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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample UBE2J2 118424 broad.mit.edu 37 1 1203256 1203256 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:1203256C>T uc001adn.2 - 2 427 c.117G>A c.(115-117)TCG>TCA p.S39S UBE2J2_uc001adm.2_5'UTR|UBE2J2_uc001ado.2_Silent_p.S39S|UBE2J2_uc001adp.2_Silent_p.S39S|UBE2J2_uc001adq.2_5'UTR|UBE2J2_uc001adr.2_Intron|UBE2J2_uc001ads.2_5'UTR NM_194458 NP_919440 Q8N2K1 UB2J2_HUMAN ubiquitin conjugating enzyme E2, J2 isoform 3 39 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) CGAGAATATTCGAAGGGAGGG 0.637 NaN 0 0 0 0.020292 0 15 205 LRRC47 57470 broad.mit.edu 37 1 3703763 3703763 + Nonsense_Mutation SNP C C A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:3703763C>A uc001akx.1 - 2 755 c.727G>T c.(727-729)GAG>TAG p.E243* NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 243 LRR 7. translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) ACCATCTTCTCCAGGCGCTTG 0.622 NaN 1 0 6.94344e-10 0.006122 7.72835e-10 16 47 ATP13A2 23400 broad.mit.edu 37 1 17316492 17316492 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:17316492C>G uc001baa.2 - 22 2609 c.2419G>C c.(2419-2421)GAC>CAC p.D807H ATP13A2_uc001azz.1_5'UTR|ATP13A2_uc001bab.2_Missense_Mutation_p.D802H|ATP13A2_uc001bac.2_Intron NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 807 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GCAGCCTGGTCAGGATCCTGG 0.647 NaN 0 0 0 0.001984 0 7 17 LRRC41 10489 broad.mit.edu 37 1 46763283 46763283 + Nonsense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:46763283C>T uc001cpn.2 - 3 353 c.309G>A c.(307-309)TGG>TGA p.W103* LRRC41_uc010omb.1_Nonsense_Mutation_p.W103*|LRRC41_uc001cpo.1_Nonsense_Mutation_p.W103* NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 103 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) AGAGTCGGCGCCAGATGGCCT 0.458 NaN 0 0 0 0.010729 0 11 43 SLC5A9 200010 broad.mit.edu 37 1 48697274 48697274 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:48697274G>A uc001cro.2 + 6 720 c.668G>A c.(667-669)GGA>GAA p.G223E SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.G248E|SLC5A9_uc010omt.1_Missense_Mutation_p.G237E|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 223 Helical; (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 ATGGTAGGGGGAGCCCTGGTC 0.537 NaN 0 0 0 0.004482 0 9 23 ALG6 29929 broad.mit.edu 37 1 63902557 63902557 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:63902557C>G uc010oow.1 + 15 1695 c.1390C>G c.(1390-1392)CAG>GAG p.Q464E ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA|ALG6_uc010oox.1_Missense_Mutation_p.Q211E NM_013339 NP_037471 Q9Y672 ALG6_HUMAN dolichyl pyrophosphate Man9GlcNAc2 464 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity 0 GGATCCTCCTCAGAAACTACC 0.373 NaN 0 0 0 0.015359 0 31 126 LPHN2 23266 broad.mit.edu 37 1 82451025 82451025 + Nonsense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:82451025C>G uc001dit.3 + 20 3624 c.3443C>G c.(3442-3444)TCA>TGA p.S1148* LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.S1148*|LPHN2_uc001div.2_Nonsense_Mutation_p.S1148*|LPHN2_uc009wcd.2_Intron|LPHN2_uc001diw.2_Nonsense_Mutation_p.S732* NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1161 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATAGCACTTCAACACTTAAT 0.289 NaN 0 0 0 0.009096 0 4 13 COL24A1 255631 broad.mit.edu 37 1 86252137 86252137 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:86252137C>G uc001dlj.2 - 48 4001 c.3959G>C c.(3958-3960)AGA>ACA p.R1320T COL24A1_uc001dli.2_Missense_Mutation_p.R456T|COL24A1_uc010osd.1_Missense_Mutation_p.R620T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1320 Collagen-like 15. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TGGGCCGCCTCTGATGCCCTA 0.478 NaN 0 0 0 0.008291 0 11 34 HCN3 57657 broad.mit.edu 37 1 155252454 155252454 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:155252454C>T uc001fjz.1 + 2 539 c.531C>T c.(529-531)CTC>CTT p.L177L RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 177 Helical; Name=Segment S3; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGTTGACCTCATCTCTTCTA 0.607 NaN 0 0 0 0.016723 0 12 70 RUSC1 23623 broad.mit.edu 37 1 155292388 155292388 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:155292388C>G uc001fkj.2 + 2 1053 c.824C>G c.(823-825)TCT>TGT p.S275C RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S275C|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 275 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) AAATTCGACTCTGGTTGGAAA 0.428 NaN 0 0 0 0.00308 0 8 142 ATP1A4 480 broad.mit.edu 37 1 160156121 160156121 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:160156121G>A uc001fve.3 + 21 3504 c.3025G>A c.(3025-3027)GAA>AAA p.E1009K ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.E512K|ATP1A4_uc001fvh.2_Missense_Mutation_p.E145K NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 1009 Helical; (Potential). ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGTCTATGATGAAATCAGAAA 0.557 NaN 0 0 0 0.01441 0 52 214 MYOC 4653 broad.mit.edu 37 1 171621749 171621749 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:171621749C>T uc001ghu.2 - 1 25 c.3G>A c.(1-3)ATG>ATA p.M1I MYOC_uc010pmk.1_Missense_Mutation_p.M1I NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 1 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGAAGAACCTCATTGCAGAGG 0.612 NaN 0 0 0 0.00308 0 7 18 PLEKHA6 22874 broad.mit.edu 37 1 204228731 204228731 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:204228731C>G uc001hau.2 - 8 979 c.662G>C c.(661-663)AGA>ACA p.R221T PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 221 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CTCAGGCCTTCTCTCTGCCTT 0.637 NaN 0 0 0 0.004007 0 14 56 RYR2 6262 broad.mit.edu 37 1 237881784 237881784 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:237881784G>A uc001hyl.1 + 73 10637 c.10517G>A c.(10516-10518)CGA>CAA p.R3506Q RYR2_uc010pxz.1_Missense_Mutation_p.R461Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3506 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGAAGTACGAGATATAATC 0.333 NaN 0 0 0 0.004482 0 9 17 HNRNPU 3192 broad.mit.edu 37 1 245017797 245017797 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:245017797C>G uc001iaz.1 - 14 2651 c.2433G>C c.(2431-2433)TGG>TGC p.W811C HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.W535C|HNRNPU_uc001iba.1_Missense_Mutation_p.W792C NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 811 Gly-rich. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) GCTTCTGACCCCAGAATTGCT 0.328 NaN 0 0 0 0.016723 0 10 38 KIF26B 55083 broad.mit.edu 37 1 245809541 245809541 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:245809541C>T uc001ibf.1 + 10 2657 c.2217C>T c.(2215-2217)GTC>GTT p.V739V KIF26B_uc010pyq.1_Silent_p.V739V|KIF26B_uc001ibg.1_Silent_p.V357V|KIF26B_uc001ibh.1_5'UTR NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 739 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TGGGCAATGTCATCCTGGCTC 0.502 NaN 0 0 0 0.001168 0 6 30 ARHGAP12 94134 broad.mit.edu 37 10 32098165 32098165 + Silent SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr10:32098165G>A uc001ivz.1 - 17 2391 c.2121C>T c.(2119-2121)GTC>GTT p.V707V ARHGAP12_uc001ivy.1_Silent_p.V653V|ARHGAP12_uc009xls.2_Silent_p.V658V|ARHGAP12_uc001iwb.1_Silent_p.V700V|ARHGAP12_uc001iwc.1_Silent_p.V675V|ARHGAP12_uc009xlq.1_Silent_p.V628V|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'UTR NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 707 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) TACCATGATTGACTGCAAACC 0.343 NaN 0 0 0 0.009096 0 4 33 MAPK8 5599 broad.mit.edu 37 10 49633981 49633981 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr10:49633981G>C uc009xnz.2 + 8 963 c.739G>C c.(739-741)GAA>CAA p.E247Q MAPK8_uc001jgl.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgm.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgo.2_Missense_Mutation_p.E247Q|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.E247Q|MAPK8_uc010qgk.1_Missense_Mutation_p.E247Q|MAPK8_uc001jgp.2_Missense_Mutation_p.E247Q|MAPK8_uc001jgq.2_Missense_Mutation_p.E247Q NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 247 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding p.E247*(1) central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) ACCATGTCCTGAATTCATGAA 0.343 NaN 0 0 0 0.004482 0 7 45 MAPK8 5599 broad.mit.edu 37 10 49634089 49634089 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr10:49634089G>C uc009xnz.2 + 8 1071 c.847G>C c.(847-849)GAC>CAC p.D283H MAPK8_uc001jgl.2_Missense_Mutation_p.D283H|MAPK8_uc001jgm.2_Missense_Mutation_p.D283H|MAPK8_uc001jgo.2_Missense_Mutation_p.D283H|MAPK8_uc009xoa.2_Missense_Mutation_p.D207H|MAPK8_uc001jgn.2_Missense_Mutation_p.D283H|MAPK8_uc010qgk.1_Missense_Mutation_p.D283H|MAPK8_uc001jgp.2_Missense_Mutation_p.D283H|MAPK8_uc001jgq.2_Missense_Mutation_p.D283H NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 283 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TTTCCCAGCTGACTCAGAACA 0.378 NaN 0 0 0 0.001168 0 4 61 CDK1 983 broad.mit.edu 37 10 62553724 62553724 + Silent SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr10:62553724G>A uc001jld.2 + 8 1019 c.885G>A c.(883-885)AAG>AAA p.K295K CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Silent_p.K295K|CDK1_uc001jlg.2_Silent_p.K238K NM_001786 NP_001777 P06493 CDK1_HUMAN cell division cycle 2 isoform 1 295 activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 ATCAGATTAAGAAGATGTAGC 0.294 NaN 0 0 0 0.004482 0 7 34 TMEM26 219623 broad.mit.edu 37 10 63170341 63170341 + Silent SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr10:63170341G>A uc001jlo.2 - 6 1215 c.846C>T c.(844-846)ATC>ATT p.I282I TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 282 Helical; (Potential). integral to membrane 0 Prostate(12;0.0112) GCATCTGATTGATCACTTTGA 0.507 NaN 0 0 0 0.004482 0 7 16 ACTA2 59 broad.mit.edu 37 10 90697972 90697972 + Missense_Mutation SNP G G T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr10:90697972G>T uc001kfp.2 - 8 952 c.836C>A c.(835-837)ACC>AAC p.T279N STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.T234N|ACTA2_uc001kfq.2_Missense_Mutation_p.T279N|uc001kfo.1_RNA NM_001613 NP_001604 P62736 ACTA_HUMAN alpha 2 actin 279 response to virus cytosol ATP binding 0 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) GTTGTAGGTGGTTTCATGGAT 0.493 NaN 1 0 9.31168e-06 0.016723 9.93246e-06 12 86 GANAB 23193 broad.mit.edu 37 11 62393546 62393547 + Nonsense_Mutation DNP GG GG AA TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr11:62393546_62393547GG>AA uc001nub.2 - 23 2748_2749 c.2715_2716CC>TT c.(2713-2718)CTCCAG>CTTTAG p.Q906* GANAB_uc001ntz.2_Nonsense_Mutation_p.Q93*|GANAB_uc001nua.2_Nonsense_Mutation_p.Q928*|GANAB_uc001nuc.2_Nonsense_Mutation_p.Q809*|GANAB_uc010rma.1_Nonsense_Mutation_p.Q814*|GANAB_uc010rmb.1_Nonsense_Mutation_p.Q792* NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 906 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 CCTTTTGTCTGGAGTACCACAG 0.554 NaN 0 0 0 0.004672 0 11 356 ATL3 25923 broad.mit.edu 37 11 63403040 63403040 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr11:63403040C>G uc001nxk.1 - 10 1277 c.1001G>C c.(1000-1002)GGA>GCA p.G334A ATL3_uc010rms.1_Missense_Mutation_p.G316A|ATL3_uc010rmr.1_5'UTR NM_015459 NP_056274 Q6DD88 ATLA3_HUMAN atlastin 3 334 Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding pancreas(1) 1 CAGATCTTCTCCTTGATAAAT 0.303 NaN OREG0021036 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 50 FRMD8 83786 broad.mit.edu 37 11 65161533 65161533 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr11:65161533G>A uc001odu.3 + 5 569 c.377G>A c.(376-378)CGA>CAA p.R126Q FRMD8_uc009yqj.2_Missense_Mutation_p.R70Q|FRMD8_uc010rof.1_Missense_Mutation_p.R92Q NM_031904 NP_114110 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 126 FERM. cytoskeleton binding lung(1)|pancreas(1) 2 CTGCAGTTCCGAAGGAACGTG 0.672 NaN 0 0 0 0.016723 0 11 30 RNF169 254225 broad.mit.edu 37 11 74547657 74547657 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr11:74547657G>A uc001ovl.3 + 6 2022 c.2009G>A c.(2008-2010)CGA>CAA p.R670Q XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN ring finger protein 169 670 zinc ion binding ovary(1) 1 GAAGAAGACCGACAGTTGGCT 0.552 NaN 0 0 0 0.016723 0 13 57 C11orf30 56946 broad.mit.edu 37 11 76175124 76175124 + Silent SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr11:76175124G>A uc001oxl.2 + 7 974 c.831G>A c.(829-831)AAG>AAA p.K277K C11orf30_uc009yuj.1_Silent_p.K292K|C11orf30_uc010rsa.1_Silent_p.K227K|C11orf30_uc001oxm.2_Silent_p.K278K|C11orf30_uc010rsb.1_Silent_p.K292K|C11orf30_uc010rsc.1_Silent_p.K292K|C11orf30_uc001oxn.2_Silent_p.K278K|C11orf30_uc010rsd.1_Silent_p.K291K NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 277 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 CAACACAGAAGGTATGTGGTG 0.348 NaN 0 0 0 0.008291 0 9 30 ATM 472 broad.mit.edu 37 11 108115627 108115627 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr11:108115627C>T uc001pkb.1 + 7 1160 c.775C>T c.(775-777)CTT>TTT p.L259F ATM_uc009yxr.1_Missense_Mutation_p.L259F NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 259 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AGATGAAATTCTTCCCACTTT 0.338 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.009096 0 4 67 PKNOX2 63876 broad.mit.edu 37 11 125281675 125281675 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr11:125281675G>A uc001qbu.2 + 10 1164 c.850G>A c.(850-852)GAG>AAG p.E284K PKNOX2_uc010saz.1_Missense_Mutation_p.E255K|PKNOX2_uc010sba.1_Missense_Mutation_p.E255K|PKNOX2_uc010sbb.1_Missense_Mutation_p.E220K|PKNOX2_uc001qbv.2_Missense_Mutation_p.E49K NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 284 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 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) CCTGGACAATGAGGATAAGAA 0.527 NaN 0 0 0 0.020292 0 15 44 MRPS35 60488 broad.mit.edu 37 12 27877118 27877118 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr12:27877118G>C uc001rih.2 + 5 569 c.521G>C c.(520-522)AGA>ACA p.R174T MRPS35_uc001rii.2_Missense_Mutation_p.R174T NM_021821 NP_068593 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 precursor 174 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit 0 Lung SC(9;0.0873) GTAGTCTTAAGAGTAAGAGTT 0.289 NaN 0 0 0 0.004482 0 6 31 IPO8 10526 broad.mit.edu 37 12 30814158 30814158 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr12:30814158C>T uc001rjd.2 - 16 1968 c.1798G>A c.(1798-1800)GAA>AAA p.E600K IPO8_uc001rje.1_Missense_Mutation_p.E89K|IPO8_uc010sjt.1_Missense_Mutation_p.E395K NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 600 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCTTCAACTTCTTCATATTCA 0.338 NaN 0 0 0 0.004482 0 9 25 IRAK4 51135 broad.mit.edu 37 12 44166804 44166804 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr12:44166804G>C uc001rnu.3 + 6 710 c.580G>C c.(580-582)GAG>CAG p.E194Q IRAK4_uc001rnt.3_Missense_Mutation_p.E194Q|IRAK4_uc001rnx.3_Missense_Mutation_p.E70Q|IRAK4_uc001rny.3_Missense_Mutation_p.E70Q|IRAK4_uc010sky.1_Missense_Mutation_p.E70Q|IRAK4_uc001rnv.3_Missense_Mutation_p.E70Q|IRAK4_uc001rnw.3_Missense_Mutation_p.E70Q NM_001114182 NP_001107654 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 194 ATP (By similarity).|Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TAAAATGGGAGAGGGAGGATT 0.338 NaN 0 0 0 0.006214 0 9 30 MYBPC1 4604 broad.mit.edu 37 12 102043044 102043044 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr12:102043044G>C uc001tii.2 + 13 1230 c.1128G>C c.(1126-1128)AAG>AAC p.K376N MYBPC1_uc001tif.1_Missense_Mutation_p.K389N|MYBPC1_uc001tig.2_Missense_Mutation_p.K401N|MYBPC1_uc010svq.1_Missense_Mutation_p.K363N|MYBPC1_uc001tih.2_Missense_Mutation_p.K401N|MYBPC1_uc001tij.2_Missense_Mutation_p.K376N|MYBPC1_uc010svr.1_Missense_Mutation_p.K376N|MYBPC1_uc010svs.1_Missense_Mutation_p.K376N|MYBPC1_uc010svt.1_Missense_Mutation_p.K364N|MYBPC1_uc010svu.1_Missense_Mutation_p.K357N|MYBPC1_uc001tik.2_Missense_Mutation_p.K350N NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 376 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 TCAGGTTTAAGAATGGTGAAG 0.239 NaN 0 0 0 0.006214 0 10 36 HIP1R 9026 broad.mit.edu 37 12 123340550 123340550 + Silent SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr12:123340550G>A uc001udj.1 + 14 1211 c.1152G>A c.(1150-1152)CTG>CTA p.L384L HIP1R_uc001udg.1_Silent_p.L372L|HIP1R_uc001udi.1_Silent_p.L384L|HIP1R_uc001udk.1_5'UTR NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 384 Potential. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) TCGCGCAGCTGAAGAGCCAGG 0.692 NaN 0 0 0 0.009096 0 4 9 TUBA3C 7278 broad.mit.edu 37 13 19748219 19748219 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr13:19748219G>C uc009zzj.2 - 5 1186 c.1137C>G c.(1135-1137)AGC>AGG p.S379R NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 379 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCGTGGTGTTGCTCAGCATGC 0.622 NaN 0 0 0 0.012319 0 20 64 MYH7 4625 broad.mit.edu 37 14 23887584 23887584 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr14:23887584G>A uc001wjx.2 - 30 4110 c.4004C>T c.(4003-4005)TCG>TTG p.S1335L MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGCCGGGCCGACTGCAGTGC 0.657 NaN 0 0 0 0.003163 0 13 29 DAAM1 23002 broad.mit.edu 37 14 59819340 59819340 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr14:59819340G>C uc001xdz.1 + 19 2412 c.2287G>C c.(2287-2289)GAG>CAG p.E763Q DAAM1_uc001xea.1_Missense_Mutation_p.E753Q|DAAM1_uc001xec.1_5'Flank NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 763 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) GTTCCTTTTTGAGATGAGCCG 0.403 NaN 0 0 0 0.004482 0 8 18 NUMB 8650 broad.mit.edu 37 14 73743889 73743889 + Silent SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr14:73743889G>C uc001xny.1 - 13 1673 c.1353C>G c.(1351-1353)GTC>GTG p.V451V NUMB_uc010aro.1_Silent_p.V256V|NUMB_uc010arp.1_Silent_p.V245V|NUMB_uc010arq.1_Silent_p.V305V|NUMB_uc010arr.1_Silent_p.V294V|NUMB_uc001xoa.1_Silent_p.V403V|NUMB_uc001xnz.1_Silent_p.V440V|NUMB_uc001xob.1_Silent_p.V392V|NUMB_uc001xod.1_Silent_p.V403V|NUMB_uc001xoc.1_Silent_p.V451V|NUMB_uc010ars.1_Silent_p.V440V|NUMB_uc010ttz.1_Silent_p.V149V|NUMB_uc001xoe.2_RNA NM_001005743 NP_001005743 P49757 NUMB_HUMAN numb homolog isoform 1 451 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane ovary(2)|central_nervous_system(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) GCTGAGCCCGGACGCTCTTAG 0.607 NaN 0 0 0 0.004482 0 8 28 RPAP1 26015 broad.mit.edu 37 15 41822071 41822071 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr15:41822071C>G uc001zod.2 - 8 1174 c.1050G>C c.(1048-1050)CAG>CAC p.Q350H NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 350 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CCTCCTGTGTCTGCTGCCGCC 0.607 NaN 0 0 0 0.001984 0 7 23 RPAP1 26015 broad.mit.edu 37 15 41823249 41823249 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr15:41823249C>G uc001zod.2 - 7 1039 c.915G>C c.(913-915)AAG>AAC p.K305N NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 305 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCTTGTCTCTCTTCCTGGGCT 0.557 NaN 0 0 0 0.01441 0 51 133 RPAP1 26015 broad.mit.edu 37 15 41823378 41823378 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr15:41823378C>G uc001zod.2 - 7 910 c.786G>C c.(784-786)TTG>TTC p.L262F NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 262 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TGTGAGATCTCAAGAAAGCAA 0.567 NaN 0 0 0 0.010771 0 40 163 PYGO1 26108 broad.mit.edu 37 15 55839115 55839115 + Nonsense_Mutation SNP G G T rs149582531 TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr15:55839115G>T uc010bfl.1 - 3 422 c.366C>A c.(364-366)TAC>TAA p.Y122* PYGO1_uc002adf.1_Nonsense_Mutation_p.Y122* NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 122 Pro-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TCCTGAGTGAGTAAGGACCAC 0.473 NaN 1 0 6.31663e-08 0.003163 6.9105e-08 16 55 HEXA 3073 broad.mit.edu 37 15 72645501 72645501 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr15:72645501C>T uc002aun.3 - 5 685 c.478G>A c.(478-480)GAG>AAG p.E160K CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.E171K|HEXA_uc002auo.3_Missense_Mutation_p.E23K|HEXA_uc010bix.2_Missense_Mutation_p.E160K|HEXA_uc010biy.2_Missense_Mutation_p.E23K|HEXA_uc010uko.1_Intron|HEXA_uc010biz.1_RNA NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 160 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 TCCTCAATCTCAGTCTTGTTG 0.488 NaN 0 0 0 0.014758 0 5 19 ZNF710 374655 broad.mit.edu 37 15 90611183 90611183 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr15:90611183G>C uc002bov.1 + 2 937 c.814G>C c.(814-816)GAT>CAT p.D272H NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN zinc finger protein 710 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GGCCCAGCTGGATCGGCTGGA 0.632 NaN 0 0 0 0.010504 0 19 74 C15orf58 390637 broad.mit.edu 37 15 90785018 90785018 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr15:90785018G>A uc002bpc.2 + 4 1057 c.878G>A c.(877-879)CGG>CAG p.R293Q NM_001013657 NP_001013679 Q6ZNW5 VTC2_HUMAN hypothetical protein LOC390637 293 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity 0 TTTGTCACCCGGGGAGCTCCG 0.557 NaN 0 0 0 0.008291 0 10 68 IGFALS 3483 broad.mit.edu 37 16 1841120 1841120 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr16:1841120C>T uc002cmy.2 - 2 1380 c.1299G>A c.(1297-1299)CTG>CTA p.L433L IGFALS_uc010uvn.1_Silent_p.L471L|IGFALS_uc010uvo.1_Silent_p.L67L NM_004970 NP_004961 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid 433 cell adhesion|signal transduction soluble fraction insulin-like growth factor binding 0 GCAGCTCCGCCAGCCCCCACA 0.682 NaN 0 0 0 0.001168 0 6 14 SHCBP1 79801 broad.mit.edu 37 16 46650007 46650007 + Silent SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr16:46650007G>A uc002eec.3 - 4 487 c.447C>T c.(445-447)CTC>CTT p.L149L NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 149 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) GAGAGTCACAGAGGTATGGTT 0.468 NaN 0 0 0 0.020292 0 13 57 ZNF276 92822 broad.mit.edu 37 16 89788955 89788955 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr16:89788955C>T uc002fos.3 + 2 319 c.222C>T c.(220-222)CTC>CTT p.L74L C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_5'UTR|ZNF276_uc002foq.3_5'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GCCGGGCTCTCGCCATGGGTC 0.662 NaN 0 0 0 0.001168 0 6 53 ZZEF1 23140 broad.mit.edu 37 17 4017635 4017635 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr17:4017635G>C uc002fxe.2 - 4 888 c.824C>G c.(823-825)TCC>TGC p.S275C ZZEF1_uc002fxk.1_Missense_Mutation_p.S275C NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 275 DOC. calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTGCCAGTAGGATGAGGTTTC 0.388 NaN 0 0 0 0.005524 0 33 88 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.004482 0 8 21 SREBF1 6720 broad.mit.edu 37 17 17723649 17723649 + Missense_Mutation SNP G G A rs149599437 TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr17:17723649G>A uc002gru.1 - 2 472 c.278C>T c.(277-279)GCG>GTG p.A93V SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.A69V|SREBF1_uc002grt.1_Missense_Mutation_p.A123V|SREBF1_uc010cpp.1_Missense_Mutation_p.A69V|SREBF1_uc010cpq.1_Missense_Mutation_p.A93V NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 93 Pro/Ser-rich.|Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 GGGTGAGGGCGCTGCCTGCGG 0.637 NaN 0 0 0 0.00632 0 28 59 ACACA 31 broad.mit.edu 37 17 35445914 35445914 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr17:35445914G>C uc002hnm.2 - 55 7067 c.6876C>G c.(6874-6876)ATC>ATG p.I2292M ACACA_uc002hnk.2_Missense_Mutation_p.I2214M|ACACA_uc002hnl.2_Missense_Mutation_p.I2234M|ACACA_uc002hnn.2_Missense_Mutation_p.I2292M|ACACA_uc002hno.2_Missense_Mutation_p.I2329M|ACACA_uc010cuy.2_Missense_Mutation_p.I937M|ACACA_uc010wdb.1_Missense_Mutation_p.I330M|ACACA_uc010wdc.1_Missense_Mutation_p.I418M NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 2292 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGATGCATTTGATGTTTTCCT 0.463 NaN 0 0 0 0.006214 0 10 221 C17orf53 78995 broad.mit.edu 37 17 42225570 42225570 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr17:42225570C>T uc002ifi.1 + 3 584 c.399C>T c.(397-399)GCC>GCT p.A133A C17orf53_uc010czq.1_Silent_p.A133A|C17orf53_uc002ifj.1_Silent_p.A133A|C17orf53_uc002ifk.1_RNA NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 133 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) AGTCCTCAGCCTTACACCCCC 0.517 NaN 0 0 0 0.004482 0 7 173 GFAP 2670 broad.mit.edu 37 17 42985496 42985496 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr17:42985496G>C uc002ihq.2 - 8 1253 c.1193C>G c.(1192-1194)TCT>TGT p.S398C NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 398 Tail. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) TTCTGACACAGACTTGGTGTC 0.592 NaN 0 0 0 0.012213 0 31 75 B4GALNT2 124872 broad.mit.edu 37 17 47218697 47218697 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr17:47218697G>A uc002ion.2 + 2 342 c.283G>A c.(283-285)GCA>ACA p.A95T B4GALNT2_uc010wlt.1_Missense_Mutation_p.A9T|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A35T NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 95 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) GTTCCTTCAAGCAGTGTTCAG 0.507 NaN 0 0 0 0.015359 0 34 119 RPTOR 57521 broad.mit.edu 37 17 78936369 78936369 + Silent SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr17:78936369G>C uc002jyt.1 + 32 4606 c.3801G>C c.(3799-3801)CTG>CTC p.L1267L RPTOR_uc010wug.1_Silent_p.L1109L|RPTOR_uc002jyu.1_Silent_p.L160L NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 1267 WD 6. cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 AGGCGGACCTGATCGCATGGT 0.642 NaN 0 0 0 0.010729 0 11 43 MYOM1 8736 broad.mit.edu 37 18 3090701 3090701 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr18:3090701C>G uc002klp.2 - 27 4298 c.3964G>C c.(3964-3966)GAT>CAT p.D1322H MYOM1_uc002klq.2_Missense_Mutation_p.D1226H NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1322 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GCTTTTCCATCTTGAAGCTGG 0.413 NaN 0 0 0 0.005443 0 28 61 SLC39A3 29985 broad.mit.edu 37 19 2737188 2737188 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr19:2737188G>A uc002lwg.2 - 2 322 c.68C>T c.(67-69)TCC>TTC p.S23F SLC39A3_uc010xgy.1_Missense_Mutation_p.S23F|SLC39A3_uc002lwh.2_Missense_Mutation_p.S23F NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 23 Helical; (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGAGCAGGGAGCCGAGCAG 0.547 NaN 0 0 0 0.009096 0 3 22 MUC16 94025 broad.mit.edu 37 19 9048660 9048660 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr19:9048660G>C uc002mkp.2 - 5 33175 c.32971C>G c.(32971-32973)CTG>GTG p.L10991V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10993 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTAGCAACCAGAGAGGTCACC 0.512 NaN 0 0 0 0.001984 0 7 66 WIZ 58525 broad.mit.edu 37 19 15536463 15536463 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr19:15536463C>T uc002nbc.2 - 5 1743 c.1720G>A c.(1720-1722)GAG>AAG p.E574K WIZ_uc002nba.3_Missense_Mutation_p.E441K|WIZ_uc002nbb.3_Missense_Mutation_p.E400K NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1257 nucleus zinc ion binding 0 ACGGACCACTCGGTCACACCC 0.612 NaN 0 0 0 0.001168 0 6 32 KCNN1 3780 broad.mit.edu 37 19 18085055 18085055 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr19:18085055G>A uc002nht.2 + 3 668 c.358G>A c.(358-360)GTC>ATC p.V120I KCNN1_uc010xqa.1_Missense_Mutation_p.V120I NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 120 Helical; Name=Segment S1; (Potential). synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 TGGCATCGTCGTCATGGTGAC 0.642 NaN 0 0 0 0.004672 0 3 37 LIPE 3991 broad.mit.edu 37 19 42906947 42906947 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr19:42906947C>G uc002otr.2 - 9 3056 c.2779G>C c.(2779-2781)GAG>CAG p.E927Q uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 927 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) GGGCTCAGCTCATTTTTGGCC 0.612 NaN 0 0 0 0.008291 0 10 38 ZNF415 55786 broad.mit.edu 37 19 53612598 53612598 + Missense_Mutation SNP G G A rs150561707 byFrequency TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr19:53612598G>A uc002qax.2 - 7 1193 c.844C>T c.(844-846)CGT>TGT p.R282C ZNF415_uc002qat.2_Missense_Mutation_p.R246C|ZNF415_uc002qaw.2_Missense_Mutation_p.R234C|ZNF415_uc010yds.1_Missense_Mutation_p.R234C|ZNF415_uc010ydt.1_Missense_Mutation_p.R234C|ZNF415_uc002qau.2_Missense_Mutation_p.R221C|ZNF415_uc002qav.2_Missense_Mutation_p.R246C|ZNF415_uc002qba.2_Missense_Mutation_p.R4C|ZNF415_uc002qay.2_Missense_Mutation_p.R221C|ZNF415_uc002qaz.2_Missense_Mutation_p.R282C NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 282 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) CTTACCTGACGTACAGTCATG 0.398 NaN 0 0 0 0.007291 0 30 67 RETSAT 54884 broad.mit.edu 37 2 85577947 85577947 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr2:85577947G>C uc002spd.2 - 3 744 c.553C>G c.(553-555)CCA>GCA p.P185A RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.P124A|RETSAT_uc010fgf.2_Intron NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 185 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) TCCTCCTGTGGAAACTTCTCC 0.468 NaN 0 0 0 0.001168 0 6 152 EIF2AK3 9451 broad.mit.edu 37 2 88888374 88888374 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr2:88888374G>A uc002stc.3 - 7 1413 c.1211C>T c.(1210-1212)TCA>TTA p.S404L NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 404 Lumenal (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 AAACTTTTCTGAAATTCTGAC 0.338 NaN 0 0 0 0.00632 0 25 78 NFE2L2 4780 broad.mit.edu 37 2 178098954 178098954 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr2:178098954C>T uc002ulh.3 - 2 646 c.91G>A c.(91-93)GGA>AGA p.G31R NFE2L2_uc002ulg.3_Missense_Mutation_p.G15R|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15R|NFE2L2_uc002uli.3_Missense_Mutation_p.G15R|NFE2L2_uc010fra.2_Missense_Mutation_p.G15R|NFE2L2_uc010frb.2_Missense_Mutation_p.G15R NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 31 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G31R(1) central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CGACTTACTCCAAGATCTATA 0.358 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.010729 0 11 35 AOX1 316 broad.mit.edu 37 2 201515748 201515748 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr2:201515748G>A uc002uvx.2 + 26 3000 c.2899G>A c.(2899-2901)GAG>AAG p.E967K AOX1_uc010zhf.1_Missense_Mutation_p.E523K|AOX1_uc010fsu.2_Missense_Mutation_p.E333K NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 967 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CTACAAACAAGAGATCAATGC 0.418 NaN 0 0 0 0.003163 0 13 79 SPTLC3 55304 broad.mit.edu 37 20 13098330 13098330 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr20:13098330C>T uc002wod.1 + 8 1399 c.1110C>T c.(1108-1110)ACC>ACT p.T370T NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 370 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) GCACATTCACCAAAAGTTTTG 0.542 NaN 0 0 0 0.013537 0 13 81 CRNKL1 51340 broad.mit.edu 37 20 20024216 20024216 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr20:20024216C>G uc002wrs.2 - 8 1407 c.1375G>C c.(1375-1377)GAG>CAG p.E459Q NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 459 HAT 7. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 AACTTCTTCTCAAAGATGGTA 0.408 NaN 0 0 0 0.014758 0 5 103 PRPF6 24148 broad.mit.edu 37 20 62657330 62657330 + Silent SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr20:62657330G>A uc002yho.2 + 15 2115 c.1947G>A c.(1945-1947)GTG>GTA p.V649V PRPF6_uc002yhp.2_Intron NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 649 HAT 6. assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) TGGCAGCCGTGAAGCTGGAGT 0.652 NaN 0 0 0 0.01441 0 62 207 SFRS15 57466 broad.mit.edu 37 21 33076226 33076226 + Missense_Mutation SNP T T A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr21:33076226T>A uc002ypd.2 - 4 599 c.173A>T c.(172-174)TAC>TTC p.Y58F SFRS15_uc002ype.2_Missense_Mutation_p.Y58F|SFRS15_uc010glu.2_Missense_Mutation_p.Y43F|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.Y58F NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 58 CID. nucleus nucleotide binding|RNA binding 0 CGGAACCTTGTATTCTGGTTT 0.348 NaN 0 0 0 0.004672 0 3 44 SETD5 55209 broad.mit.edu 37 3 9483388 9483388 + Nonsense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr3:9483388C>T uc003brt.2 + 9 1357 c.922C>T c.(922-924)CGA>TGA p.R308* SETD5_uc003brs.1_Nonsense_Mutation_p.R289*|SETD5_uc003bru.2_Nonsense_Mutation_p.R210*|SETD5_uc003brv.2_Nonsense_Mutation_p.R197*|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 308 SET. ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGTCATGTTACGACAGCAATT 0.443 NaN 0 0 0 0.004007 0 14 80 SCN11A 11280 broad.mit.edu 37 3 38888407 38888407 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr3:38888407C>G uc011ays.1 - 26 5353 c.5154G>C c.(5152-5154)AAG>AAC p.K1718N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1718 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATACAACTTCTTGAGAGGAT 0.433 NaN 0 0 0 0.021022 0 35 145 ALCAM 214 broad.mit.edu 37 3 105243325 105243325 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr3:105243325G>A uc003dvx.2 + 3 907 c.367G>A c.(367-369)GAG>AAG p.E123K ALCAM_uc003dvv.2_Missense_Mutation_p.E123K|ALCAM_uc003dvw.1_Missense_Mutation_p.E123K|ALCAM_uc003dvy.2_Missense_Mutation_p.E123K|ALCAM_uc011bhh.1_Missense_Mutation_p.E72K NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 123 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 CAACGTGTTTGAGGCACCTAC 0.418 NaN 0 0 0 0.012319 0 21 64 C3orf15 89876 broad.mit.edu 37 3 119451310 119451310 + Silent SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr3:119451310C>G uc003ede.3 + 9 1265 c.1188C>G c.(1186-1188)CTC>CTG p.L396L C3orf15_uc010hqy.1_Silent_p.L396L|C3orf15_uc010hqz.2_Silent_p.L334L|C3orf15_uc011bjd.1_Silent_p.L270L|C3orf15_uc011bje.1_Silent_p.L376L|C3orf15_uc010hra.1_Silent_p.L157L NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha Error:Variant_position_missing_in_Q7Z4T9_after_alignment mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) ACTACTATCTCAACACCTATG 0.323 NaN 0 0 0 0.004482 0 9 19 GK5 256356 broad.mit.edu 37 3 141889249 141889249 + Silent SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr3:141889249G>A uc003euq.1 - 15 1490 c.1359C>T c.(1357-1359)GAC>GAT p.D453D GK5_uc003eup.1_Silent_p.D174D|GK5_uc010hus.1_RNA NM_001039547 NP_001034636 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 453 glycerol metabolic process ATP binding|glycerol kinase activity 0 CATTAATCAGGTCTGAAGTCA 0.408 NaN 0 0 0 0.009096 0 4 64 MBNL1 4154 broad.mit.edu 37 3 152018007 152018007 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr3:152018007C>T uc003ezm.2 + 1 814 c.25C>T c.(25-27)CGG>TGG p.R9W MBNL1_uc003ezh.2_Missense_Mutation_p.R9W|MBNL1_uc003ezi.2_Missense_Mutation_p.R9W|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Missense_Mutation_p.R9W|MBNL1_uc003ezp.2_Missense_Mutation_p.R9W|MBNL1_uc003ezn.2_Missense_Mutation_p.R9W|MBNL1_uc003ezo.2_Missense_Mutation_p.R9W|MBNL1_uc003ezg.1_RNA|MBNL1_uc003ezk.1_RNA NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 9 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CACACCAATTCGGGACACAAA 0.438 NaN 0 0 0 0.004007 0 14 49 TBL1XR1 79718 broad.mit.edu 37 3 176752109 176752109 + Missense_Mutation SNP C C A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr3:176752109C>A uc003fiw.3 - 13 1387 c.1127G>T c.(1126-1128)TGG>TTG p.W376L TBL1XR1_uc003fix.3_Missense_Mutation_p.W376L|TBL1XR1_uc011bpz.1_Missense_Mutation_p.W48L NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 376 WD 5. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) TTTCATACTCCATATCTAAAC 0.269 NaN 1 0 0.00116845 0.001168 0.00123604 6 13 EVC2 132884 broad.mit.edu 37 4 5633669 5633669 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr4:5633669C>T uc003gij.2 - 11 1615 c.1561G>A c.(1561-1563)GAC>AAC p.D521N EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.D441N NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 521 Potential. integral to membrane large_intestine(3)|ovary(2) 5 TTGGCAAAGTCTTCTTCTTGT 0.468 NaN 0 0 0 0.014758 0 5 89 RFC1 5981 broad.mit.edu 37 4 39290425 39290425 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr4:39290425C>G uc003gty.1 - 25 3537 c.3403G>C c.(3403-3405)GAT>CAT p.D1135H RFC1_uc003gtx.1_Missense_Mutation_p.D1134H NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 1135 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 GGCTCCTTATCTTTTTCTGGT 0.363 NaN 0 0 0 0.006122 0 17 50 FAT1 2195 broad.mit.edu 37 4 187549509 187549509 + Nonsense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr4:187549509G>A uc003izf.2 - 9 4797 c.4609C>T c.(4609-4611)CAA>TAA p.Q1537* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1537 Extracellular (Potential).|Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GGCACATCTTGATCTCGTACC 0.458 NaN HNSCC(5;0.00058) 0 0 0 0.004482 0 7 9 FAT1 2195 broad.mit.edu 37 4 187549807 187549807 + Silent SNP G G T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr4:187549807G>T uc003izf.2 - 8 4622 c.4434C>A c.(4432-4434)ATC>ATA p.I1478I NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1478 Extracellular (Potential).|Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CCACAGCACTGATTTGCAAAA 0.398 NaN HNSCC(5;0.00058) 1 0 4.96729e-08 0.008871 5.48115e-08 20 25 CTNND2 1501 broad.mit.edu 37 5 11346575 11346575 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr5:11346575C>T uc003jfa.1 - 9 1682 c.1537G>A c.(1537-1539)GAG>AAG p.E513K CTNND2_uc010itt.2_Missense_Mutation_p.E422K|CTNND2_uc011cmy.1_Missense_Mutation_p.E176K|CTNND2_uc011cmz.1_Missense_Mutation_p.E80K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.E80K NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 513 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TATGGAGACTCAACAGAGGGA 0.607 NaN 0 0 0 0.009535 0 26 96 VCAN 1462 broad.mit.edu 37 5 82868358 82868358 + Missense_Mutation SNP T T G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr5:82868358T>G uc003kii.3 + 13 10215 c.9859T>G c.(9859-9861)TAT>GAT p.Y3287D VCAN_uc003kij.3_Missense_Mutation_p.Y2300D|VCAN_uc010jau.2_Missense_Mutation_p.Y1533D|VCAN_uc003kik.3_Missense_Mutation_p.Y546D|VCAN_uc003kil.3_Missense_Mutation_p.Y1951D NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3287 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCATCTCACCTATACGTGCAA 0.383 NaN 0 0 0 0.013537 0 12 47 F12 2161 broad.mit.edu 37 5 176833003 176833003 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr5:176833003G>A uc003mgo.3 - 3 224 c.175C>T c.(175-177)CAC>TAC p.H59Y F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 59 Fibronectin type-II. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTACATTTGTGGTACAGCTGC 0.607 NaN Hereditary_Angioedema 0 0 0 0.019004 0 32 112 BTN3A3 10384 broad.mit.edu 37 6 26452381 26452381 + Silent SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr6:26452381C>T uc003nhz.2 + 11 1677 c.1497C>T c.(1495-1497)TTC>TTT p.F499F BTN3A3_uc003nia.2_Silent_p.F457F|BTN3A3_uc011dkn.1_Silent_p.F450F NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 499 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane 0 ATCCTGTTTTCAGAATTTTGA 0.478 NaN 0 0 0 0.001168 0 5 124 ORC3L 23595 broad.mit.edu 37 6 88317511 88317511 + Missense_Mutation SNP C C T rs149324991 byFrequency TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr6:88317511C>T uc003pmh.2 + 6 592 c.548C>T c.(547-549)TCA>TTA p.S183L ORC3L_uc011dzl.1_Missense_Mutation_p.S183L|ORC3L_uc011dzm.1_Missense_Mutation_p.S183L|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.S183L|ORC3L_uc003pmi.2_Missense_Mutation_p.S183L|ORC3L_uc011dzo.1_Missense_Mutation_p.S40L|ORC3L_uc011dzp.1_Missense_Mutation_p.S40L NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 183 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) TCAATGGATTCACTTTCCAGT 0.373 NaN 0 0 0 0.01892 0 23 65 BCLAF1 9774 broad.mit.edu 37 6 136599223 136599223 + Nonsense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr6:136599223G>A uc003qgx.1 - 4 1049 c.796C>T c.(796-798)CAG>TAG p.Q266* BCLAF1_uc003qgw.1_Nonsense_Mutation_p.Q266*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.Q264*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.Q264* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 266 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGACTATGCTGAATGGAATGT 0.448 NaN 0 0 0 0.014758 0 5 38 UTRN 7402 broad.mit.edu 37 6 144803379 144803379 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr6:144803379G>A uc003qkt.2 + 26 3634 c.3542G>A c.(3541-3543)AGA>AAA p.R1181K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1181 Spectrin 8. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAGGAGGTGAGAGTGAAGATT 0.453 NaN 0 0 0 0.008291 0 9 33 LANCL2 55915 broad.mit.edu 37 7 55459492 55459492 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr7:55459492C>G uc003tqp.2 + 2 789 c.211C>G c.(211-213)CAT>GAT p.H71D NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 71 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) TCAGATCATTCATAATTTCAT 0.363 NaN 0 0 0 0.013537 0 12 27 PION 54103 broad.mit.edu 37 7 77010667 77010667 + Silent SNP A A G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr7:77010667A>G uc003ugf.2 - 8 610 c.531T>C c.(529-531)ATT>ATC p.I177I PION_uc003ugg.1_5'UTR NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 177 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 GAAATTGTTCAATATCTTTAA 0.289 NaN 0 0 0 0.001984 0 5 24 MET 4233 broad.mit.edu 37 7 116409705 116409705 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr7:116409705G>A uc003vij.2 + 12 2777 c.2590G>A c.(2590-2592)GAT>AAT p.D864N MET_uc010lkh.2_Missense_Mutation_p.D882N|MET_uc011knj.1_Missense_Mutation_p.D434N NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 864 Extracellular (Potential). axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TCAGGGAAATGATATTGACCC 0.358 NaN Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 0 0 0 0.016723 0 14 42 SGK223 157285 broad.mit.edu 37 8 8185504 8185504 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr8:8185504C>T uc003wsh.3 - 4 2788 c.2788G>A c.(2788-2790)GGG>AGG p.G930R NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 930 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TGGGTGCTCCCGGTGGAGGCT 0.677 NaN 0 0 0 0.003163 0 14 47 MCM4 4173 broad.mit.edu 37 8 48874100 48874100 + Missense_Mutation SNP C C G TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr8:48874100C>G uc003xqk.1 + 3 190 c.95C>G c.(94-96)TCT>TGT p.S32C PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.S32C|MCM4_uc011ldi.1_Missense_Mutation_p.S32C|MCM4_uc010lxw.1_RNA NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 32 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GCCAGGTCATCTCCCTCTCAG 0.577 NaN 0 0 0 0.007413 0 16 37 TM7SF4 81501 broad.mit.edu 37 8 105361016 105361016 + Missense_Mutation SNP G G A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr8:105361016G>A uc003ylx.1 + 2 285 c.236G>A c.(235-237)CGA>CAA p.R79Q NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 79 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAGCATGCACGATGTTTTATT 0.522 NaN 0 0 0 0.004007 0 17 65 CNTLN 54875 broad.mit.edu 37 9 17464544 17464544 + Missense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr9:17464544G>C uc003zmz.2 + 21 3477 c.3451G>C c.(3451-3453)GAC>CAC p.D1151H CNTLN_uc003zmy.2_Missense_Mutation_p.D1152H|CNTLN_uc010mio.2_Missense_Mutation_p.D831H NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1152 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) TTTGATAGAGGACTTGAAATT 0.294 NaN 0 0 0 0.001168 0 5 20 CXorf21 80231 broad.mit.edu 37 X 30577604 30577604 + Missense_Mutation SNP C C T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chrX:30577604C>T uc004dcg.1 - 3 1145 c.869G>A c.(868-870)AGT>AAT p.S290N NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 290 ovary(1) 1 AATATGGAGACTAGGAGTGCT 0.368 NaN 0 0 0 0.013537 0 12 74 FGD1 2245 broad.mit.edu 37 X 54497828 54497828 + Missense_Mutation SNP G G T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chrX:54497828G>T uc004dtg.2 - 2 1134 c.400C>A c.(400-402)CGC>AGC p.R134S FGD1_uc011moi.1_5'Flank NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 134 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 GGGTCTGAGCGAAGCCGCTGG 0.612 NaN 1 0 1.99824e-07 0.00499 2.16758e-07 17 39 KIAA2022 340533 broad.mit.edu 37 X 73962899 73962899 + Nonsense_Mutation SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chrX:73962899G>C uc004eby.2 - 3 2110 c.1493C>G c.(1492-1494)TCA>TGA p.S498* NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 498 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 ACCCTCTAGTGAGTCAACATC 0.438 NaN 0 0 0 0.008291 0 11 22 ZNF75D 7626 broad.mit.edu 37 X 134427903 134427903 + Missense_Mutation SNP A A T TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chrX:134427903A>T uc004eyp.2 - 3 2819 c.164T>A c.(163-165)TTC>TAC p.F55Y ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.F55Y NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 55 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATGATAACGGAAGCTCCAGAA 0.478 NaN 0 0 0 0.010818 0 34 82 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr1:120612003_120612004delGG uc001eik.2 - 1 273_274 c.17_18delCC c.(16-18)CCCfs p.P6fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.663 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome NaN NaN NaN NaN NaN 5 9 --- --- TP63 8626 broad.mit.edu 37 3 189526295 189526303 + In_Frame_Del DEL GCCAAGTCG GCCAAGTCG - TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4576527b-b288-4f50-a9ea-5d5dede22561 a8e1dcc1-649d-442a-8663-0ea8ab1ef407 g.chr3:189526295_189526303delGCCAAGTCG uc003fry.2 + 4 648_656 c.559_567delGCCAAGTCG c.(559-567)GCCAAGTCGdel p.AKS187del TP63_uc003frx.2_In_Frame_Del_p.AKS187del|TP63_uc003frz.2_In_Frame_Del_p.AKS187del|TP63_uc010hzc.1_In_Frame_Del_p.AKS187del|TP63_uc003fsa.2_In_Frame_Del_p.AKS93del|TP63_uc003fsb.2_In_Frame_Del_p.AKS93del|TP63_uc003fsc.2_In_Frame_Del_p.AKS93del|TP63_uc003fsd.2_In_Frame_Del_p.AKS93del|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_In_Frame_Del_p.AKS68del NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 187_189 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GTCGAGCACCGCCAAGTCGGCCACCTGGA 0.622 NaN Hay-Wells_syndrome HNSCC(45;0.13) NaN NaN NaN NaN NaN 9 45 --- ---