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 ALDH4A1 8659 broad.mit.edu 37 1 19203948 19203948 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:19203948G>A uc001bbb.2 - 10 1375 c.1099C>T c.(1099-1101)CGG>TGG p.R367W ALDH4A1_uc010ocu.1_Missense_Mutation_p.R307W|ALDH4A1_uc001bbc.2_Missense_Mutation_p.R367W NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 367 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TCCAGCAGCCGCCCTTTGATC 0.687000 MACF1 23499 broad.mit.edu 37 1 39919394 39919394 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:39919394G>T uc010oiu.1 + 53 16218 c.16087G>T c.(16087-16089)GTA>TTA p.V5363L MACF1_uc010ois.1_Missense_Mutation_p.V4861L NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CATGAAGAAAGTAGAAGAAAA 0.408000 HIVEP3 59269 broad.mit.edu 37 1 42047371 42047371 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:42047371G>A uc001cgz.3 - 4 4311 c.3098C>T c.(3097-3099)GCG>GTG p.A1033V HIVEP3_uc001cha.3_Missense_Mutation_p.A1033V|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1033 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGCCACCCGCGCTGGTGGAGC 0.587000 RBM15 64783 broad.mit.edu 37 1 110883915 110883915 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:110883915C>G uc001dzl.1 + 1 1971 c.1888C>G c.(1888-1890)CGA>GGA p.R630G RBM15_uc001dzm.1_Missense_Mutation_p.R630G|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 630 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGAGGTGATCGAGATCTGCC 0.602000 T MKL1 acute megakaryocytic leukemia HIST2H3D 653604 broad.mit.edu 37 1 149785222 149785222 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:149785222C>G uc010pbl.1 - 1 15 c.15G>C c.(13-15)AAG>AAC p.K5N HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 5 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 GGGCAGTCTGCTTAGTACGGG 0.572000 SELENBP1 8991 broad.mit.edu 37 1 151338282 151338282 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:151338282G>A uc001exx.2 - 8 931 c.884C>T c.(883-885)CCC>CTC p.P295L SELENBP1_uc010pcy.1_Missense_Mutation_p.P337L|SELENBP1_uc001exy.2_Missense_Mutation_p.P192L|SELENBP1_uc001exz.2_Missense_Mutation_p.P192L|SELENBP1_uc010pcz.1_Missense_Mutation_p.P233L|SELENBP1_uc009wms.2_Missense_Mutation_p.P131L|SELENBP1_uc009wmt.2_Missense_Mutation_p.P192L|SELENBP1_uc001eya.2_Missense_Mutation_p.P231L|SELENBP1_uc009wmu.2_Missense_Mutation_p.P192L NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 295 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CACTTTCTTGGGGGGCACCTG 0.547000 CHRNB2 1141 broad.mit.edu 37 1 154542274 154542274 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:154542274C>T uc001ffg.2 + 3 481 c.217C>T c.(217-219)CGG>TGG p.R73W NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 73 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GCAGCATGAGCGGGAGCAGAT 0.607000 IGSF8 93185 broad.mit.edu 37 1 160062789 160062789 + Nonsense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:160062789G>A uc001fva.2 - 4 1282 c.1237C>T c.(1237-1239)CGA>TGA p.R413* IGSF8_uc001fuz.2_Nonsense_Mutation_p.R413*|IGSF8_uc009wtf.2_Nonsense_Mutation_p.R413* NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 413 Ig-like C2-type 3.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCAGACCCTCGAACATAGGCT 0.652000 PIK3C2B 5287 broad.mit.edu 37 1 204401491 204401491 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:204401491A>G uc001haw.2 - 28 4471 c.3992T>C c.(3991-3993)CTC>CCC p.L1331P PIK3C2B_uc010pqv.1_Missense_Mutation_p.L1303P NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1331 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GAAAAAATTGAGCTTTGTGGC 0.502000 OR1C1 26188 broad.mit.edu 37 1 247921378 247921378 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:247921378C>A uc010pza.1 - 1 331 c.331G>T c.(331-333)GAC>TAC p.D111Y NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGAGGCTGTCCATATTCACA 0.478000 TRDMT1 1787 broad.mit.edu 37 10 17199614 17199614 + Missense_Mutation SNP A A C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr10:17199614A>C uc001iop.2 - 8 761 c.713T>G c.(712-714)ATT>AGT p.I238S TRDMT1_uc001ioq.2_Missense_Mutation_p.I214S|TRDMT1_uc001ior.2_Missense_Mutation_p.I192S|TRDMT1_uc001ios.2_Missense_Mutation_p.I167S|TRDMT1_uc009xjt.2_Missense_Mutation_p.I157S|TRDMT1_uc010qcc.1_Missense_Mutation_p.I167S|TRDMT1_uc010qcd.1_Missense_Mutation_p.I115S NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform 238 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 TTTCCTGTGAATTTCTTCTGC 0.353000 HECTD2 143279 broad.mit.edu 37 10 93244365 93244365 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr10:93244365A>G uc001khl.2 + 9 1023 c.923A>G c.(922-924)AAG>AGG p.K308R LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.K312R|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 308 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 CCTATAACAAAGTGTTCCTGG 0.363000 CWF19L1 55280 broad.mit.edu 37 10 101997883 101997883 + Nonsense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr10:101997883C>A uc001kqq.1 - 11 1237 c.1150G>T c.(1150-1152)GAG>TAG p.E384* CWF19L1_uc001kqs.1_Nonsense_Mutation_p.E136*|CWF19L1_uc001kqr.1_Nonsense_Mutation_p.E384*|CWF19L1_uc001kqt.1_Nonsense_Mutation_p.E88*|CWF19L1_uc010qpn.1_Nonsense_Mutation_p.E247*|SNORA12_uc001kqu.1_5'Flank NM_018294 NP_060764 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control 384 catalytic activity 0 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) TTCTCCACCTCTTCTACCACC 0.488000 OR51G2 81282 broad.mit.edu 37 11 4936857 4936857 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr11:4936857C>T uc001lzr.1 - 1 37 c.37G>A c.(37-39)GTT>ATT p.V13I NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GTAGCAGAAACGCTGCTGCTG 0.557000 OR52A5 390054 broad.mit.edu 37 11 5152993 5152993 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr11:5152993C>A uc010qyx.1 - 1 880 c.880G>T c.(880-882)GTC>TTC p.V294F NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 294 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) ACTCCATAGACAATAGGGTTG 0.378000 HBG2 3048 broad.mit.edu 37 11 5275585 5275585 + Silent SNP G G C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr11:5275585G>C uc001mai.1 - 2 689 c.252C>G c.(250-252)GGC>GGG p.G84G HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Silent_p.G84G NM_000559 NP_000550 P69892 HBG2_HUMAN A-gamma globin 84 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCAAAGGTGCCCTTGAGAT 0.522000 OR4A47 403253 broad.mit.edu 37 11 48510956 48510956 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr11:48510956T>C uc010rhx.1 + 1 612 c.612T>C c.(610-612)GCT>GCC p.A204A NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAGGACTGGCTTGCACTATTG 0.438000 OR8I2 120586 broad.mit.edu 37 11 55861250 55861250 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr11:55861250C>T uc010rix.1 + 1 467 c.467C>T c.(466-468)TCG>TTG p.S156L NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) TTCACAAGCTCGCTGATATCT 0.433000 TECTA 7007 broad.mit.edu 37 11 120998499 120998499 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr11:120998499G>A uc010rzo.1 + 8 1813 c.1813G>A c.(1813-1815)GTG>ATG p.V605M NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 605 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCACTACTCCGTGTGCACAAG 0.637000 IGSF9B 22997 broad.mit.edu 37 11 133794727 133794727 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr11:133794727C>T uc001qgx.3 - 15 2338 c.2107G>A c.(2107-2109)GTC>ATC p.V703I IGSF9B_uc001qgy.1_Missense_Mutation_p.V545I NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 703 Fibronectin type-III 2.|Extracellular (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GTGCTGGAGACGCCGGCGATG 0.562000 CD163L1 283316 broad.mit.edu 37 12 7531888 7531888 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr12:7531888G>A uc001qsy.2 - 9 2083 c.2057C>T c.(2056-2058)TCG>TTG p.S686L CD163L1_uc010sge.1_Missense_Mutation_p.S696L NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 686 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 CTCCATATCCGATGCATCTGA 0.463000 FAM90A1 55138 broad.mit.edu 37 12 8374923 8374923 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr12:8374923G>A uc001qui.2 - 7 1449 c.890C>T c.(889-891)CCG>CTG p.P297L FAM90A1_uc001quh.2_Missense_Mutation_p.P297L NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 297 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) AGCCTGAATCGGAGCCGGGGC 0.642000 KRT6C 286887 broad.mit.edu 37 12 52865203 52865203 + Splice_Site SNP A A T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr12:52865203A>T uc001sal.3 - 4 960 c.912_splice c.e4+1 p.A304_splice NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C cytoskeleton organization keratin filament structural molecule activity p.?(1) ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) GGAGATGCTTACTGCATCATA 0.463000 KRT4 3851 broad.mit.edu 37 12 53207428 53207428 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr12:53207428C>T uc001saz.2 - 1 908 c.637G>A c.(637-639)GAA>AAA p.E213K NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 139 keratin filament structural molecule activity ovary(4)|skin(2) 6 TTGATCTGTTCGCGCTCTTCC 0.567000 NOC4L 79050 broad.mit.edu 37 12 132635872 132635872 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr12:132635872C>T uc001ujz.1 + 11 1073 c.1032C>T c.(1030-1032)CGC>CGT p.R344R NM_024078 NP_076983 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog 344 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) TCAAGTACCGCGCCCGCTTCT 0.657000 GOLGA3 2802 broad.mit.edu 37 12 133381458 133381458 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr12:133381458C>G uc001ukz.1 - 7 2000 c.1441G>C c.(1441-1443)GAG>CAG p.E481Q GOLGA3_uc001ula.1_Missense_Mutation_p.E481Q|GOLGA3_uc001ulb.2_Missense_Mutation_p.E481Q NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 481 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) ATGGCTCGCTCCAGGTCCCAG 0.622000 PABPC3 5042 broad.mit.edu 37 13 25670716 25670716 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr13:25670716C>T uc001upy.2 + 1 441 c.380C>T c.(379-381)TCG>TTG p.S127L NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 127 RRM 2. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AACATCCTTTCGTGTAACGTG 0.368000 FAM123A 219287 broad.mit.edu 37 13 25745314 25745314 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr13:25745314G>A uc001uqb.2 - 1 544 c.444C>T c.(442-444)GGC>GGT p.G148G FAM123A_uc001uqa.2_Silent_p.G148G|FAM123A_uc001uqc.2_Silent_p.G148G NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 148 Gly-rich. ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GGGAGCCCCCGCCGGGCCCTG 0.567000 EPSTI1 94240 broad.mit.edu 37 13 43543271 43543271 + Missense_Mutation SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr13:43543271T>A uc001uyw.1 - 3 366 c.290A>T c.(289-291)CAG>CTG p.Q97L EPSTI1_uc001uyx.1_Missense_Mutation_p.Q97L NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 97 Potential. ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) AGCTCTGTTCTGCTCCTTCCA 0.532000 TNFSF13B 10673 broad.mit.edu 37 13 108959245 108959245 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr13:108959245G>A uc001vqr.2 + 6 1084 c.817G>A c.(817-819)GAT>AAT p.D273N TNFSF13B_uc010agj.2_Missense_Mutation_p.D254N NM_006573 NP_006564 Q9Y275 TN13B_HUMAN tumor necrosis factor superfamily, member 13b 273 Extracellular (Potential). cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding 0 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) AATATCACTGGATGGAGATGT 0.383000 RNASE9 390443 broad.mit.edu 37 14 21024673 21024673 + Missense_Mutation SNP C C A rs149710160 TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr14:21024673C>A uc010aho.2 - 4 715 c.556G>T c.(556-558)GTG>TTG p.V186L RNASE9_uc001vxq.3_Missense_Mutation_p.V191L|RNASE9_uc010ahp.2_Missense_Mutation_p.V191L|RNASE9_uc010ahq.2_Missense_Mutation_p.V191L|RNASE9_uc010ahr.2_Missense_Mutation_p.V191L|RNASE9_uc010ahs.2_Missense_Mutation_p.V186L|RNASE9_uc010aht.2_Missense_Mutation_p.V186L|RNASE9_uc010ahu.2_Missense_Mutation_p.V186L NM_001110357 NP_001103827 P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 186 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(2) 2 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) GGTGGCTCCACGAGATCATTT 0.428000 FRMD6 122786 broad.mit.edu 37 14 52186866 52186866 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr14:52186866C>T uc001wzd.2 + 11 1403 c.1118C>T c.(1117-1119)GCG>GTG p.A373V FRMD6_uc001wzb.2_Missense_Mutation_p.A365V|FRMD6_uc001wzc.2_Missense_Mutation_p.A365V|FRMD6_uc001wze.2_Missense_Mutation_p.A296V|FRMD6_uc001wzf.2_Missense_Mutation_p.A66V|FRMD6_uc001wzg.2_Missense_Mutation_p.A15V NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 373 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GGGAGCAGTGCGGGCAGCATG 0.607000 DDHD1 80821 broad.mit.edu 37 14 53560062 53560062 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr14:53560062T>C uc001xai.2 - 3 1343 c.1113A>G c.(1111-1113)ACA>ACG p.T371T DDHD1_uc001xaj.2_Silent_p.T378T|DDHD1_uc001xah.2_Silent_p.T371T|DDHD1_uc001xag.2_5'UTR NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 371 lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) TTTGGGTAACTGTTCTTGCAA 0.333000 ZFYVE1 53349 broad.mit.edu 37 14 73441486 73441486 + Splice_Site SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr14:73441486C>G uc001xnm.2 - 10 2627 c.1987_splice c.e10+1 p.A663_splice ZFYVE1_uc001xnl.2_Splice_Site_p.A248_splice|ZFYVE1_uc010arj.2_Splice_Site_p.A649_splice NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) TCCCACGTTACCTAACTGGAC 0.602000 SERPINA5 5104 broad.mit.edu 37 14 95053780 95053780 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr14:95053780G>A uc001ydm.2 + 3 291 c.81G>A c.(79-81)ATG>ATA p.M27I SERPINA5_uc010ave.2_Missense_Mutation_p.M27I|SERPINA5_uc001ydn.1_Missense_Mutation_p.M27I NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 27 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CCCGGGAGATGAAGAAGAGAG 0.612000 MNS1 55329 broad.mit.edu 37 15 56726358 56726358 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr15:56726358C>T uc002adr.2 - 8 1412 c.1247G>A c.(1246-1248)CGC>CAC p.R416H MNS1_uc010bfo.2_Missense_Mutation_p.R284H|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 416 meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) GAATTGTTGGCGACGCTCTTC 0.348000 TMEM202 338949 broad.mit.edu 37 15 72691142 72691142 + Missense_Mutation SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr15:72691142T>G uc002auq.2 + 2 230 c.230T>G c.(229-231)CTG>CGG p.L77R TMEM202_uc002aur.2_Intron NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 77 integral to membrane central_nervous_system(1)|skin(1) 2 ATGTCCCCACTGAACTGGGTA 0.532000 CD276 80381 broad.mit.edu 37 15 73996565 73996565 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr15:73996565G>A uc002avv.1 + 6 1355 c.1121G>A c.(1120-1122)CGG>CAG p.R374Q CD276_uc010bjd.1_Missense_Mutation_p.R228Q|CD276_uc002avu.1_Missense_Mutation_p.R374Q|CD276_uc002avw.1_Missense_Mutation_p.R156Q|CD276_uc010ulb.1_Missense_Mutation_p.R320Q|CD276_uc002avx.2_RNA NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN CD276 antigen isoform a 374 Extracellular (Potential).|Ig-like C2-type 2. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding skin(1) 1 AAGGACCTGCGGCCAGGGGAC 0.652000 RASGRF1 5923 broad.mit.edu 37 15 79296145 79296145 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr15:79296145C>G uc002beq.2 - 16 2871 c.2496G>C c.(2494-2496)CAG>CAC p.Q832H RASGRF1_uc002bep.2_Missense_Mutation_p.Q816H|RASGRF1_uc010blm.1_Missense_Mutation_p.Q741H|RASGRF1_uc002ber.3_Missense_Mutation_p.Q816H|RASGRF1_uc010unh.1_Missense_Mutation_p.Q227H|RASGRF1_uc002beo.2_Missense_Mutation_p.Q48H NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 834 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GCCACTCACTCTGCTTGCTGA 0.627000 ASB7 140460 broad.mit.edu 37 15 101169989 101169989 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr15:101169989G>A uc002bwk.2 + 5 1328 c.559G>A c.(559-561)GCC>ACC p.A187T ASB7_uc002bwj.2_Missense_Mutation_p.A187T NM_198243 NP_937886 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box-containing protein 7 187 ANK 6. intracellular signal transduction skin(1) 1 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) GTTGCGATACGCCGTGATCAA 0.483000 OR4F6 390648 broad.mit.edu 37 15 102346572 102346572 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr15:102346572C>T uc010utr.1 + 1 650 c.650C>T c.(649-651)TCT>TTT p.S217F NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTCATAATCTCTTACATCTTT 0.368000 PKD1 5310 broad.mit.edu 37 16 2161261 2161261 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr16:2161261C>T uc002cos.1 - 15 4116 c.3907G>A c.(3907-3909)GCC>ACC p.A1303T PKD1_uc002cot.1_Missense_Mutation_p.A1303T NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1303 PKD 8.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GGGATGCAGGCGGCGGGTTCA 0.706000 ALG1 56052 broad.mit.edu 37 16 5125503 5125503 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr16:5125503G>A uc002cym.2 + 4 546 c.505G>A c.(505-507)GGC>AGC p.G169S ALG1_uc002cyj.2_Missense_Mutation_p.G58S|ALG1_uc002cyn.2_Missense_Mutation_p.G169S|ALG1_uc010bue.2_Missense_Mutation_p.G58S|ALG1_uc010uxy.1_Missense_Mutation_p.G58S NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 169 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) TCTGGTGCATGGCCCCAACCA 0.542000 CHD9 80205 broad.mit.edu 37 16 53321899 53321899 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr16:53321899C>T uc002ehb.2 + 26 5384 c.5220C>T c.(5218-5220)GCC>GCT p.A1740A CHD9_uc002egy.2_Silent_p.A1740A|CHD9_uc002ehc.2_Silent_p.A1740A|CHD9_uc002ehf.2_Silent_p.A854A|CHD9_uc010cbw.2_Silent_p.A108A NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1740 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) ACAAACCTGCCCCAGCCATCT 0.323000 CDH1 999 broad.mit.edu 37 16 68845649 68845649 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr16:68845649G>T uc002ewg.1 + 7 1019 c.895G>T c.(895-897)GCC>TCC p.A299S CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A299S NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 299 Cadherin 2.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CTACAATGCCGCCATCGCTTA 0.502000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) MYH4 4622 broad.mit.edu 37 17 10369949 10369949 + Silent SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr17:10369949G>T uc002gmn.2 - 3 225 c.114C>A c.(112-114)GTC>GTA p.V38V uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 38 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CCACCACAAAGACTGATGTCT 0.507000 NCOR1 9611 broad.mit.edu 37 17 15989742 15989742 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr17:15989742G>A uc002gpo.2 - 23 3271 c.3031C>T c.(3031-3033)CCA>TCA p.P1011S NCOR1_uc002gpn.2_Missense_Mutation_p.P1027S|NCOR1_uc002gpp.1_Missense_Mutation_p.P918S|NCOR1_uc002gpq.1_Missense_Mutation_p.P103S NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1011 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ACTTGATGTGGAGCAGGCTGA 0.443000 EFTUD2 9343 broad.mit.edu 37 17 42931680 42931680 + Missense_Mutation SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr17:42931680T>G uc002ihn.2 - 23 2565 c.2304A>C c.(2302-2304)CAA>CAC p.Q768H EFTUD2_uc010wje.1_Missense_Mutation_p.Q733H|EFTUD2_uc010wjf.1_Missense_Mutation_p.Q758H NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 768 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) ACTGGAAACCTTGAACGATGC 0.562000 KIAA1267 284058 broad.mit.edu 37 17 44249491 44249491 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr17:44249491C>T uc002ikb.2 - 1 104 c.19G>A c.(19-21)GCT>ACT p.A7T KIAA1267_uc002ikc.2_Missense_Mutation_p.A7T|KIAA1267_uc002ikd.2_Missense_Mutation_p.A7T|KIAA1267_uc010dav.2_Missense_Mutation_p.A7T NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 7 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) TCAGTGAGAGCGGGCGCCATC 0.622000 EPX 8288 broad.mit.edu 37 17 56270828 56270828 + Silent SNP C C T rs138191637 TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr17:56270828C>T uc002ivq.2 + 3 353 c.267C>T c.(265-267)GCC>GCT p.A89A NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 89 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 TTGTTCGGGCCGCAGATTATA 0.572000 LAMA1 284217 broad.mit.edu 37 18 7037734 7037734 + Missense_Mutation SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr18:7037734C>G uc002knm.2 - 12 1674 c.1580G>C c.(1579-1581)GGG>GCG p.G527A LAMA1_uc010wzj.1_Missense_Mutation_p.G3A NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 527 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACCAGCCACCCGGACATACT 0.453000 ESCO1 114799 broad.mit.edu 37 18 19110421 19110421 + Missense_Mutation SNP G G C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr18:19110421G>C uc002kth.1 - 12 3340 c.2406C>G c.(2404-2406)AGC>AGG p.S802R ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 802 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 TTTCTTCTTTGCTCAAATATG 0.333000 ZNF521 25925 broad.mit.edu 37 18 22671939 22671939 + Silent SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr18:22671939G>T uc002kvk.2 - 6 4012 c.3765C>A c.(3763-3765)ACC>ACA p.T1255T ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.T1255T|ZNF521_uc002kvl.2_Silent_p.T1035T NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1255 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GACACTTGAAGGTGCCTCCCA 0.498000 T PAX5 ALL DSG4 147409 broad.mit.edu 37 18 28983413 28983413 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr18:28983413T>C uc002kwq.2 + 11 1587 c.1452T>C c.(1450-1452)TGT>TGC p.C484C DSG4_uc002kwr.2_Silent_p.C484C NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 484 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAACCATATGTATTGAGGTTC 0.388000 NEDD4L 23327 broad.mit.edu 37 18 55996338 55996338 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr18:55996338G>A uc002lgy.2 + 10 1066 c.792G>A c.(790-792)TCG>TCA p.S264S NEDD4L_uc002lgz.2_Silent_p.S264S|NEDD4L_uc002lgx.2_Silent_p.S264S|NEDD4L_uc010xee.1_Silent_p.S143S|NEDD4L_uc002lhc.2_Silent_p.S256S|NEDD4L_uc002lhd.2_Silent_p.S143S|NEDD4L_uc002lhb.2_Silent_p.S143S|NEDD4L_uc002lhe.2_Silent_p.S256S|NEDD4L_uc002lhf.2_Silent_p.S143S|NEDD4L_uc002lhg.2_Silent_p.S143S|NEDD4L_uc002lhh.2_Silent_p.S143S|NEDD4L_uc010dpm.1_Silent_p.S115S NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 264 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 CCGAGCCCTCGGAGGGCGGGG 0.572000 WDR18 57418 broad.mit.edu 37 19 992107 992107 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:992107G>A uc002lqm.1 + 8 1110 c.1084G>A c.(1084-1086)GGC>AGC p.G362S WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.G325S|WDR18_uc010dry.1_Missense_Mutation_p.G362S NM_024100 NP_077005 Q9BV38 WDR18_HUMAN WD repeat domain 18 362 skin(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) TCTGCGCCTGGGCCTCCACCA 0.716000 TUBB4 10382 broad.mit.edu 37 19 6496043 6496043 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:6496043C>T uc002mfg.1 - 4 574 c.467G>A c.(466-468)CGC>CAC p.R156H TUBB4_uc002mff.1_Missense_Mutation_p.R84H|MIR220B_hsa-mir-220b|MI0005529_RNA NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 156 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GAACTCCTCGCGGATCTTACT 0.637000 LASS4 79603 broad.mit.edu 37 19 8316115 8316115 + Missense_Mutation SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:8316115T>A uc002mjg.2 + 3 475 c.155T>A c.(154-156)ATG>AAG p.M52K LASS4_uc002mjh.2_Missense_Mutation_p.M1K|LASS4_uc002mji.2_Intron|LASS4_uc010dvz.2_Missense_Mutation_p.M52K NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 52 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 CTCCTGGCCATGCGCCTTGCC 0.622000 ZNF85 7639 broad.mit.edu 37 19 21132969 21132969 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:21132969C>T uc002npg.3 + 4 1776 c.1649C>T c.(1648-1650)TCC>TTC p.S550F ZNF85_uc010ecn.2_Missense_Mutation_p.S485F|ZNF85_uc010eco.2_Missense_Mutation_p.S498F|ZNF85_uc002npi.2_Missense_Mutation_p.S491F NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 550 C2H2-type 15. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 TTTAACCAGTCCTCAAACCTT 0.348000 ZNF208 7757 broad.mit.edu 37 19 22154592 22154592 + Nonsense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:22154592C>A uc002nqp.2 - 6 3009 c.2860G>T c.(2860-2862)GAG>TAG p.E954* ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TAGGGTTCCTCTCCAGCATGA 0.438000 WDR88 126248 broad.mit.edu 37 19 33628609 33628609 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:33628609C>T uc002nui.2 + 2 381 c.303C>T c.(301-303)CAC>CAT p.H101H NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 101 WD 1. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) TGAGTGGGCACGAGCACGCTG 0.408000 WDR88 126248 broad.mit.edu 37 19 33651380 33651380 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:33651380G>A uc002nui.2 + 8 1136 c.1058G>A c.(1057-1059)GGC>GAC p.G353D NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 353 WD 6. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) GTAGCAGAAGGCTACCGGAAG 0.438000 ZNF382 84911 broad.mit.edu 37 19 37118196 37118196 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:37118196G>T uc002oek.2 + 5 1510 c.1397G>T c.(1396-1398)TGT>TTT p.C466F ZNF382_uc010efa.2_Missense_Mutation_p.C417F|ZNF382_uc010efb.2_Missense_Mutation_p.C465F|ZNF382_uc002oel.2_Missense_Mutation_p.C465F NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 466 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CCCTATATTTGTAATGAATGT 0.448000 LTBP4 8425 broad.mit.edu 37 19 41119862 41119862 + Silent SNP C C G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:41119862C>G uc002ooh.1 + 21 2799 c.2799C>G c.(2797-2799)GGC>GGG p.G933G LTBP4_uc002oog.1_Silent_p.G896G|LTBP4_uc002ooi.1_Silent_p.G866G|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Silent_p.G153G|LTBP4_uc002ool.1_Silent_p.G31G|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 933 Cys-rich.|EGF-like 11; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCAGAGCGGCATCTGTACCA 0.692000 NLRP7 199713 broad.mit.edu 37 19 55450893 55450893 + Nonsense_Mutation SNP G G A rs104895530 TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:55450893G>A uc002qih.3 - 4 1370 c.1294C>T c.(1294-1296)CGA>TGA p.R432* NLRP7_uc002qig.3_Nonsense_Mutation_p.R432*|NLRP7_uc002qii.3_Nonsense_Mutation_p.R432*|NLRP7_uc010esk.2_Nonsense_Mutation_p.R432*|NLRP7_uc010esl.2_Nonsense_Mutation_p.R460* NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 432 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) AGGTCCTCTCGGTGGAACACG 0.687000 ZNF471 57573 broad.mit.edu 37 19 57036978 57036978 + Silent SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:57036978T>G uc002qnh.2 + 5 1675 c.1542T>G c.(1540-1542)CCT>CCG p.P514P NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) GAGAGAAGCCTTATGAATGTA 0.373000 ZNF132 7691 broad.mit.edu 37 19 58944765 58944765 + Silent SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr19:58944765A>G uc002qst.3 - 3 2447 c.2046T>C c.(2044-2046)ACT>ACC p.T682T NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 682 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TACACTCATAAGTCCTTTCTC 0.443000 E2F6 1876 broad.mit.edu 37 2 11587867 11587867 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr2:11587867C>T uc002rbh.2 - 6 977 c.685G>A c.(685-687)GGA>AGA p.G229R E2F6_uc002rbe.2_Missense_Mutation_p.G154R|E2F6_uc002rbf.2_Missense_Mutation_p.G197R|E2F6_uc002rbg.2_Missense_Mutation_p.G154R|E2F6_uc002rbi.2_Missense_Mutation_p.G154R|E2F6_uc010yjl.1_RNA NM_198256 NP_937987 O75461 E2F6_HUMAN E2F transcription factor 6 229 Transcription repression. G -> E (in Ref. 8; AAC14694). negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity skin(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) TCGATAGGTCCGTTGGTGCTC 0.433000 CAD 790 broad.mit.edu 37 2 27440776 27440776 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr2:27440776G>T uc002rji.2 + 2 276 c.114G>T c.(112-114)GAG>GAT p.E38D CAD_uc010eyw.2_Missense_Mutation_p.E38D NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 38 GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCTACCCCGAGGCCCTCACCG 0.587000 MSH2 4436 broad.mit.edu 37 2 47657028 47657028 + Nonsense_Mutation SNP T T G rs63750132 TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr2:47657028T>G uc002rvy.1 + 7 1292 c.1224T>G c.(1222-1224)TAT>TAG p.Y408* MSH2_uc010yoh.1_Nonsense_Mutation_p.Y342*|MSH2_uc002rvz.2_Nonsense_Mutation_p.Y408*|MSH2_uc010fbg.2_Nonsense_Mutation_p.Y218* NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 408 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.?(1) large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACCGACTCTATCAGGGTATAA 0.348000 D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome NRXN1 9378 broad.mit.edu 37 2 50280681 50280681 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr2:50280681C>T uc010fbp.2 - 4 1468 c.661G>A c.(661-663)GGG>AGG p.G221R NRXN1_uc002rxb.3_Missense_Mutation_p.G958R|NRXN1_uc010fbq.2_Missense_Mutation_p.G1326R|NRXN1_uc002rxe.3_Missense_Mutation_p.G1256R NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 221 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGCTCTTTCCCGCCAATTATT 0.448000 IL18R1 8809 broad.mit.edu 37 2 102992506 102992506 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr2:102992506A>G uc002tbw.3 + 5 758 c.608A>G c.(607-609)AAT>AGT p.N203S IL18R1_uc010ywc.1_Missense_Mutation_p.N203S|IL18R1_uc010ywd.1_Missense_Mutation_p.N48S|IL18R1_uc010fiy.2_Missense_Mutation_p.N203S NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 203 Ig-like C2-type 2.|Extracellular (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 AAAACCTTCAATATAACAATA 0.338000 OSBPL6 114880 broad.mit.edu 37 2 179197640 179197640 + Nonsense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr2:179197640C>T uc002ulx.2 + 8 907 c.529C>T c.(529-531)CGA>TGA p.R177* OSBPL6_uc002ulw.2_Nonsense_Mutation_p.R177*|OSBPL6_uc002uly.2_Nonsense_Mutation_p.R177*|OSBPL6_uc010zfe.1_Nonsense_Mutation_p.R177*|OSBPL6_uc002ulz.2_Nonsense_Mutation_p.R177*|OSBPL6_uc002uma.2_Nonsense_Mutation_p.R156* NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 177 PH. lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CTCCAAACTGCGACATCATCG 0.433000 TTN 7273 broad.mit.edu 37 2 179669352 179669352 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr2:179669352C>T uc002und.2 - 2 243 c.18G>A c.(16-18)CCG>CCA p.P6P TTN_uc010zfg.1_Silent_p.P6P|TTN_uc010zfh.1_Silent_p.P6P|TTN_uc010zfi.1_Silent_p.P6P|TTN_uc010zfj.1_Silent_p.P6P|TTN_uc002unb.2_Silent_p.P6P Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 6 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCGTAAACGTCGGTGCTTGAG 0.463000 TGM6 343641 broad.mit.edu 37 20 2398117 2398117 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr20:2398117C>T uc002wfy.1 + 10 1637 c.1576C>T c.(1576-1578)CGG>TGG p.R526W TGM6_uc010gal.1_Missense_Mutation_p.R526W NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 526 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) CCGGGCCCAGCGGGTGAGGGT 0.647000 SSTR4 6754 broad.mit.edu 37 20 23016224 23016224 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr20:23016224C>T uc002wsr.2 + 1 168 c.104C>T c.(103-105)GCG>GTG p.A35V NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 35 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCGGAGGAGGCGGTggcgggg 0.612000 CHMP4B 128866 broad.mit.edu 37 20 32436452 32436452 + Splice_Site SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr20:32436452T>C uc002xaa.2 + 2 524 c.368_splice c.e2+2 p.M123_splice NM_176812 NP_789782 Q9H444 CHM4B_HUMAN chromatin modifying protein 4B cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(1)|central_nervous_system(1) 2 TGACAACATGTACGTGTCCAC 0.612000 ARFGEF2 10564 broad.mit.edu 37 20 47633918 47633918 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr20:47633918C>T uc002xtx.3 + 32 4600 c.4448C>T c.(4447-4449)CCA>CTA p.P1483L ARFGEF2_uc010zyf.1_Missense_Mutation_p.P776L NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1483 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ACAACCATCCCACATGTGTAA 0.373000 ZNF512B 57473 broad.mit.edu 37 20 62591290 62591290 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr20:62591290C>T uc002yhl.1 - 17 2684 c.2630G>A c.(2629-2631)CGG>CAG p.R877Q NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 877 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGTGGAGCCCCGGGCCCCCTT 0.711000 CSF2RB 1439 broad.mit.edu 37 22 37331476 37331476 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr22:37331476G>A uc003aqa.3 + 11 1616 c.1399G>A c.(1399-1401)GGG>AGG p.G467R CSF2RB_uc003aqc.3_Missense_Mutation_p.G473R NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 467 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) TGGCATCTACGGGTACAGGTG 0.662000 MICALL1 85377 broad.mit.edu 37 22 38323469 38323469 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr22:38323469C>T uc003aui.2 + 9 1601 c.1517C>T c.(1516-1518)TCG>TTG p.S506L NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 506 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) GCCACACCATCGCCAGCGCTC 0.677000 BAP1 8314 broad.mit.edu 37 3 52443593 52443593 + Nonsense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr3:52443593G>T uc003ddx.2 - 3 214 c.99C>A c.(97-99)TAC>TAA p.Y33* PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 33 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TCTGAAGGTCGTAGATCTCCT 0.612000 N|Mis|F|S|O uveal melanoma|breast|NSCLC LRIG1 26018 broad.mit.edu 37 3 66436708 66436708 + Nonsense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr3:66436708G>A uc003dmx.2 - 13 1500 c.1486C>T c.(1486-1488)CAG>TAG p.Q496* SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Nonsense_Mutation_p.Q116*|LRIG1_uc003dmw.2_Nonsense_Mutation_p.Q162*|LRIG1_uc010hnz.2_Nonsense_Mutation_p.Q212*|LRIG1_uc010hoa.2_Nonsense_Mutation_p.Q520* NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 496 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GTGATGATCTGTGGCTTCAGG 0.537000 KIAA2018 205717 broad.mit.edu 37 3 113376724 113376724 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr3:113376724C>T uc003eam.2 - 7 4216 c.3805G>A c.(3805-3807)GTG>ATG p.V1269M KIAA2018_uc003eal.2_Missense_Mutation_p.V1213M NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1269 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GTTGCAGGCACAGTTGTTTGC 0.468000 STAG1 10274 broad.mit.edu 37 3 136096538 136096538 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr3:136096538C>A uc003era.1 - 23 2626 c.2334G>T c.(2332-2334)CAG>CAT p.Q778H STAG1_uc003erb.1_Missense_Mutation_p.Q778H|STAG1_uc003erc.1_Missense_Mutation_p.Q552H NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 778 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TAGACAGGCACTGCTGGCAAA 0.358000 CEP70 80321 broad.mit.edu 37 3 138248265 138248265 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr3:138248265G>A uc003esl.2 - 9 930 c.732C>T c.(730-732)AAC>AAT p.N244N CEP70_uc011bmk.1_Silent_p.N224N|CEP70_uc011bml.1_Silent_p.N226N|CEP70_uc011bmm.1_Silent_p.N92N|CEP70_uc003esm.2_Silent_p.N244N NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN centrosomal protein 70 kDa 244 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding skin(1) 1 TTCTGTAGTCGTTTTCTTCTT 0.289000 RSRC1 51319 broad.mit.edu 37 3 157920896 157920896 + Missense_Mutation SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr3:157920896G>T uc003fbt.2 + 4 467 c.356G>T c.(355-357)CGT>CTT p.R119L RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R119L|RSRC1_uc003fbv.2_Intron NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 119 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TCTCATAGTCGTAGCAGTGAA 0.378000 FXR1 8087 broad.mit.edu 37 3 180685947 180685947 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr3:180685947G>A uc003fkq.2 + 14 1329 c.1307G>A c.(1306-1308)CGT>CAT p.R436H FXR1_uc003fkp.2_Missense_Mutation_p.R351H|FXR1_uc003fkr.2_Missense_Mutation_p.R436H|FXR1_uc011bqj.1_Missense_Mutation_p.R350H|FXR1_uc003fks.2_Missense_Mutation_p.R379H|FXR1_uc011bqk.1_Missense_Mutation_p.R387H|FXR1_uc011bql.1_Missense_Mutation_p.R423H NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 436 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) CGACATCAGCGTGACAGCAGG 0.547000 MFSD7 84179 broad.mit.edu 37 4 680390 680390 + Nonsense_Mutation SNP G G C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr4:680390G>C uc003gay.2 - 2 282 c.225C>G c.(223-225)TAC>TAG p.Y75* MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Nonsense_Mutation_p.Y75*|MFSD7_uc003gaz.2_Nonsense_Mutation_p.Y53*|MFSD7_uc003gba.2_Nonsense_Mutation_p.Y75*|MFSD7_uc003gbb.1_Nonsense_Mutation_p.Y11* NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 75 Helical; (Potential). transmembrane transport integral to membrane 0 ATACCACGAGGTAGACCAGTG 0.627000 DCAF4L1 285429 broad.mit.edu 37 4 41984892 41984892 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr4:41984892C>T uc003gwk.2 + 1 1180 c.1083C>T c.(1081-1083)GAC>GAT p.D361D NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 361 skin(1) 1 CCTCCGAGGACGACATTCCCA 0.627000 KCTD8 386617 broad.mit.edu 37 4 44450216 44450216 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr4:44450216C>T uc003gwu.2 - 1 609 c.325G>A c.(325-327)GTG>ATG p.V109M NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 109 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TAATCCAGCACGTACCTGAAA 0.567000 HNSCC(17;0.042) NEUROG2 63973 broad.mit.edu 37 4 113436204 113436204 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr4:113436204G>A uc003ias.2 - 2 755 c.428C>T c.(427-429)CCC>CTC p.P143L NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN neurogenin 2 143 Helix-loop-helix motif. positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding skin(2)|central_nervous_system(1) 3 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) GGCGTCCTCGGGGAACGTGGG 0.607000 KIAA1109 84162 broad.mit.edu 37 4 123192559 123192559 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr4:123192559G>A uc003ieh.2 + 45 7925 c.7880G>A c.(7879-7881)GGA>GAA p.G2627E KIAA1109_uc003iel.1_Missense_Mutation_p.G562E|KIAA1109_uc003iek.2_Missense_Mutation_p.G1246E NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2627 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGTTCTAGAGGAAGTCTTAAT 0.403000 ZNF827 152485 broad.mit.edu 37 4 146686173 146686173 + Missense_Mutation SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr4:146686173T>C uc003ikn.2 - 13 3245 c.3197A>G c.(3196-3198)AAG>AGG p.K1066R ZNF827_uc003ikm.2_Missense_Mutation_p.K1066R|ZNF827_uc010iox.2_Missense_Mutation_p.K716R|ZNF827_uc003ikl.2_Missense_Mutation_p.K151R NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 1066 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) GTGGCATTTCTTATGCTCCAG 0.493000 EDNRA 1909 broad.mit.edu 37 4 148463689 148463689 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr4:148463689C>T uc003iky.2 + 8 1895 c.1203C>T c.(1201-1203)AAC>AAT p.N401N EDNRA_uc011cid.1_Silent_p.N176N|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Silent_p.N292N NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 401 Cytoplasmic (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TCCCCATGAACGGAACAAGCA 0.532000 LMBRD2 92255 broad.mit.edu 37 5 36137532 36137532 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr5:36137532G>A uc003jkb.1 - 5 795 c.380C>T c.(379-381)CCT>CTT p.P127L NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 127 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGCATAAAAGGTAAGAGAAT 0.333000 ST8SIA4 7903 broad.mit.edu 37 5 100147763 100147763 + Nonsense_Mutation SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr5:100147763T>A uc003knk.2 - 5 1196 c.868A>T c.(868-870)AGA>TGA p.R290* NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 290 Lumenal (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCACAGAATCTTGTGGCAAGT 0.363000 PCDHB10 56126 broad.mit.edu 37 5 140573656 140573656 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr5:140573656G>A uc003lix.2 + 1 1705 c.1531G>A c.(1531-1533)GGC>AGC p.G511S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 511 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCGGACAACGGCCACCTGTT 0.692000 PCDHGB4 8641 broad.mit.edu 37 5 140769437 140769437 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr5:140769437C>T uc003lkc.1 + 1 1986 c.1986C>T c.(1984-1986)TTC>TTT p.F662F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.F662F NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 662 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGGTCTTCGCCGACAGCT 0.657000 PCDHGB6 56100 broad.mit.edu 37 5 140788444 140788444 + Silent SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr5:140788444C>T uc003lkj.1 + 1 675 c.675C>T c.(673-675)ACC>ACT p.T225T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.T225T NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 225 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGTGCCACCGCTCACATAG 0.473000 ZNF346 23567 broad.mit.edu 37 5 176468802 176468802 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr5:176468802G>A uc003mfi.2 + 3 346 c.303G>A c.(301-303)GTG>GTA p.V101V ZNF346_uc011dfr.1_Intron|ZNF346_uc011dfs.1_Intron|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Silent_p.V126V|ZNF346_uc011dft.1_Intron NM_012279 NP_036411 Q9UL40 ZN346_HUMAN zinc finger protein 346 101 Matrin-type 1. cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding 0 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) 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) CCAACAAAGTGAAGAGATACC 0.413000 CDC5L 988 broad.mit.edu 37 6 44376302 44376302 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr6:44376302A>G uc003oxl.2 + 8 1284 c.1025A>G c.(1024-1026)AAT>AGT p.N342S NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 342 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTGAGTACAATGTCACCAAC 0.453000 MANEA 79694 broad.mit.edu 37 6 96034725 96034725 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr6:96034725A>G uc003poo.1 + 2 550 c.410A>G c.(409-411)AAG>AGG p.K137R MANEA_uc003pon.2_Missense_Mutation_p.K137R NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 137 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AGAATAGCCAAGAATTATCCA 0.398000 GHRHR 2692 broad.mit.edu 37 7 31018824 31018824 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr7:31018824C>T uc003tbx.2 + 13 1285 c.1237C>T c.(1237-1239)CGC>TGC p.R413C GHRHR_uc003tby.2_Missense_Mutation_p.R349C|GHRHR_uc003tbz.2_3'UTR NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 413 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) CACGCCTTCCCGCTCGGCGGC 0.602000 MAGI2 9863 broad.mit.edu 37 7 77789453 77789453 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr7:77789453C>T uc003ugx.2 - 16 2988 c.2734G>A c.(2734-2736)GCC>ACC p.A912T MAGI2_uc003ugy.2_Missense_Mutation_p.A898T|MAGI2_uc010ldx.1_Missense_Mutation_p.A505T NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 912 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGTGGGAGGCGAAGCCTTCA 0.577000 PCLO 27445 broad.mit.edu 37 7 82579844 82579844 + Missense_Mutation SNP C C A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr7:82579844C>A uc003uhx.2 - 6 10349 c.10060G>T c.(10060-10062)GAT>TAT p.D3354Y PCLO_uc003uhv.2_Missense_Mutation_p.D3354Y|PCLO_uc010lec.2_Missense_Mutation_p.D319Y NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3285 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTGGTTGCATCTTCAGTTGCC 0.483000 SLC26A4 5172 broad.mit.edu 37 7 107314680 107314680 + Missense_Mutation SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr7:107314680G>A uc003vep.2 + 5 711 c.487G>A c.(487-489)GTA>ATA p.V163I NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 163 Extracellular (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 ACACTTTCTCGTATCCAGCAG 0.453000 Pendred_syndrome NUP205 23165 broad.mit.edu 37 7 135304191 135304191 + Silent SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr7:135304191G>A uc003vsw.2 + 29 4015 c.3984G>A c.(3982-3984)GCG>GCA p.A1328A NUP205_uc003vsx.2_5'Flank NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1328 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 ATGAAGCTGCGCAAGAGTTAA 0.443000 FGF20 26281 broad.mit.edu 37 8 16850819 16850819 + Missense_Mutation SNP A A G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr8:16850819A>G uc003wxc.1 - 3 531 c.398T>C c.(397-399)CTT>CCT p.L133P FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Silent_p.T98T NM_019851 NP_062825 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 133 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity lung(1) 1 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TTCGGAAGTAAGTTTCTCCTG 0.323000 POP1 10940 broad.mit.edu 37 8 99135655 99135655 + Missense_Mutation SNP A A T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr8:99135655A>T uc003yij.3 + 2 190 c.90A>T c.(88-90)AGA>AGT p.R30S POP1_uc011lgv.1_Missense_Mutation_p.R30S|POP1_uc003yik.2_Missense_Mutation_p.R30S NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 30 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TGGCTGACAGAGGTGTAAAGC 0.353000 RIMS2 9699 broad.mit.edu 37 8 104898126 104898126 + Silent SNP T T C TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr8:104898126T>C uc003yls.2 + 2 874 c.633T>C c.(631-633)CCT>CCC p.P211P RIMS2_uc003ylp.2_Silent_p.P433P|RIMS2_uc003ylw.2_Silent_p.P241P|RIMS2_uc003ylq.2_Silent_p.P241P|RIMS2_uc003ylr.2_Silent_p.P241P NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 464 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACCATAGTCCTCCTACCCCCA 0.488000 HNSCC(12;0.0054) OC90 729330 broad.mit.edu 37 8 133044144 133044144 + Silent SNP T T G TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr8:133044144T>G uc003ytg.2 - 11 1015 c.1015A>C c.(1015-1017)AGG>CGG p.R339R OC90_uc011lix.1_Silent_p.R339R NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 355 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGGTCATCCCTTGGCTCGCCT 0.557000 TRPM6 140803 broad.mit.edu 37 9 77354315 77354315 + Missense_Mutation SNP T T A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr9:77354315T>A uc004ajl.1 - 35 5776 c.5538A>T c.(5536-5538)CAA>CAT p.Q1846H TRPM6_uc004ajk.1_Missense_Mutation_p.Q1841H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.Q797H|TRPM6_uc010mpd.1_Missense_Mutation_p.Q679H|TRPM6_uc010mpe.1_Missense_Mutation_p.Q393H|TRPM6_uc004ajj.1_Missense_Mutation_p.Q802H NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1846 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GTGGTTTCACTTGGTTGAAGG 0.388000 PTPDC1 138639 broad.mit.edu 37 9 96864034 96864034 + Splice_Site SNP G G A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr9:96864034G>A uc004auf.1 + 8 2377 c.2037_splice c.e8+1 p.K679_splice PTPDC1_uc004aug.1_Splice_Site_p.K674_splice|PTPDC1_uc004auh.1_Splice_Site_p.K731_splice|PTPDC1_uc010mrj.1_Splice_Site_p.K733_splice NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 ATTAGAGAAGGTAAAGTGGCT 0.413000 IKBKAP 8518 broad.mit.edu 37 9 111674597 111674597 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr9:111674597C>T uc004bdm.3 - 11 1656 c.1136G>A c.(1135-1137)CGG>CAG p.R379Q IKBKAP_uc004bdl.2_Missense_Mutation_p.R30Q|IKBKAP_uc011lwc.1_Missense_Mutation_p.R265Q|IKBKAP_uc010mtq.2_Missense_Mutation_p.R30Q NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 379 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 TCCCACGCTCCGGTCAGTCGT 0.542000 PDCL 5082 broad.mit.edu 37 9 125588916 125588916 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr9:125588916C>T uc004bmz.1 - 2 247 c.151G>A c.(151-153)GAA>AAA p.E51K PDCL_uc004bna.2_Missense_Mutation_p.E51K NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like 51 signal transduction|visual perception 0 GAGATGCCTTCGCCTGCCAGC 0.463000 LAMC3 10319 broad.mit.edu 37 9 133960933 133960933 + Silent SNP G G T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr9:133960933G>T uc004caa.1 + 25 4151 c.4053G>T c.(4051-4053)CGG>CGT p.R1351R LAMC3_uc010mze.1_Intron NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1351 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGTTTCCCCGGCCCAAGGACC 0.627000 AFF2 2334 broad.mit.edu 37 X 147743964 147743964 + Missense_Mutation SNP C C T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chrX:147743964C>T uc004fcp.2 + 3 1195 c.716C>T c.(715-717)CCG>CTG p.P239L AFF2_uc004fco.2_Missense_Mutation_p.P235L|AFF2_uc004fcq.2_Missense_Mutation_p.P235L|AFF2_uc004fcr.2_Missense_Mutation_p.P235L|AFF2_uc011mxb.1_Missense_Mutation_p.P239L|AFF2_uc004fcs.2_Missense_Mutation_p.P235L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 239 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TCCAATTCACCGGAAGAATCT 0.453000 WFIKKN1 117166 broad.mit.edu 37 16 683929 683930 + Frame_Shift_Ins INS - - T TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr16:683929_683930insT uc002cht.1 + 2 1761_1762 c.1519_1520insT c.(1519-1521)GTGfs p.V507fs WFIKKN1_uc002chs.1_3'UTR|uc010uuk.1_5'Flank NM_053284 NP_444514 Q96NZ8 WFKN1_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz 507 NTR. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity 0 Hepatocellular(780;0.00335) CATGGGTGAGGTGCGCGATGGC 0.683 CMPK1 51727 broad.mit.edu 37 1 47834143 47834144 + Frame_Shift_Ins INS - - AT TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr1:47834142_47834143A>AAT uc001cri.3 + 1 322_323 c.173_174A>AAT c.(172-174)aaafs p.K58fs CMPK1_uc010omp.2_Intron|CMPK1_uc010omq.2_Non-coding_Transcript NM_016308 NP_057392 P30085 KCY_HUMAN Homo sapiens cytidine monophosphate (UMP-CMP) kinase 1, cytosolic (CMPK1), transcript variant 1, mRNA. 26 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2) 8 Gemcitabine(DB00441) TTCTTTCAGAAATATGGCTACA 0.347 FANCM 57697 broad.mit.edu 37 14 45645902 45645903 + Frame_Shift_Ins INS - - A TCGA-IN-7808-01A-11D-2201-08 TCGA-IN-7808-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx be1f362d-e971-44b7-bcbb-6f9847d2089f ddee461d-502d-40a9-8be0-9d50824f4199 g.chr14:45645901_45645902C>CA uc001wwd.4 + 13 4043_4044 c.3944_3945C>CA c.(3943-3945)gcafs p.A1315fs FANCM_uc010anf.3_Frame_Shift_Ins_p.A1289fs|FANCM_uc001wwe.4_Frame_Shift_Ins_p.A851fs|FANCM_uc010ang.3_Frame_Shift_Ins_p.A529fs NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 1315 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 CTGAGTGCAGCAAAAAATGAAG 0.327 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia