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 MTOR 2475 broad.mit.edu 37 1 11217231 11217231 + Missense_Mutation SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:11217231A>G uc001asd.2 - 30 4568 c.4447T>C c.(4447-4449)TGC>CGC p.C1483R NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1483 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GCCTCGAGGCAGCGCATGCGG 0.527 KIF17 57576 broad.mit.edu 37 1 21031072 21031072 + Missense_Mutation SNP G A A rs139912475 TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:21031072G>A uc001bdr.3 - 5 1109 c.991C>T c.(991-993)CGG>TGG p.R331W KIF17_uc001bds.3_Missense_Mutation_p.R331W NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 331 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TTCTTGGCCCGGTTGGCGTAG 0.597 ELTD1 64123 broad.mit.edu 37 1 79412033 79412033 + Missense_Mutation SNP C G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:79412033C>G uc001diq.3 - 3 407 c.251G>C c.(250-252)TGT>TCT p.C84S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 84 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TACACACATACAATAATAACT 0.363 ABCA4 24 broad.mit.edu 37 1 94543367 94543367 + Missense_Mutation SNP A T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:94543367A>T uc001dqh.2 - 11 1537 c.1433T>A c.(1432-1434)ATC>AAC p.I478N ABCA4_uc010otn.1_Missense_Mutation_p.I478N NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 478 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GAAGTTTAGGATGGCTTCAGC 0.493 ATP1A2 477 broad.mit.edu 37 1 160106156 160106156 + Missense_Mutation SNP G C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:160106156G>C uc001fvc.2 + 18 2691 c.2559G>C c.(2557-2559)CAG>CAC p.Q853H ATP1A2_uc001fvb.2_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.2_Missense_Mutation_p.Q589H NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 853 Helical; (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCTACGGACAGATCGGTGCGC 0.577 DUSP27 92235 broad.mit.edu 37 1 167064116 167064116 + Silent SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:167064116G>A uc001geb.1 + 1 30 c.30G>A c.(28-30)GAG>GAA p.E10E NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 10 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CAGAGGAGGAGCAGGTAGTCC 0.547 DUSP27 92235 broad.mit.edu 37 1 167095182 167095182 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:167095182C>T uc001geb.1 + 5 814 c.814C>T c.(814-816)CGG>TGG p.R272W NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 272 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GAAGCAGCTGCGGGAGCTCAA 0.582 NLRP3 114548 broad.mit.edu 37 1 247587535 247587535 + Missense_Mutation SNP G T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:247587535G>T uc001icr.2 + 5 928 c.790G>T c.(790-792)GTG>TTG p.V264L NLRP3_uc001ics.2_Missense_Mutation_p.V264L|NLRP3_uc001icu.2_Missense_Mutation_p.V264L|NLRP3_uc001icw.2_Missense_Mutation_p.V264L|NLRP3_uc001icv.2_Missense_Mutation_p.V264L|NLRP3_uc010pyw.1_Missense_Mutation_p.V262L|NLRP3_uc001ict.1_Missense_Mutation_p.V262L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 264 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTGTCGAGAGGTGAGCCTTGT 0.537 MBL2 4153 broad.mit.edu 37 10 54531391 54531391 + Missense_Mutation SNP G T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr10:54531391G>T uc001jjt.2 - 1 70 c.5C>A c.(4-6)TCC>TAC p.S2Y NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 2 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 TGGAAACAGGGACATGGTCCT 0.502 PCDH15 65217 broad.mit.edu 37 10 55839114 55839114 + Missense_Mutation SNP C G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr10:55839114C>G uc001jju.1 - 17 2463 c.2068G>C c.(2068-2070)GCT>CCT p.A690P PCDH15_uc010qhq.1_Missense_Mutation_p.A695P|PCDH15_uc010qhr.1_Missense_Mutation_p.A690P|PCDH15_uc010qhs.1_Missense_Mutation_p.A702P|PCDH15_uc010qht.1_Missense_Mutation_p.A697P|PCDH15_uc010qhu.1_Missense_Mutation_p.A690P|PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc010qhv.1_Missense_Mutation_p.A690P|PCDH15_uc010qhw.1_Missense_Mutation_p.A653P|PCDH15_uc010qhx.1_Missense_Mutation_p.A619P|PCDH15_uc010qhy.1_Missense_Mutation_p.A695P|PCDH15_uc010qhz.1_Missense_Mutation_p.A690P|PCDH15_uc010qia.1_Missense_Mutation_p.A668P|PCDH15_uc010qib.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.2_Missense_Mutation_p.A690P NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 690 Cadherin 6.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CCATCTGAAGCTGTGATGATC 0.433 HNSCC(58;0.16) MGMT 4255 broad.mit.edu 37 10 131506185 131506185 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr10:131506185C>T uc001lkh.2 + 3 271 c.245C>T c.(244-246)GCG>GTG p.A82V NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 51 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GCCCCCGCTGCGGTTCTCGGA 0.602 Direct_reversal_of_damage PDE3B 5140 broad.mit.edu 37 11 14853295 14853295 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:14853295G>A uc001mln.2 + 9 2419 c.2066G>A c.(2065-2067)GGA>GAA p.G689E PDE3B_uc010rcr.1_Missense_Mutation_p.G638E NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 689 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 GAAAAGATGGGAGAGAAATCA 0.294 HIPK3 10114 broad.mit.edu 37 11 33375092 33375092 + Missense_Mutation SNP T C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:33375092T>C uc001mul.1 + 17 3896 c.3626T>C c.(3625-3627)CTC>CCC p.L1209P HIPK3_uc001mum.1_Missense_Mutation_p.L1188P|HIPK3_uc009yjv.1_Missense_Mutation_p.L1188P NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 1209 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 CCAACAAAACTCAGCCAGTAT 0.363 OR5AS1 219447 broad.mit.edu 37 11 55798090 55798090 + Missense_Mutation SNP T G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:55798090T>G uc010riw.1 + 1 196 c.196T>G c.(196-198)TTA>GTA p.L66V NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TCTTAGCAACTTATCTTTCTT 0.348 OR5M9 390162 broad.mit.edu 37 11 56229973 56229973 + Missense_Mutation SNP G C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:56229973G>C uc010rjj.1 - 1 905 c.905C>G c.(904-906)GCA>GGA p.A302G NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) CTTGGTGATTGCTTTGTTGAC 0.378 DTX4 23220 broad.mit.edu 37 11 58949878 58949878 + Missense_Mutation SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:58949878A>G uc001nns.2 + 2 1135 c.878A>G c.(877-879)AAT>AGT p.N293S DTX4_uc001nnr.2_Missense_Mutation_p.N187S NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 293 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) GCCACCTTGAATCGTACCAAC 0.612 PCNXL3 399909 broad.mit.edu 37 11 65402835 65402835 + Silent SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:65402835G>A uc001oey.2 + 31 5100 c.5100G>A c.(5098-5100)GCG>GCA p.A1700A PCNXL3_uc001oez.2_Silent_p.A587A NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1700 integral to membrane 0 CCCTGCTGGCGCTGCGCCATG 0.632 CACNA1C 775 broad.mit.edu 37 12 2716205 2716205 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr12:2716205C>T uc009zdu.1 + 27 3638 c.3325C>T c.(3325-3327)CGC>TGC p.R1109C CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R825C NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1109 Extracellular (Potential).|III.|Dihydropyridine binding (By similarity). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CATCCAACCCCGCAGCTGGGA 0.542 TMTC1 83857 broad.mit.edu 37 12 29669420 29669420 + Splice_Site SNP C A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr12:29669420C>A uc001rjb.2 - 15 2320 c.1846_splice c.e15-1 p.A616_splice TMTC1_uc001riz.2_Splice_Site_p.A373_splice|TMTC1_uc001rja.2_Splice_Site_p.A460_splice|TMTC1_uc001riy.2_Splice_Site_p.A69_splice NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AAACCTGAGCCTACAAAACCA 0.453 ABCD2 225 broad.mit.edu 37 12 40001468 40001468 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr12:40001468G>A uc001rmb.2 - 3 1595 c.1169C>T c.(1168-1170)ACC>ATC p.T390I NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 390 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 TCGAGCAGTGGTAAAGGCTTC 0.323 PCDH20 64881 broad.mit.edu 37 13 61985826 61985826 + Silent SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr13:61985826G>A uc001vid.3 - 2 2770 c.2406C>T c.(2404-2406)GGC>GGT p.G802G PCDH20_uc010thj.1_Silent_p.G802G NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 775 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AAGTAATGTTGCCAGTTTTAG 0.488 LOC647288 647288 broad.mit.edu 37 13 75814288 75814288 + Silent SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr13:75814288A>G uc010ths.1 - 1 230 c.189T>C c.(187-189)TTT>TTC p.F63F NR_027466 Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327). 0 TAACCGATCTAAAACTTCTCC 0.378 PCID2 55795 broad.mit.edu 37 13 113854813 113854813 + Silent SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr13:113854813G>A uc010tju.1 - 2 135 c.54C>T c.(52-54)GAC>GAT p.D18D PCID2_uc010tjv.1_Silent_p.D18D|PCID2_uc010tjw.1_Silent_p.D18D|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 18 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) CATCTCTGCTGTCGATGGCTT 0.418 AHNAK2 113146 broad.mit.edu 37 14 105404844 105404844 + Nonsense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr14:105404844C>T uc010axc.1 - 7 17064 c.16944G>A c.(16942-16944)TGG>TGA p.W5648* AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548* NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5648 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTTTGGAAGCCAAAACCAGA 0.478 EIF3J 8669 broad.mit.edu 37 15 44829531 44829532 + Frame_Shift_Ins INS - T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr15:44829531_44829532insT uc001ztv.2 + 2 180_181 c.53_54insT c.(52-54)GCTfs p.A18fs uc001ztu.2_5'Flank|EIF3J_uc010ueg.1_Frame_Shift_Ins_p.A18fs|EIF3J_uc001ztw.2_Frame_Shift_Ins_p.A18fs NM_003758 NP_003749 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, 18 Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity 0 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GACGCCGACGCTTTCTCCGTGG 0.594 CEP152 22995 broad.mit.edu 37 15 49054660 49054660 + Silent SNP T G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr15:49054660T>G uc001zwy.2 - 18 2524 c.2490A>C c.(2488-2490)ATA>ATC p.I830I CEP152_uc001zwz.2_Silent_p.I830I|CEP152_uc001zxa.1_Silent_p.I737I NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 830 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CCTTGATGGCTATGTCCTTCT 0.358 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 HYDIN 54768 broad.mit.edu 37 16 70913364 70913364 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr16:70913364C>T uc002ezr.2 - 62 10518 c.10390G>A c.(10390-10392)GTG>ATG p.V3464M NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3465 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ATGTCAAACACGAGGCCTCGG 0.567 SLC4A1 6521 broad.mit.edu 37 17 42330498 42330498 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr17:42330498C>T uc002igf.3 - 17 2448 c.2299G>A c.(2299-2301)GCT>ACT p.A767T NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 767 Helical; (Potential).|Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) ACAAGCACAGCGACCAGGAGT 0.637 FBF1 85302 broad.mit.edu 37 17 73914257 73914257 + Silent SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr17:73914257G>A uc002jqc.2 - 20 2461 c.2187C>T c.(2185-2187)GCC>GCT p.A729A FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.A720A|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Silent_p.A40A NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 729 0 TGTGGGAGGTGGCACTGGTGG 0.662 AANAT 15 broad.mit.edu 37 17 74465812 74465812 + Silent SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr17:74465812C>T uc002jro.2 + 4 618 c.384C>T c.(382-384)CGC>CGT p.R128R AANAT_uc010wte.1_RNA NM_001088 NP_001079 Q16613 SNAT_HUMAN arylalkylamine N-acetyltransferase 128 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity 0 CCGTGCACCGCGCCTTCCGGC 0.701 EPB41L3 23136 broad.mit.edu 37 18 5489008 5489008 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr18:5489008G>A uc002kmt.1 - 2 261 c.175C>T c.(175-177)CGG>TGG p.R59W EPB41L3_uc010wzh.1_Missense_Mutation_p.R59W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 59 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 ACCTCCCTCCGCACCGGGGTG 0.562 LAMA3 3909 broad.mit.edu 37 18 21338466 21338466 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr18:21338466G>A uc002kuq.2 + 7 1140 c.1054G>A c.(1054-1056)GAG>AAG p.E352K LAMA3_uc010dlv.1_Missense_Mutation_p.E352K|LAMA3_uc002kur.2_Missense_Mutation_p.E352K NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 352 Laminin EGF-like 1.|Domain V. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAGAGCCACGAGTGTGAAGG 0.647 TAF4B 6875 broad.mit.edu 37 18 23873445 23873445 + Silent SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr18:23873445A>G uc002kvu.3 + 9 2271 c.1782A>G c.(1780-1782)GCA>GCG p.A594A TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.A599A NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 594 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) CACTTCAAGCATCTCCTACTC 0.269 BEST2 54831 broad.mit.edu 37 19 12864093 12864093 + Nonsense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:12864093C>T uc002mux.2 + 2 172 c.172C>T c.(172-174)CAG>TAG p.Q58* NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN vitelliform macular dystrophy 2-like 1 58 Extracellular (Potential). membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity ovary(1)|pancreas(1) 2 GACCGAAGGGCAGAAGCGCTA 0.567 OR7A10 390892 broad.mit.edu 37 19 14951796 14951796 + Missense_Mutation SNP C A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:14951796C>A uc002mzx.1 - 1 894 c.894G>T c.(892-894)AAG>AAT p.K298N NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) TCATAGCACCCTTTATGTGTT 0.468 MAP1S 55201 broad.mit.edu 37 19 17838511 17838511 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:17838511G>A uc002nhe.1 + 5 2327 c.2318G>A c.(2317-2319)CGG>CAG p.R773Q MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R21Q|MAP1S_uc010xpv.1_Missense_Mutation_p.R747Q NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 773 Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 TCACAGGAACGGGCAGGTGGG 0.687 CEACAM5 1048 broad.mit.edu 37 19 42218934 42218934 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:42218934G>A uc002ork.2 + 3 590 c.469G>A c.(469-471)GTG>ATG p.V157M CEACAM5_uc010ehz.1_Missense_Mutation_p.V157M|CEACAM5_uc002orj.1_Missense_Mutation_p.V157M|CEACAM5_uc002orl.2_Missense_Mutation_p.V157M NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 157 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CTCCAAACCCGTGGAGGACAA 0.562 FUT1 2523 broad.mit.edu 37 19 49253828 49253828 + Silent SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:49253828G>A uc002pkk.2 - 4 1686 c.711C>T c.(709-711)GGC>GGT p.G237G NM_000148 NP_000139 P19526 FUT1_HUMAN fucosyltransferase 1 237 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity ovary(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) AGGCGCTGTCGCCCACCACAC 0.657 NLRP12 91662 broad.mit.edu 37 19 54314476 54314476 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:54314476C>T uc002qch.3 - 3 657 c.437G>A c.(436-438)CGC>CAC p.R146H NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R146H|NLRP12_uc002qcj.3_Missense_Mutation_p.R146H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R146H NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 146 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTCCCCTAGGCGCGCATTGCG 0.567 SAPS1 22870 broad.mit.edu 37 19 55742009 55742009 + Missense_Mutation SNP G T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:55742009G>T uc002qjw.3 - 23 2856 c.2614C>A c.(2614-2616)CCG>ACG p.P872T TMEM86B_uc002qjt.2_5'Flank|TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjv.2_Missense_Mutation_p.P934T NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 872 Pro-rich. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GGCCCTTCCGGGGCAGAGCCA 0.677 SLC9A4 389015 broad.mit.edu 37 2 103095456 103095456 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:103095456G>A uc002tbz.3 + 2 872 c.415G>A c.(415-417)GTT>ATT p.V139I NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 139 Helical; Name=D/M4; (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GCCACCCATCGTTCTGGAGGG 0.617 ANAPC1 64682 broad.mit.edu 37 2 112541977 112541977 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:112541977C>T uc002thi.2 - 41 5165 c.4918G>A c.(4918-4920)GGC>AGC p.G1640S NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1640 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 CACTGAGTGCCCTTTACAAAT 0.458 TTN 7273 broad.mit.edu 37 2 179542530 179542530 + Missense_Mutation SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:179542530A>G uc010zfg.1 - 143 30601 c.30377T>C c.(30376-30378)GTT>GCT p.V10126A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11053 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCAGGTAGAACTTCCTCTTC 0.448 ALPI 248 broad.mit.edu 37 2 233323014 233323014 + Missense_Mutation SNP C T T rs146257849 byFrequency TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:233323014C>T uc002vst.3 + 9 1156 c.1079C>T c.(1078-1080)GCG>GTG p.A360V ALPI_uc002vsu.3_Missense_Mutation_p.A271V NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 360 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) ATTGAGAGGGCGGGCCAGCTC 0.627 PDCD1 5133 broad.mit.edu 37 2 242800933 242800933 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:242800933G>A uc002wcq.3 - 1 126 c.58C>T c.(58-60)CGG>TGG p.R20W PDCD1_uc010fzt.2_RNA NM_005018 NP_005009 Q15116 PDCD1_HUMAN programmed cell death 1 precursor 20 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity ovary(1) 1 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) CATCCTGGCCGCCAGCCCAGT 0.677 C20orf196 149840 broad.mit.edu 37 20 5843987 5843987 + Missense_Mutation SNP G T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr20:5843987G>T uc002wmf.2 + 3 583 c.496G>T c.(496-498)GAC>TAC p.D166Y NM_152504 NP_689717 Q8IYI0 CT196_HUMAN hypothetical protein LOC149840 166 0 GCATTCCAGGGACACCCACTT 0.512 DLGAP4 22839 broad.mit.edu 37 20 35060659 35060659 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr20:35060659G>A uc002xff.2 + 3 974 c.539G>A c.(538-540)CGG>CAG p.R180Q DLGAP4_uc010zvp.1_Missense_Mutation_p.R180Q NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 180 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GGCAAGGGCCGGAGGGCCAAA 0.647 NFATC2 4773 broad.mit.edu 37 20 50133367 50133367 + Nonsense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr20:50133367G>A uc002xwd.2 - 3 1508 c.1288C>T c.(1288-1290)CGA>TGA p.R430* NFATC2_uc002xwc.2_Nonsense_Mutation_p.R430*|NFATC2_uc010zyv.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyw.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyx.1_Nonsense_Mutation_p.R410*|NFATC2_uc010zyy.1_Nonsense_Mutation_p.R211*|NFATC2_uc010zyz.1_Nonsense_Mutation_p.R211*|NFATC2_uc002xwe.2_Nonsense_Mutation_p.R410* NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 430 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) ACAGCCCCTCGGCTGCCTTCT 0.557 COL20A1 57642 broad.mit.edu 37 20 61943349 61943349 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr20:61943349G>A uc011aau.1 + 14 1845 c.1745G>A c.(1744-1746)AGG>AAG p.R582K COL20A1_uc011aav.1_Missense_Mutation_p.R403K NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 582 Fibronectin type-III 4. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GGTGCCCCGAGGCCTGTGCGC 0.682 KRTAP10-11 386678 broad.mit.edu 37 21 46066409 46066409 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr21:46066409G>A uc002zfr.3 + 1 79 c.34G>A c.(34-36)GCT>ACT p.A12T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198692 NP_941965 P60412 KR10B_HUMAN keratin associated protein 10-11 12 keratin filament ovary(1) 1 CTGCTCCAGCGCTTACTCCGA 0.582 SLC19A1 6573 broad.mit.edu 37 21 46950811 46950811 + Missense_Mutation SNP C T T rs142899279 TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr21:46950811C>T uc002zhl.1 - 4 1143 c.1024G>A c.(1024-1026)GTC>ATC p.V342I SLC19A1_uc010gpy.1_Missense_Mutation_p.V342I|SLC19A1_uc011aft.1_Missense_Mutation_p.V302I|SLC19A1_uc002zhm.1_Missense_Mutation_p.V342I|SLC19A1_uc010gpz.1_Missense_Mutation_p.V221I NM_194255 NP_919231 P41440 S19A1_HUMAN solute carrier family 19 member 1 342 Helical; (Probable). folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity 0 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GTGGCCGTGACGCCCGCGATG 0.697 CCT8L2 150160 broad.mit.edu 37 22 17073274 17073274 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr22:17073274C>T uc002zlp.1 - 1 427 c.167G>A c.(166-168)CGG>CAG p.R56Q NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 56 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GAACTTCTGCCGGCCGTGGGG 0.642 GNB1L 54584 broad.mit.edu 37 22 19799872 19799872 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr22:19799872C>T uc002zqe.1 - 4 747 c.353G>A c.(352-354)AGC>AAC p.S118N GNB1L_uc002zqd.1_5'UTR|GNB1L_uc002zqf.1_Missense_Mutation_p.S118N NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 118 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) CAGGATGCTGCTCCGGCAGAA 0.692 BPIL2 254240 broad.mit.edu 37 22 32833790 32833790 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr22:32833790C>T uc003amn.2 - 7 704 c.704G>A c.(703-705)AGT>AAT p.S235N BPIL2_uc010gwo.2_Missense_Mutation_p.S49N|BPIL2_uc011amb.1_5'UTR NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 235 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 TTCTGGAGAACTGATTAGGGA 0.353 SYN3 8224 broad.mit.edu 37 22 33402361 33402361 + Missense_Mutation SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr22:33402361A>G uc003amx.2 - 1 446 c.287T>C c.(286-288)GTG>GCG p.V96A SYN3_uc003amy.2_Missense_Mutation_p.V96A|SYN3_uc003amz.2_Missense_Mutation_p.V96A NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 96 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 ATCATCGATCACCAACAGGAT 0.547 ATP2B2 491 broad.mit.edu 37 3 10413514 10413514 + Silent SNP G A A rs148841263 byFrequency TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:10413514G>A uc003bvt.2 - 12 2077 c.1638C>T c.(1636-1638)AGC>AGT p.S546S ATP2B2_uc003bvv.2_Silent_p.S501S|ATP2B2_uc003bvw.2_Silent_p.S501S|ATP2B2_uc010hdo.2_Silent_p.S251S NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 546 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TGGTGTAGGCGCTGTTGATGG 0.547 NR2C2 7182 broad.mit.edu 37 3 15070193 15070193 + Missense_Mutation SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:15070193A>G uc003bzj.3 + 8 1116 c.899A>G c.(898-900)CAG>CGG p.Q300R NR2C2_uc003bzi.2_Missense_Mutation_p.Q319R NM_003298 NP_003289 P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 300 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 TCAGAAATCCAGCCAGAGGAC 0.542 LRRC3B 116135 broad.mit.edu 37 3 26751737 26751737 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:26751737G>A uc003cdp.2 + 2 1163 c.574G>A c.(574-576)GCT>ACT p.A192T LRRC3B_uc003cdq.2_Missense_Mutation_p.A192T NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 192 LRRCT. integral to membrane pancreas(2)|ovary(1)|skin(1) 4 TGCCAACGACGCTGACCTTTG 0.468 MST1R 4486 broad.mit.edu 37 3 49940194 49940194 + Silent SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:49940194A>G uc003cxy.3 - 1 1113 c.849T>C c.(847-849)CTT>CTC p.L283L MST1R_uc011bdd.1_Silent_p.L283L|MST1R_uc011bde.1_Silent_p.L283L|MST1R_uc011bdf.1_Silent_p.L283L|MST1R_uc011bdg.1_Silent_p.L283L NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 283 Extracellular (Potential).|Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAGTGGCGCTAAGCCGTGCCA 0.622 ITIH4 3700 broad.mit.edu 37 3 52851043 52851043 + Silent SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:52851043C>T uc003dfz.2 - 21 2364 c.2328G>A c.(2326-2328)GAG>GAA p.E776E ITIH4_uc011bel.1_Silent_p.E490E|ITIH4_uc003dfy.2_Silent_p.E571E|ITIH4_uc011bem.1_Silent_p.E781E|ITIH4_uc011ben.1_Silent_p.E746E NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 776 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACCCAGCCTTCTCCCTCTCAT 0.592 ARL6 84100 broad.mit.edu 37 3 97506846 97506846 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:97506846G>A uc003drv.2 + 7 675 c.362G>A c.(361-363)CGT>CAT p.R121H ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.R121H|ARL6_uc010hoy.2_Missense_Mutation_p.R121H NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 121 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding 0 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) ATTAAACACCGTCGAATTCCA 0.323 Bardet-Biedl_syndrome OR5K1 26339 broad.mit.edu 37 3 98189167 98189167 + Silent SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:98189167A>G uc003dsm.2 + 1 747 c.747A>G c.(745-747)TCA>TCG p.S249S NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TGTCAGTTTCATTATTCTATG 0.333 ST3GAL6 10402 broad.mit.edu 37 3 98507190 98507190 + Missense_Mutation SNP G C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:98507190G>C uc003dsz.2 + 8 875 c.639G>C c.(637-639)AAG>AAC p.K213N ST3GAL6_uc003dsy.2_Missense_Mutation_p.K127N|ST3GAL6_uc003dta.2_Missense_Mutation_p.K95N|ST3GAL6_uc003dtb.2_Missense_Mutation_p.K69N|ST3GAL6_uc003dtc.2_Missense_Mutation_p.K213N|ST3GAL6_uc010hpd.2_Missense_Mutation_p.K266N NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 213 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 GTTTTTGGAAGAAACCAGCCT 0.323 MYLK 4638 broad.mit.edu 37 3 123428617 123428617 + Missense_Mutation SNP G C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:123428617G>C uc003ego.2 - 14 2210 c.1928C>G c.(1927-1929)ACT>AGT p.T643S MYLK_uc011bjw.1_Missense_Mutation_p.T643S|MYLK_uc003egp.2_Missense_Mutation_p.T574S|MYLK_uc003egq.2_Missense_Mutation_p.T643S|MYLK_uc003egr.2_Missense_Mutation_p.T574S|MYLK_uc003egs.2_Missense_Mutation_p.T467S NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 643 Ig-like C2-type 5. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CACTTGGACAGTCATAGTGAC 0.532 TRIM42 287015 broad.mit.edu 37 3 140397090 140397090 + Missense_Mutation SNP G A A rs116143762 by1000genomes TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:140397090G>A uc003eto.1 + 1 210 c.19G>A c.(19-21)GTT>ATT p.V7I NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 7 Cys-rich. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 TGCTATGTGCGTTTGCTGTCC 0.507 ZIC4 84107 broad.mit.edu 37 3 147114065 147114065 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:147114065C>T uc003ewd.1 - 3 535 c.262G>A c.(262-264)GCC>ACC p.A88T ZIC4_uc003ewc.1_Missense_Mutation_p.A18T|ZIC4_uc011bno.1_Missense_Mutation_p.A138T NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 88 Poly-Ala. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GCTGCCAGGGCGTCGCTGCGG 0.701 VPS8 23355 broad.mit.edu 37 3 184571960 184571960 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:184571960G>A uc003fpb.1 + 12 1199 c.1028G>A c.(1027-1029)CGG>CAG p.R343Q VPS8_uc010hyd.1_Missense_Mutation_p.R343Q NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 345 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) CCCTATGGCCGGGTGAGTACG 0.413 SDHAP2 727956 broad.mit.edu 37 3 195410687 195410687 + Missense_Mutation SNP T A A rs6583274 by1000genomes TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:195410687T>A uc003fuw.2 + 13 1778 c.584T>A c.(583-585)GTG>GAG p.V195E SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 CCCTTTGAGGTGCACTGGAGG 0.567 MUC4 4585 broad.mit.edu 37 3 195505849 195505849 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:195505849G>A uc011bto.1 - 3 12678 c.12218C>T c.(12217-12219)GCA>GTA p.A4073V MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATGCTGAGGAAGT 0.592 TLR6 10333 broad.mit.edu 37 4 38830788 38830788 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr4:38830788C>T uc003gtm.2 - 1 373 c.307G>A c.(307-309)GAA>AAA p.E103K TLR6_uc010ifg.1_Missense_Mutation_p.E103K NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 103 LRR 3.|Extracellular (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 TCCAAATATTCTAAATCCTGG 0.363 PRDM8 56978 broad.mit.edu 37 4 81123201 81123201 + Silent SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr4:81123201C>T uc010ijo.2 + 8 1424 c.585C>T c.(583-585)GGC>GGT p.G195G PRDM8_uc003hmb.3_Silent_p.G195G|PRDM8_uc003hmc.3_Silent_p.G195G NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 195 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AACAAggcggcggcgtgggca 0.343 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HHIP 64399 broad.mit.edu 37 4 145580881 145580881 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr4:145580881G>A uc003ijs.1 + 4 1377 c.722G>A c.(721-723)CGT>CAT p.R241H HHIP_uc003ijr.1_Missense_Mutation_p.R241H NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 241 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GGCTCGCAACGTCTCTTCATT 0.453 HCN1 348980 broad.mit.edu 37 5 45262309 45262309 + Missense_Mutation SNP T A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr5:45262309T>A uc003jok.2 - 8 2412 c.2387A>T c.(2386-2388)GAG>GTG p.E796V NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 796 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AGTGGACACCTCATGGGGCAG 0.632 PJA2 9867 broad.mit.edu 37 5 108680493 108680493 + Missense_Mutation SNP C A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr5:108680493C>A uc003kos.3 - 8 2012 c.1792G>T c.(1792-1794)GCA>TCA p.A598S NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 598 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) ACATCCACTGCAAGAGACTCT 0.408 GNPDA1 10007 broad.mit.edu 37 5 141385836 141385838 + In_Frame_Del DEL GAA - - TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr5:141385836_141385838delGAA uc003lmf.3 - 3 1039_1041 c.280_282delTTC c.(280-282)TTCdel p.F94del GNPDA1_uc003lmg.3_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.2_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.3_In_Frame_Del_p.F60del NM_005471 NP_005462 P46926 GNPI1_HUMAN glucosamine-6-phosphate deaminase 1 94 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity 0 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATGTGCTTGAAGAAGTTGTTC 0.527 CPEB4 80315 broad.mit.edu 37 5 173317554 173317554 + Frame_Shift_Del DEL A - - TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr5:173317554delA uc003mcs.3 + 1 2224 c.818delA c.(817-819)CATfs p.H273fs CPEB4_uc010jju.1_Frame_Shift_Del_p.H273fs|CPEB4_uc010jjv.2_Frame_Shift_Del_p.H273fs|CPEB4_uc011dfg.1_Frame_Shift_Del_p.H273fs|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding 273 nucleotide binding|RNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGCTGCCTCATTTGGCGAAT 0.557 PRSS16 10279 broad.mit.edu 37 6 27220721 27220721 + Silent SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:27220721C>T uc003nja.2 + 9 1155 c.1143C>T c.(1141-1143)TTC>TTT p.F381F PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Silent_p.F124F|PRSS16_uc010jqq.1_Silent_p.F158F|PRSS16_uc010jqr.1_Silent_p.F132F|PRSS16_uc003njc.1_RNA|PRSS16_uc003njd.2_Intron NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 381 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 GTACCGAGTTCGGCTTCTGTA 0.507 LYPLA2P1 653639 broad.mit.edu 37 6 33333916 33333916 + Missense_Mutation SNP G T T rs211449 TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:33333916G>T uc003shx.2 - 1 224 c.90C>A c.(88-90)GAC>GAA p.D30E NR_001444 SubName: Full=Lysophospholipase II; Flags: Fragment; 0 TGTGCCCTGTGTCTCCAAGTC 0.562 UHRF1BP1 54887 broad.mit.edu 37 6 34838669 34838669 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:34838669C>T uc003oju.3 + 18 3991 c.3757C>T c.(3757-3759)CAC>TAC p.H1253Y UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1253 ovary(3) 3 GAAGACTGGCCACATCAGGCC 0.428 EEF1A1 1915 broad.mit.edu 37 6 74227627 74227627 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:74227627G>A uc003phi.2 - 7 1332 c.1295C>T c.(1294-1296)ACA>ATA p.T432I EEF1A1_uc003phd.2_Missense_Mutation_p.T157I|EEF1A1_uc003phe.2_Missense_Mutation_p.T422I|EEF1A1_uc003phf.2_Missense_Mutation_p.T425I|EEF1A1_uc003phg.2_3'UTR|EEF1A1_uc003phh.2_Missense_Mutation_p.T278I|EEF1A1_uc003phj.2_Missense_Mutation_p.T432I|EEF1A1_uc003phk.2_Missense_Mutation_p.T432I|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 432 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 CACCGCAACTGTCTGTCTCAT 0.403 OREG0003893 type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay TMEM30A 55754 broad.mit.edu 37 6 75968538 75968538 + Missense_Mutation SNP G C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:75968538G>C uc003phw.2 - 6 1128 c.850C>G c.(850-852)CCA>GCA p.P284A TMEM30A_uc003phx.2_Missense_Mutation_p.P248A NM_018247 NP_060717 Q9NV96 CC50A_HUMAN transmembrane protein 30A isoform 1 284 integral to membrane 0 GGTAATGTTGGATGTAAATCA 0.388 TTK 7272 broad.mit.edu 37 6 80746263 80746263 + Missense_Mutation SNP G C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:80746263G>C uc003pjc.2 + 17 2070 c.1996G>C c.(1996-1998)GGG>CGG p.G666R TTK_uc003pjb.3_Missense_Mutation_p.G665R NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 666 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AATTGATTTTGGGATTGCAAA 0.323 MYB 4602 broad.mit.edu 37 6 135514998 135514998 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:135514998C>T uc003qfc.2 + 7 984 c.785C>T c.(784-786)CCT>CTT p.P262L MYB_uc003qfh.2_Missense_Mutation_p.P262L|MYB_uc003qfi.2_Missense_Mutation_p.P262L|MYB_uc010kgi.2_Missense_Mutation_p.P262L|MYB_uc003qfq.2_Missense_Mutation_p.P262L|MYB_uc010kgj.2_Missense_Mutation_p.P262L|MYB_uc003qfo.2_Missense_Mutation_p.P262L|MYB_uc003qfu.2_Missense_Mutation_p.P262L|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.P74L|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.P262L|MYB_uc003qgd.1_Missense_Mutation_p.P74L|MYB_uc003qge.1_5'Flank NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 262 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GTTCCATACCCTGTAGCGTTA 0.453 T NFIB adenoid cystic carcinoma EGFR 1956 broad.mit.edu 37 7 55221822 55221823 + Missense_Mutation DNP CC TT TT rs149840192 TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr7:55221822_55221823CC>TT uc003tqk.2 + 7 1112_1113 c.866_867CC>TT c.(865-867)GCC>GTT p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTGA 0.594 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) GPR85 54329 broad.mit.edu 37 7 112724771 112724771 + Silent SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr7:112724771C>T uc010ljv.2 - 2 523 c.6G>A c.(4-6)GCG>GCA p.A2A GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 2 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 GGCTATAGTTCGCCATAGATG 0.403 DENND2A 27147 broad.mit.edu 37 7 140267052 140267052 + Missense_Mutation SNP T C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr7:140267052T>C uc010lnj.2 - 7 1758 c.1613A>G c.(1612-1614)AAC>AGC p.N538S DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.N538S|DENND2A_uc003vvw.2_Missense_Mutation_p.N538S|DENND2A_uc003vvx.2_Missense_Mutation_p.N538S NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 538 ovary(3)|breast(1) 4 Melanoma(164;0.00956) GGACTTCACGTTGACCAGGCG 0.383 GBX1 2636 broad.mit.edu 37 7 150845924 150845924 + Missense_Mutation SNP A T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr7:150845924A>T uc011kvg.1 - 2 1076 c.844T>A c.(844-846)TGC>AGC p.C282S NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 282 Homeobox. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TATTTCTTGCAATGAAATTCC 0.557 RPS20 6224 broad.mit.edu 37 8 56985787 56985787 + Silent SNP A T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr8:56985787A>T uc003xsn.2 - 4 420 c.222T>A c.(220-222)TCT>TCA p.S74S RPS20_uc003xsm.2_Silent_p.S74S NM_001023 NP_001014 P60866 RS20_HUMAN ribosomal protein S20 isoform 2 74 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) CCCACGTCTTAGAACCTTCAC 0.388 ARFGEF1 10565 broad.mit.edu 37 8 68140324 68140327 + Frame_Shift_Del DEL TAAT - - TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr8:68140324_68140327delTAAT uc003xxo.1 - 25 3852_3855 c.3462_3465delATTA c.(3460-3465)GAATTAfs p.E1154fs ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.E137fs NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1154_1155 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCGTGGAAAGTAATTCATCCATAG 0.343 EIF2C2 27161 broad.mit.edu 37 8 141570507 141570507 + Silent SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr8:141570507C>T uc003yvn.2 - 5 661 c.621G>A c.(619-621)CGG>CGA p.R207R EIF2C2_uc010men.2_Silent_p.R130R|EIF2C2_uc010meo.2_Silent_p.R207R NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 207 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) AGAGAGAAGGCCGGACGGACT 0.622 IFNA10 3446 broad.mit.edu 37 9 21206995 21206995 + Silent SNP A G G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr9:21206995A>G uc003zoq.1 - 1 148 c.102T>C c.(100-102)AAT>AAC p.N34N IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 34 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) AGGCCCTCCTATTACCCAGGC 0.512 KIAA0368 23392 broad.mit.edu 37 9 114188086 114188086 + Missense_Mutation SNP C T T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr9:114188086C>T uc004bfe.1 - 12 1607 c.1607G>A c.(1606-1608)GGT>GAT p.G536D KIAA0368_uc010muc.1_Missense_Mutation_p.G358D NM_001080398 NP_001073867 KIAA0368 protein 0 TGTATTTGTACCAAAAAGTCC 0.249 CDK5RAP2 55755 broad.mit.edu 37 9 123156840 123156840 + Missense_Mutation SNP A C C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr9:123156840A>C uc004bkf.2 - 36 5709 c.5528T>G c.(5527-5529)ATG>AGG p.M1843R CDK5RAP2_uc010mvi.2_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.2_Missense_Mutation_p.M1128R|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.M1764R|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lya.1_Missense_Mutation_p.M1108R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1843 Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CAAAAGCTTCATGGTGTTTTG 0.423 OR1J1 347168 broad.mit.edu 37 9 125239745 125239745 + Missense_Mutation SNP G A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr9:125239745G>A uc011lyu.1 - 1 461 c.461C>T c.(460-462)GCG>GTG p.A154V OR1J2_uc004bmj.1_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AAGAGCACACGCACAAGCGAT 0.542 PCDH11Y 83259 broad.mit.edu 37 Y 5605524 5605524 + Silent SNP C A A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chrY:5605524C>A uc004fqo.2 + 5 4298 c.3564C>A c.(3562-3564)CTC>CTA p.L1188L NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 1188 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 CCATTGTTCTCTGCCACAGCC 0.582