_Missense_Mutation_p.T220A|IFI16_ENST00000340979.6_Missense_Mutation_p.T220A|IFI16_ENST00000368131.4_Missense_Mutation_p.T220A|IFI16_ENST00000430894.2_Missense_Mutation_p.T168A Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 220 HIN-200 1. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TGAATATGAGACCCCAGAAAT 0.403 28 29 --- --- --- --- OR10J3 441911 broad.mit.edu 37 1 159284004 159284004 + Missense_Mutation SNP G G A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr1:159284004G>A ENST00000332217.5 - 1 445 c.446C>T c.(445-447)tCa>tTa p.S149L NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AATCCCCAGTGATCCAGAGGC 0.512 7 50 --- --- --- --- KCNJ10 3766 broad.mit.edu 37 1 160012031 160012031 + Missense_Mutation SNP C C G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr1:160012031C>G ENST00000368089.3 - 2 518 c.292G>C c.(292-294)Gag>Cag p.E98Q KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 98 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGTCCAGCTCCAGCAGGTCC 0.582 26 56 --- --- --- --- NDUFS2 4720 broad.mit.edu 37 1 161179951 161179951 + Missense_Mutation SNP C C G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr1:161179951C>G ENST00000392179.4 + 7 992 c.753C>G c.(751-753)ttC>ttG p.F251L NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.F251L|NDUFS2_ENST00000476409.2_Missense_Mutation_p.F153L NM_001166159.1 NP_001159631.1 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 251 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 18 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) CTAAGAACTTCTCTCTTCGGC 0.448 OREG0013941 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 23 --- --- --- --- MFSD9 84804 broad.mit.edu 37 2 103353178 103353178 + Missense_Mutation SNP T T A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr2:103353178T>A ENST00000258436.5 - 1 135 c.92A>T c.(91-93)gAg>gTg p.E31V NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 31 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 AGCCTCCGCCTCGGTTCCTGT 0.672 6 26 --- --- --- --- MYO7B 4648 broad.mit.edu 37 2 128335737 128335737 + Silent SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr2:128335737C>T ENST00000389524.4 + 9 932 c.879C>T c.(877-879)aaC>aaT p.N293N MYO7B_ENST00000428314.1_Silent_p.N293N|MYO7B_ENST00000409816.2_Silent_p.N293N Q6PIF6 MYO7B_HUMAN myosin VIIB 293 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGGGCTCAACGACGCCAAGG 0.632 9 16 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168115485 168115485 + Missense_Mutation SNP G G T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr2:168115485G>T ENST00000409728.1 + 11 2617 c.2528G>T c.(2527-2529)gGa>gTa p.G843V XIRP2_ENST00000409756.2_Missense_Mutation_p.G810V|XIRP2_ENST00000420519.1_Missense_Mutation_p.G843V|XIRP2_ENST00000409043.1_Missense_Mutation_p.G810V|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.G588V NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 GTAAAGGGGGGAAGTTCAATC 0.438 3 21 --- --- --- --- TLK1 9874 broad.mit.edu 37 2 171884862 171884862 + Missense_Mutation SNP C C G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr2:171884862C>G ENST00000442919.2 - 12 1694 c.1079G>C c.(1078-1080)gGa>gCa p.G360A TLK1_ENST00000521943.1_Missense_Mutation_p.G360A|TLK1_ENST00000434911.2_Missense_Mutation_p.G312A|TLK1_ENST00000360843.3_Missense_Mutation_p.G429A|TLK1_ENST00000431350.2_Missense_Mutation_p.G408A NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 408 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TTTGAGATGTCCTAGTCTAAG 0.303 5 22 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179485645 179485645 + Missense_Mutation SNP A A G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr2:179485645A>G ENST00000589042.1 - 247 45916 c.45692T>C c.(45691-45693)gTc>gCc p.V15231A TTN_ENST00000359218.5_Missense_Mutation_p.V6291A|TTN_ENST00000342992.6_Missense_Mutation_p.V12663A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V6166A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V13590A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6358A|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13590 Fibronectin type-III 11. 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) TTCAGTATTGACTTCACAGTT 0.403 10 55 --- --- --- --- ZNF804A 91752 broad.mit.edu 37 2 185802145 185802145 + Nonsense_Mutation SNP T T A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr2:185802145T>A ENST00000302277.6 + 4 2616 c.2022T>A c.(2020-2022)tgT>tgA p.C674* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 674 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAGAAATGTGTAAAACATGGA 0.318 6 93 --- --- --- --- FAM134A 79137 broad.mit.edu 37 2 220046151 220046151 + Missense_Mutation SNP A A T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr2:220046151A>T ENST00000430297.2 + 7 981 c.845A>T c.(844-846)gAa>gTa p.E282V NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 282 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAGAGAGTGAAAGCGAGGCA 0.532 14 45 --- --- --- --- KALRN 8997 broad.mit.edu 37 3 124374511 124374511 + Silent SNP G G T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr3:124374511G>T ENST00000291478.5 + 6 928 c.765G>T c.(763-765)gtG>gtT p.V255V KALRN_ENST00000428018.2_Silent_p.V223V|KALRN_ENST00000459915.1_Silent_p.V44V|KALRN_ENST00000393496.1_Silent_p.V293V|KALRN_ENST00000360013.3_Silent_p.V1952V NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GCATTGTGGTGGAGGTAAGTA 0.493 8 62 --- --- --- --- ZNF148 7707 broad.mit.edu 37 3 124951540 124951540 + Missense_Mutation SNP C C A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr3:124951540C>A ENST00000360647.4 - 9 2515 c.2030G>T c.(2029-2031)gGa>gTa p.G677V ZNF148_ENST00000484491.1_Missense_Mutation_p.G677V|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.G677V|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.G677V NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 677 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 AACTATTAGTCCAAAGTGGGA 0.438 52 87 --- --- --- --- ASTE1 28990 broad.mit.edu 37 3 130743334 130743334 + Silent SNP G G A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr3:130743334G>A ENST00000264992.3 - 3 1258 c.817C>T c.(817-819)Cta>Tta p.L273L ASTE1_ENST00000514044.1_Silent_p.L273L NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 273 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 ACATTATCTAGTGCTTCGGTA 0.458 20 49 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178928235 178928235 + Missense_Mutation SNP A A C TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr3:178928235A>C ENST00000263967.3 + 9 1578 c.1421A>C c.(1420-1422)gAg>gCg p.E474A NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 474 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCATGCTTAGAGTTGGAGTTT 0.373 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 37 53 --- --- --- --- TRIM60 166655 broad.mit.edu 37 4 165962535 165962535 + Silent SNP C C G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr4:165962535C>G ENST00000512596.1 + 3 1527 c.1311C>G c.(1309-1311)ctC>ctG p.L437L TRIM60_ENST00000341062.5_Silent_p.L437L|TRIM60_ENST00000508504.1_Silent_p.L437L NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 437 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) GGTCTATTCTCTATACTTTTA 0.358 36 88 --- --- --- --- EDIL3 10085 broad.mit.edu 37 5 83476237 83476237 + Missense_Mutation SNP C C A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr5:83476237C>A ENST00000296591.5 - 4 747 c.329G>T c.(328-330)gGa>gTa p.G110V EDIL3_ENST00000380138.3_Missense_Mutation_p.G100V NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 110 EGF-like 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) CCCATTAAATCCTCGGGGACA 0.378 7 51 --- --- --- --- PCDHGA9 56107 broad.mit.edu 37 5 140783471 140783471 + Missense_Mutation SNP G G C TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr5:140783471G>C ENST00000573521.1 + 1 952 c.952G>C c.(952-954)Gaa>Caa p.E318Q PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTATGAAATGGAAATACAAGC 0.358 79 67 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149212575 149212575 + Silent SNP C C G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr5:149212575C>G ENST00000309241.5 + 5 971 c.939C>G c.(937-939)ccC>ccG p.P313P PPARGC1B_ENST00000360453.4_Silent_p.P274P|PPARGC1B_ENST00000394320.3_Silent_p.P313P|PPARGC1B_ENST00000403750.1_Silent_p.P249P NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 313 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGCCACTCCCCAAGGCCTGCA 0.627 8 73 --- --- --- --- DPPA5 340168 broad.mit.edu 37 6 74063588 74063588 + Missense_Mutation SNP G G A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr6:74063588G>A ENST00000370370.3 - 2 349 c.280C>T c.(280-282)Cgc>Tgc p.R94C NM_001025290.2 NP_001020461.1 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 94 multicellular organismal development cytoplasm RNA binding NS(1)|endometrium(1)|lung(5) 7 CGCTCCTGGCGCTGGCGGTGC 0.632 5 21 --- --- --- --- CACNA2D1 781 broad.mit.edu 37 7 81714091 81714091 + Missense_Mutation SNP A A C TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr7:81714091A>C ENST00000356860.3 - 7 990 c.652T>G c.(652-654)Tat>Gat p.Y218D CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Y218D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y218D NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 218 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTACCTGGATAATATCGAGCT 0.418 19 35 --- --- --- --- GRM8 2918 broad.mit.edu 37 7 126086370 126086370 + Silent SNP A A T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr7:126086370A>T ENST00000339582.2 - 10 3295 c.2487T>A c.(2485-2487)tcT>tcA p.S829S GRM8_ENST00000444921.2_Silent_p.S829S|GRM8_ENST00000358373.3_Silent_p.S829S O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 829 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCATGCCCAGAGATACTGAAG 0.398 HNSCC(24;0.065) 30 49 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151855999 151855999 + Silent SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr7:151855999C>T ENST00000355193.2 - 44 11837 c.11619G>A c.(11617-11619)gaG>gaA p.E3873E KMT2C_ENST00000262189.6_Silent_p.E3873E lysine (K)-specific methyltransferase 2C CTTGTTTCTCCTCTTCGTCCT 0.458 55 227 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110412425 110412425 + Missense_Mutation SNP C C A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr8:110412425C>A ENST00000378402.5 + 13 1237 c.1133C>A c.(1132-1134)tCc>tAc p.S378Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 378 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GATTCAGCTTCCTATATTTGG 0.423 HNSCC(38;0.096) 19 350 --- --- --- --- PBX3 5090 broad.mit.edu 37 9 128724390 128724390 + Missense_Mutation SNP G G A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr9:128724390G>A ENST00000373487.4 + 8 1162 c.1082G>A c.(1081-1083)gGt>gAt p.G361D PBX3_ENST00000373483.2_Missense_Mutation_p.G159D|PBX3_ENST00000373489.5_Missense_Mutation_p.G340D|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000447726.2_Missense_Mutation_p.G265D P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 340 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 GGTTCTTCTGGTTCTTTTAAC 0.443 7 23 --- --- --- --- CARD9 64170 broad.mit.edu 37 9 139265071 139265071 + Missense_Mutation SNP G G C TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr9:139265071G>C ENST00000371732.5 - 5 875 c.710C>G c.(709-711)gCc>gGc p.A237G CARD9_ENST00000371734.3_Missense_Mutation_p.A237G|CARD9_ENST00000315908.7_Missense_Mutation_p.A237G NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 237 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) CTGCTCCATGGCGTGCCTGAG 0.652 7 40 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140051399 140051399 + Missense_Mutation SNP A A T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr9:140051399A>T ENST00000371561.3 + 6 1975 c.878A>T c.(877-879)cAc>cTc p.H293L GRIN1_ENST00000371546.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371555.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371550.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371559.4_Missense_Mutation_p.H293L|GRIN1_ENST00000315048.3_Missense_Mutation_p.H293L|GRIN1_ENST00000371560.3_Missense_Mutation_p.H314L|GRIN1_ENST00000350902.5_Missense_Mutation_p.H293L|GRIN1_ENST00000371553.3_Missense_Mutation_p.H314L|GRIN1_ENST00000471122.1_3'UTR NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 293 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CAGGCCGTGCACGAGCTCCTC 0.672 12 18 --- --- --- --- GIF 2694 broad.mit.edu 37 11 59611368 59611368 + Missense_Mutation SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr11:59611368C>T ENST00000541311.1 - 2 399 c.165G>A c.(163-165)atG>atA p.M55I GIF_ENST00000257248.2_Missense_Mutation_p.M80I P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 80 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 TGTCGCTGGACATGAGCTGGT 0.542 5 22 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 66985327 66985327 + Silent SNP G G A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr11:66985327G>A ENST00000529006.2 + 9 1259 c.813G>A c.(811-813)aaG>aaA p.K271K KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.K271K NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 271 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 TTGAGCTCAAGCAGGGCTATA 0.458 5 50 --- --- --- --- PKNOX2 63876 broad.mit.edu 37 11 125255503 125255503 + Missense_Mutation SNP A A T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr11:125255503A>T ENST00000298282.9 + 6 555 c.284A>T c.(283-285)cAg>cTg p.Q95L PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q31L NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 95 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CAGGCCACCCAGGGCTCTGAG 0.557 22 51 --- --- --- --- SUOX 6821 broad.mit.edu 37 12 56397664 56397664 + Missense_Mutation SNP A A T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr12:56397664A>T ENST00000394109.3 + 3 1215 c.491A>T c.(490-492)gAc>gTc p.D164V SUOX_ENST00000394115.2_Missense_Mutation_p.D164V|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.D164V|SUOX_ENST00000548274.1_Missense_Mutation_p.D164V|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D164V P51687 SUOX_HUMAN sulfite oxidase 164 mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) AATCCTGAAGACAAGGTAGCC 0.562 7 59 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23851721 23851721 + Missense_Mutation SNP C C G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr14:23851721C>G ENST00000405093.3 - 38 5782 c.5712G>C c.(5710-5712)gaG>gaC p.E1904D MYH6_ENST00000356287.3_Missense_Mutation_p.E1904D NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1904 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCTCATCCAGCTCATGCTGCA 0.607 28 63 --- --- --- --- ADAM20 8748 broad.mit.edu 37 14 70989610 70989610 + Missense_Mutation SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr14:70989610C>T ENST00000256389.3 - 2 2259 c.2015G>A c.(2014-2016)cGt>cAt p.R672H RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 622 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) ACACTTCTTACGGATGCAGAT 0.468 73 150 --- --- --- --- ALDH6A1 4329 broad.mit.edu 37 14 74537998 74537998 + Silent SNP T T C TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr14:74537998T>C ENST00000553458.1 - 6 728 c.630A>G c.(628-630)ccA>ccG p.P210P CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Silent_p.P197P NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 210 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) CTCGCTCAGATGGTTTCATTA 0.483 22 36 --- --- --- --- E4F1 1877 broad.mit.edu 37 16 2284613 2284613 + Silent SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr16:2284613C>T ENST00000301727.4 + 11 1671 c.1623C>T c.(1621-1623)caC>caT p.H541H E4F1_ENST00000564139.1_Silent_p.H541H|E4F1_ENST00000565090.1_Intron NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 541 Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TCAGGACACACCTGGAGGAGA 0.632 3 8 --- --- --- --- NPIPB4 440345 broad.mit.edu 37 16 21854800 21854800 + Missense_Mutation SNP G G C TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr16:21854800G>C ENST00000415645.2 - 4 491 c.452C>G c.(451-453)aCa>aGa p.T151R NPIPB4_ENST00000357370.5_Missense_Mutation_p.T151R|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR nuclear pore complex interacting protein family, member B4 TCTAACTTTTGTTTCCACATG 0.388 47 202 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31409184 31409184 + Silent SNP G G T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr16:31409184G>T ENST00000389202.2 + 5 430 c.381G>T c.(379-381)ctG>ctT p.L127L NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 127 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.G128C(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCCTCCTGCTGGGCTCGCGCT 0.642 5 17 --- --- --- --- COG1 9382 broad.mit.edu 37 17 71189377 71189377 + Missense_Mutation SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr17:71189377C>T ENST00000299886.4 + 1 249 c.169C>T c.(169-171)Cgc>Tgc p.R57C RP11-143K11.5_ENST00000580671.1_RNA NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 57 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) CGAACGGTACCGCGACCTGAT 0.697 3 14 --- --- --- --- ACSS1 84532 broad.mit.edu 37 20 24993264 24993264 + Missense_Mutation SNP C C T TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr20:24993264C>T ENST00000537502.1 - 10 3026 c.1495G>A c.(1495-1497)Ggc>Agc p.G499S ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Missense_Mutation_p.G461S|ACSS1_ENST00000323482.4_Missense_Mutation_p.G582S Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 582 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGGGGGTAGCCAATGACAGCA 0.567 29 61 --- --- --- --- BRD1 23774 broad.mit.edu 37 22 50217771 50217771 + Silent SNP G G A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chr22:50217771G>A ENST00000216267.8 - 1 681 c.195C>T c.(193-195)ctC>ctT p.L65L BRD1_ENST00000404760.1_Silent_p.L65L|BRD1_ENST00000404034.1_Silent_p.L65L|BRD1_ENST00000457780.2_Silent_p.L65L NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 65 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) CTTGAGCAGTGAGGTCATCTT 0.458 35 48 --- --- --- --- DRP2 1821 broad.mit.edu 37 X 100511155 100511155 + Silent SNP G G A TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chrX:100511155G>A ENST00000395209.3 + 21 2822 c.2295G>A c.(2293-2295)cgG>cgA p.R765R DRP2_ENST00000538510.1_Silent_p.R765R|DRP2_ENST00000402866.1_Silent_p.R765R|DRP2_ENST00000541709.1_Silent_p.R687R NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 765 central nervous system development cytoplasm|cytoskeleton zinc ion binding p.R762R(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TCACAGACCGGGAGCCAGCCT 0.577 40 21 --- --- --- --- DOCK11 139818 broad.mit.edu 37 X 117742298 117742298 + Silent SNP A A G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2 e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4 g.chrX:117742298A>G ENST00000276204.6 + 26 2930 c.2856A>G c.(2854-2856)ttA>ttG p.L952L DOCK11_ENST00000276202.7_Silent_p.L952L Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 952 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CAGATTTTTTATCAATAAACA 0.418 27 99 --- --- --- ---