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 HIVEP3 59269 broad.mit.edu 37 1 41979398 41979398 + Missense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:41979398C>A uc001cgz.3 - 8 6707 c.5494G>T c.(5494-5496)GAC>TAC p.D1832Y HIVEP3_uc001cha.3_Missense_Mutation_p.D1832Y|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1832 Acidic 3. 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) CCTTCCGAGTCCTGGAACAGG 0.562000 FGGY 55277 broad.mit.edu 37 1 60073530 60073530 + Missense_Mutation SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:60073530T>A uc001czi.3 + 9 1171 c.959T>A c.(958-960)ATG>AAG p.M320K FGGY_uc001czg.2_Missense_Mutation_p.M208K|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.M320K|FGGY_uc001czj.3_Missense_Mutation_p.M319K|FGGY_uc001czk.3_Missense_Mutation_p.M208K|FGGY_uc001czl.3_Missense_Mutation_p.M232K|FGGY_uc001czm.3_Missense_Mutation_p.M21K NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 320 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) TTCTCAGCCATGGTACCTGGG 0.438000 DOCK7 85440 broad.mit.edu 37 1 63119745 63119745 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:63119745C>T uc001daq.2 - 3 264 c.230G>A c.(229-231)CGG>CAG p.R77Q DOCK7_uc001dan.2_5'Flank|DOCK7_uc001dao.2_5'Flank|DOCK7_uc001dap.2_Missense_Mutation_p.R77Q|DOCK7_uc009wah.1_Missense_Mutation_p.R77Q NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 77 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 AATCAAATCCCGTAAAGGCCC 0.433000 SERBP1 26135 broad.mit.edu 37 1 67895811 67895811 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:67895811G>A uc001ddv.2 - 1 313 c.173C>T c.(172-174)GCG>GTG p.A58V SERBP1_uc001ddx.2_Missense_Mutation_p.A58V|SERBP1_uc001ddy.2_Missense_Mutation_p.A58V|SERBP1_uc001ddw.2_Missense_Mutation_p.A58V NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 58 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 GGTCTGGGCCGCGGCCTGAGC 0.657000 TMEM56 148534 broad.mit.edu 37 1 95609526 95609526 + Missense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:95609526C>A uc001drb.2 + 2 360 c.69C>A c.(67-69)TTC>TTA p.F23L RWDD3_uc001drd.3_Missense_Mutation_p.F23L|TMEM56_uc001drc.2_Missense_Mutation_p.F23L NM_152487 NP_689700 Q96MV1 TMM56_HUMAN transmembrane protein 56 23 Helical; (Potential). integral to membrane 0 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) AGCTTCTTTTCTACTTTGTAA 0.353000 NTNG1 22854 broad.mit.edu 37 1 107691262 107691262 + Missense_Mutation SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:107691262T>A uc001dvh.3 + 2 765 c.47T>A c.(46-48)GTG>GAG p.V16E NTNG1_uc001dvf.3_Missense_Mutation_p.V16E|NTNG1_uc010out.1_Missense_Mutation_p.V16E|NTNG1_uc001dvc.3_Missense_Mutation_p.V16E|NTNG1_uc001dvd.1_Missense_Mutation_p.V16E NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 16 axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TGGGTTACGGTGTCCTCAGTG 0.418000 STXBP3 6814 broad.mit.edu 37 1 109342845 109342845 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:109342845G>A uc001dvy.2 + 17 1528 c.1453G>A c.(1453-1455)GCT>ACT p.A485T STXBP3_uc001dvz.2_RNA NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 485 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TCCTTAGGATGCTATTGATAA 0.358000 FLG2 388698 broad.mit.edu 37 1 152328248 152328248 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:152328248C>T uc001ezw.3 - 3 2087 c.2014G>A c.(2014-2016)GTT>ATT p.V672I uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 672 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCAGAAACATGTTGTCCA 0.483000 OR10Z1 128368 broad.mit.edu 37 1 158576420 158576420 + Silent SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:158576420C>A uc010pio.1 + 1 192 c.192C>A c.(190-192)TCC>TCA p.S64S NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TCTTCCTTTCCTTCCTATCCT 0.522000 FAM5B 57795 broad.mit.edu 37 1 177250031 177250031 + Missense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:177250031G>C uc001glf.2 + 8 2031 c.1719G>C c.(1717-1719)CAG>CAC p.Q573H FAM5B_uc001glg.2_Missense_Mutation_p.Q468H NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 573 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TGTCCTTGCAGATCTGTCTCA 0.567000 PTPRC 5788 broad.mit.edu 37 1 198719669 198719669 + Nonsense_Mutation SNP G G T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:198719669G>T uc001gur.1 + 29 3295 c.3115G>T c.(3115-3117)GAG>TAG p.E1039* PTPRC_uc001gus.1_Nonsense_Mutation_p.E991*|PTPRC_uc001gut.1_Nonsense_Mutation_p.E878* NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1039 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 ACCACTGAAGGAGACCATTGG 0.418000 C1orf116 79098 broad.mit.edu 37 1 207198408 207198408 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:207198408C>T uc001hfd.2 - 3 366 c.107G>A c.(106-108)AGT>AAT p.S36N C1orf116_uc009xcb.1_Translation_Start_Site NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 36 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) GCTGCTATCACTCTGTTGGGT 0.368000 RYR2 6262 broad.mit.edu 37 1 237774171 237774171 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:237774171G>A uc001hyl.1 + 36 4913 c.4793G>A c.(4792-4794)AGA>AAA p.R1598K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1598 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGTGGAGCAGAATGCCCAAC 0.547000 MAP1LC3C 440738 broad.mit.edu 37 1 242159615 242159615 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:242159615G>A uc001hzk.2 - 4 369 c.294C>T c.(292-294)AGC>AGT p.S98S NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 98 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCATGGTTGCGCTCATGCTGA 0.567000 CEP170 9859 broad.mit.edu 37 1 243328999 243328999 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:243328999C>T uc001hzs.2 - 13 2671 c.2263G>A c.(2263-2265)GAG>AAG p.E755K CEP170_uc001hzt.2_Missense_Mutation_p.E657K|CEP170_uc001hzu.2_Missense_Mutation_p.E657K|CEP170_uc001hzv.1_Missense_Mutation_p.E133K NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 755 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TGAGCCTCCTCCCTTTGTTCT 0.393000 C10orf18 54906 broad.mit.edu 37 10 5789022 5789022 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr10:5789022C>G uc001iij.2 + 15 4263 c.3638C>G c.(3637-3639)ACC>AGC p.T1213S C10orf18_uc001iik.2_Missense_Mutation_p.T57S NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1213 ovary(1)|central_nervous_system(1) 2 TCAGCCTCTACCACCTTGGGA 0.468000 USP54 159195 broad.mit.edu 37 10 75289641 75289641 + Missense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr10:75289641G>C uc001juo.2 - 13 1874 c.1857C>G c.(1855-1857)AGC>AGG p.S619R USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.S619R|USP54_uc010qkl.1_Missense_Mutation_p.S619R NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 619 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) AAGGTGGCTTGCTTGGTTCAT 0.468000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NDST2 8509 broad.mit.edu 37 10 75567759 75567759 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr10:75567759T>C uc001jvk.2 - 3 1192 c.388A>G c.(388-390)AAT>GAT p.N130D NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.N7D|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.N7D NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 130 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) CCATGGGTATTATCAGTCAAT 0.527000 TDRD1 56165 broad.mit.edu 37 10 115970506 115970506 + Silent SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr10:115970506C>A uc001lbg.1 + 12 1704 c.1551C>A c.(1549-1551)GGC>GGA p.G517G TDRD1_uc001lbf.2_Silent_p.G508G|TDRD1_uc001lbh.1_Silent_p.G508G|TDRD1_uc001lbi.1_Silent_p.G508G|TDRD1_uc010qsc.1_Silent_p.G178G|TDRD1_uc001lbj.2_Silent_p.G226G NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 517 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGCAAAGTGGCCGTAAGTCAG 0.363000 PDZD8 118987 broad.mit.edu 37 10 119043857 119043857 + Missense_Mutation SNP A A C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr10:119043857A>C uc001lde.1 - 5 2586 c.2387T>G c.(2386-2388)TTG>TGG p.L796W NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 796 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TCCTTCTTTCAAATATTTGAA 0.373000 PPP2R2D 55844 broad.mit.edu 37 10 133757520 133757520 + Nonsense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr10:133757520C>T uc001lks.2 + 4 670 c.427C>T c.(427-429)CGA>TGA p.R143* PPP2R2D_uc001lkr.2_Intron|PPP2R2D_uc001lkt.2_Intron|PPP2R2D_uc009yay.2_Nonsense_Mutation_p.R11* NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 176 cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) GAGTCCACGGCGAATTTTTGC 0.353000 APBB1 322 broad.mit.edu 37 11 6432549 6432549 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr11:6432549G>A uc001mdb.1 - 2 129 c.29C>T c.(28-30)TCG>TTG p.S10L APBB1_uc001mdc.1_Missense_Mutation_p.S10L|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 10 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ATTAATGGCCGACTGGCTCAG 0.617000 DAGLA 747 broad.mit.edu 37 11 61488300 61488300 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr11:61488300G>A uc001nsa.2 + 3 356 c.245G>A c.(244-246)CGC>CAC p.R82H NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 82 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CTGAGCATGCGCGGGGGCATC 0.657000 SLC3A2 6520 broad.mit.edu 37 11 62652974 62652974 + Missense_Mutation SNP C C T rs1140538 TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr11:62652974C>T uc001nwd.2 + 10 1564 c.1340C>T c.(1339-1341)GCT>GTT p.A447V SLC3A2_uc001nwb.2_Missense_Mutation_p.A478V|SLC3A2_uc001nwc.2_Missense_Mutation_p.A448V|SLC3A2_uc001nwe.2_Missense_Mutation_p.A416V|SLC3A2_uc001nwf.2_Missense_Mutation_p.A385V|SLC3A2_uc001nwg.2_Missense_Mutation_p.A346V NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 447 Extracellular (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 TTCTTGCCGGCTCAACTTCTC 0.577000 GRM5 2915 broad.mit.edu 37 11 88780628 88780628 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr11:88780628C>T uc001pcq.2 - 1 613 c.413G>A c.(412-414)CGC>CAC p.R138H GRM5_uc009yvm.2_Missense_Mutation_p.R138H|GRM5_uc009yvn.1_Missense_Mutation_p.R138H NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 138 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTTCTTGGAGCGGAAGGAAGA 0.502000 FAT3 120114 broad.mit.edu 37 11 92086577 92086577 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr11:92086577G>A uc001pdj.3 + 1 1316 c.1299G>A c.(1297-1299)CGG>CGA p.R433R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 433 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTACAGCACGGCCACTGAATA 0.413000 TCGA Ovarian(4;0.039) CD4 920 broad.mit.edu 37 12 6923370 6923370 + Missense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:6923370C>A uc001qqv.1 + 4 522 c.277C>A c.(277-279)CCC>ACC p.P93T CD4_uc009zez.1_Missense_Mutation_p.P38T|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 93 Extracellular (Potential).|Ig-like V-type. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) AGGAAACTTTCCCCTGATCAT 0.498000 FAM90A1 55138 broad.mit.edu 37 12 8375060 8375060 + Silent SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:8375060G>C uc001qui.2 - 7 1312 c.753C>G c.(751-753)CTC>CTG p.L251L FAM90A1_uc001quh.2_Silent_p.L251L NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 251 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) TGACGGCCTGGAGCAGGCCGT 0.662000 A2ML1 144568 broad.mit.edu 37 12 8988261 8988261 + Silent SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:8988261T>C uc001quz.3 + 6 740 c.642T>C c.(640-642)TAT>TAC p.Y214Y NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 58 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TGGAGGAATATGGTAGGTGGG 0.418000 KRT72 140807 broad.mit.edu 37 12 52992799 52992799 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:52992799A>G uc001sar.2 - 2 610 c.524T>C c.(523-525)ATT>ACT p.I175T KRT72_uc001saq.2_Missense_Mutation_p.I175T|KRT72_uc010sns.1_Missense_Mutation_p.I175T|KRT72_uc010snt.1_5'UTR NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 175 Linker 1.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) GCCCTCATAAATGGGCTCCAG 0.557000 HOXC10 3226 broad.mit.edu 37 12 54383121 54383121 + Missense_Mutation SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:54383121T>G uc001sen.2 + 2 1018 c.920T>G c.(919-921)CTT>CGT p.L307R uc001seo.2_5'Flank|MIR196A2_hsa-mir-196a-2|MI0000279_5'Flank NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 307 Homeobox. positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 ACCATTAACCTTACAGACAGA 0.418000 OREG0021882 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC16A7 9194 broad.mit.edu 37 12 60173407 60173407 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:60173407G>A uc001sqs.2 + 6 1683 c.1384G>A c.(1384-1386)GTC>ATC p.V462I SLC16A7_uc001sqt.2_Missense_Mutation_p.V462I|SLC16A7_uc001squ.2_Missense_Mutation_p.V462I|SLC16A7_uc009zqi.2_Missense_Mutation_p.V363I|SLC16A7_uc010ssi.1_Missense_Mutation_p.V363I NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 462 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) AGATGTTAACGTCAAAGTTTC 0.373000 MSRB3 253827 broad.mit.edu 37 12 65720710 65720710 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:65720710G>A uc001ssn.2 + 2 263 c.202G>A c.(202-204)GAA>AAA p.E68K MSRB3_uc001ssm.2_Missense_Mutation_p.E61K|MSRB3_uc009zqp.2_Missense_Mutation_p.E61K NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 isoform 1 68 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding central_nervous_system(1)|skin(1) 2 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) GAAAGGGACCGAAAGGTAAGG 0.448000 OAS3 4940 broad.mit.edu 37 12 113379501 113379501 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:113379501C>T uc001tug.2 + 2 391 c.304C>T c.(304-306)CGG>TGG p.R102W OAS3_uc001tue.2_Missense_Mutation_p.R102W|OAS3_uc001tuf.2_Missense_Mutation_p.R102W NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 102 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 CAGTGAGATGCGGGCATCGCT 0.587000 SLC46A3 283537 broad.mit.edu 37 13 29287281 29287281 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr13:29287281G>A uc001usi.2 - 2 1566 c.596C>T c.(595-597)TCG>TTG p.S199L SLC46A3_uc001usg.2_Missense_Mutation_p.S124L|SLC46A3_uc001usj.2_Missense_Mutation_p.S199L|SLC46A3_uc001ush.2_Missense_Mutation_p.S199L|SLC46A3_uc001usk.2_Missense_Mutation_p.S124L NM_181785 NP_861450 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 isoform a 199 Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(1)|skin(1) 2 Lung SC(185;0.0367) all cancers(112;0.159) AATTAGAAACGACCACTCAAA 0.353000 NAA16 79612 broad.mit.edu 37 13 41947902 41947902 + Missense_Mutation SNP A A T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr13:41947902A>T uc001uyf.2 + 18 2609 c.2285A>T c.(2284-2286)CAG>CTG p.Q762L NAA16_uc010tfg.1_RNA NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 762 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 ACCTCTCTTCAGCATCTACTT 0.363000 ERCC5 2073 broad.mit.edu 37 13 103468859 103468859 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr13:103468859C>G uc001vpu.1 + 2 682 c.560C>G c.(559-561)CCT>CGT p.P187R BIVM_uc001vps.2_Missense_Mutation_p.P187R|BIVM_uc010agc.2_5'UTR|BIVM_uc001vpt.2_Missense_Mutation_p.P187R NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein Error:Variant_position_missing_in_P28715_after_alignment negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CAGCATTCTCCTCTTGAAGAT 0.323000 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ADCY4 196883 broad.mit.edu 37 14 24788315 24788315 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr14:24788315C>T uc001wov.2 - 23 2951 c.2945G>A c.(2944-2946)CGC>CAC p.R982H ADCY4_uc001wow.2_Missense_Mutation_p.R982H|ADCY4_uc010toh.1_Missense_Mutation_p.R668H|ADCY4_uc001wox.2_Missense_Mutation_p.R982H|ADCY4_uc001woy.2_Missense_Mutation_p.R982H NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 982 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) CACTCGCAGGCGGAAGTTGTT 0.567000 PRKD1 5587 broad.mit.edu 37 14 30095727 30095727 + Silent SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr14:30095727T>C uc001wqh.2 - 12 1942 c.1761A>G c.(1759-1761)GAA>GAG p.E587E NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 587 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) AACCCAGTACTTCATCAGGAA 0.318000 NRXN3 9369 broad.mit.edu 37 14 80328211 80328211 + Silent SNP C C T rs150091542 TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr14:80328211C>T uc001xun.2 + 17 3581 c.3090C>T c.(3088-3090)TCC>TCT p.S1030S NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.S606S|NRXN3_uc010asw.2_Silent_p.S428S|NRXN3_uc001xur.3_Silent_p.S401S NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1612 Cytoplasmic (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TCAGCAACTCCGCCCAGAGCA 0.527000 RIN3 79890 broad.mit.edu 37 14 93125521 93125521 + Missense_Mutation SNP C C T rs138388973 TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr14:93125521C>T uc001yap.2 + 7 2194 c.2042C>T c.(2041-2043)TCT>TTT p.S681F RIN3_uc010auk.2_Missense_Mutation_p.S343F|RIN3_uc001yaq.2_Missense_Mutation_p.S606F|RIN3_uc001yar.1_Missense_Mutation_p.S343F|RIN3_uc001yas.1_Missense_Mutation_p.S343F NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 681 Interaction with RAB5B. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) ATTGTAGAGTCTGCCTTGTAC 0.532000 C15orf2 23742 broad.mit.edu 37 15 24921084 24921084 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr15:24921084G>A uc001ywo.2 + 1 544 c.70G>A c.(70-72)GCC>ACC p.A24T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 24 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGGGCGTGGCGCCCCCGCTCC 0.692000 WDR72 256764 broad.mit.edu 37 15 53815461 53815461 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr15:53815461C>T uc002acj.2 - 19 3249 c.3207G>A c.(3205-3207)GTG>GTA p.V1069V WDR72_uc010bfh.1_RNA NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1069 lung(1)|skin(1) 2 all cancers(107;0.0511) GCATGTCCTCCACGTCTTGGA 0.358000 TP53 7157 broad.mit.edu 37 17 7577532 7577532 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:7577532G>A uc002gim.2 - 7 943 c.749C>T c.(748-750)CCC>CTC p.P250L TP53_uc002gig.1_Missense_Mutation_p.P250L|TP53_uc002gih.2_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 250 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> L (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|RP -> SS (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P250L(37)|p.P250S(12)|p.0?(7)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.P250A(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250H(1)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250T(1)|p.P250_T253delPILT(1)|p.R249_P250insR(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.P250_I251insXXXXXXX(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)|p.P250fs*14(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) GGTGAGGATGGGCCTCCGGTT 0.577000 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) HS3ST3A1 9955 broad.mit.edu 37 17 13400097 13400097 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:13400097A>G uc002gob.1 - 2 1436 c.638T>C c.(637-639)ATG>ACG p.M213T NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN heparan sulfate D-glucosaminyl 213 Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity ovary(1)|central_nervous_system(1) 2 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CGTCTTCTCCATGGTGATCTG 0.607000 HS3ST3B1 9953 broad.mit.edu 37 17 14248383 14248383 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:14248383T>C uc002goh.1 + 2 923 c.593T>C c.(592-594)ATG>ACG p.M198T NM_006041 NP_006032 Q9Y662 HS3SB_HUMAN heparan sulfate D-glucosaminyl 198 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CAGATCACCATGGAGAAGACG 0.612000 ZNF624 57547 broad.mit.edu 37 17 16525840 16525840 + Missense_Mutation SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:16525840T>G uc010cpi.1 - 6 2443 c.2360A>C c.(2359-2361)AAG>ACG p.K787T NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 787 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AATACAACCCTTTCCACATTC 0.438000 RHOT1 55288 broad.mit.edu 37 17 30521045 30521045 + Missense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:30521045G>C uc002hgz.2 + 11 1027 c.788G>C c.(787-789)AGA>ACA p.R263T RHOT1_uc002hgw.2_Missense_Mutation_p.R263T|RHOT1_uc002hgy.2_Missense_Mutation_p.R263T|RHOT1_uc002hha.2_Missense_Mutation_p.R136T|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.R136T|RHOT1_uc010wby.1_Missense_Mutation_p.R263T|RHOT1_uc002hhb.2_Missense_Mutation_p.R242T|RHOT1_uc002hgv.2_Missense_Mutation_p.R263T NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 263 Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) CAGAGAGGGAGACACGAAACT 0.363000 C17orf102 400591 broad.mit.edu 37 17 32906083 32906083 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:32906083T>C uc002hie.1 - 1 306 c.217A>G c.(217-219)ACC>GCC p.T73A TMEM132E_uc002hif.2_5'Flank NM_207454 NP_997337 A2RUQ5 CQ102_HUMAN hypothetical protein LOC400591 73 ovary(1) 1 GGGGTGGGGGTAGGGTGCCCC 0.682000 AARSD1 80755 broad.mit.edu 37 17 41102638 41102638 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:41102638T>C uc002icc.2 - 12 1214 c.1211A>G c.(1210-1212)TAC>TGC p.Y404C AARSD1_uc002icd.2_Missense_Mutation_p.Y517C|AARSD1_uc002ice.2_Missense_Mutation_p.Y487C|AARSD1_uc002icf.2_Missense_Mutation_p.Y578C|AARSD1_uc010whg.1_Missense_Mutation_p.Y578C NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 404 alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CGTGCTGATGTAGTCCTGGAG 0.537000 BRCA1 672 broad.mit.edu 37 17 41245963 41245963 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:41245963G>A uc002icq.2 - 10 1817 c.1585C>T c.(1585-1587)CCT>TCT p.P529S BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.P458S|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.P482S|BRCA1_uc002ict.2_Missense_Mutation_p.P529S|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.P529S|BRCA1_uc002ide.1_Missense_Mutation_p.P360S|BRCA1_uc010cyy.1_Missense_Mutation_p.P529S|BRCA1_uc010whs.1_Missense_Mutation_p.P529S|BRCA1_uc010cyz.2_Missense_Mutation_p.P482S|BRCA1_uc010cza.2_Missense_Mutation_p.P503S|BRCA1_uc010wht.1_Missense_Mutation_p.P233S NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 529 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) ATCATTTCAGGAGTCTTTTGA 0.378000 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) USP32 84669 broad.mit.edu 37 17 58299833 58299833 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:58299833G>A uc002iyo.1 - 15 1972 c.1686C>T c.(1684-1686)GTC>GTT p.V562V USP32_uc002iyn.1_Silent_p.V232V NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 562 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CAGGTTCTGGGACCATTTCAT 0.413000 C17orf77 146723 broad.mit.edu 37 17 72588276 72588276 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr17:72588276T>C uc002jla.1 + 3 453 c.91T>C c.(91-93)TGC>CGC p.C31R CD300LD_uc002jkz.2_Intron NM_152460 NP_689673 Q96MU5 CQ077_HUMAN hypothetical protein LOC146723 31 extracellular region 0 GTCATTCCAGTGCCTTAAAGC 0.547000 OSBPL1A 114876 broad.mit.edu 37 18 21894248 21894248 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr18:21894248G>A uc002kve.2 - 12 1108 c.934C>T c.(934-936)CGG>TGG p.R312W OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Missense_Mutation_p.R92W NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 312 PH. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTAGGAACCCGGAAGCCATGA 0.363000 ZBTB7C 201501 broad.mit.edu 37 18 45566902 45566902 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr18:45566902C>G uc002lda.2 - 1 593 c.577G>C c.(577-579)GAC>CAC p.D193H ZBTB7C_uc002ldb.2_Missense_Mutation_p.D193H|ZBTB7C_uc010dnu.2_Missense_Mutation_p.D202H|ZBTB7C_uc010dnv.2_Missense_Mutation_p.D215H|ZBTB7C_uc010dnw.2_Missense_Mutation_p.D193H|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dny.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D215H|ZBTB7C_uc010dob.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doc.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dod.1_Missense_Mutation_p.D215H|ZBTB7C_uc010doe.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dof.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dog.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doh.1_Missense_Mutation_p.D202H|ZBTB7C_uc010doi.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doj.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dok.1_Missense_Mutation_p.D242H|ZBTB7C_uc010dol.1_Missense_Mutation_p.D202H|ZBTB7C_uc010doa.1_Missense_Mutation_p.D215H|ZBTB7C_uc010don.1_Missense_Mutation_p.D201H|ZBTB7C_uc010doo.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dop.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doq.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dor.1_Missense_Mutation_p.D215H|ZBTB7C_uc010dos.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dot.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dou.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dom.1_Missense_Mutation_p.D202H NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 193 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GTGAGATGGTCTGTCTTGGAA 0.537000 ATP8B1 5205 broad.mit.edu 37 18 55362738 55362738 + Nonsense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr18:55362738G>C uc002lgw.2 - 8 725 c.725C>G c.(724-726)TCA>TGA p.S242* uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 242 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) GATTTCAAGTGACATCTTAAA 0.308000 Byler_disease ZNF532 55205 broad.mit.edu 37 18 56646352 56646352 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr18:56646352G>A uc002lho.2 + 9 3763 c.3216G>A c.(3214-3216)CGG>CGA p.R1072R ZNF532_uc002lhp.2_Silent_p.R1070R|ZNF532_uc010xeg.1_Silent_p.R1070R|ZNF532_uc002lhr.2_Silent_p.R1070R|ZNF532_uc002lhs.2_Silent_p.R1070R|ZNF532_uc010xeh.1_Silent_p.R164R NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1072 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 GCCTGTGCCGGCACAACCGGA 0.532000 RDH8 50700 broad.mit.edu 37 19 10129585 10129585 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr19:10129585G>A uc002mmr.2 + 3 690 c.441G>A c.(439-441)CAG>CAA p.Q147Q NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 147 Helical; (Potential). estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) TGGGCCTGCAGGGTGAGCTGT 0.552000 DNMT1 1786 broad.mit.edu 37 19 10273405 10273405 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr19:10273405C>T uc002mng.2 - 12 1078 c.898G>A c.(898-900)GAA>AAA p.E300K DNMT1_uc010xlc.1_Missense_Mutation_p.E316K|DNMT1_uc002mnh.2_Missense_Mutation_p.E195K|DNMT1_uc010xld.1_Missense_Mutation_p.E300K|DNMT1_uc002mnk.2_RNA NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 300 Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCTTTTTCTTCGGGCCTCCGT 0.408000 CACNA1A 773 broad.mit.edu 37 19 13411396 13411396 + Silent SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr19:13411396A>G uc010dze.2 - 18 2486 c.2250T>C c.(2248-2250)AGT>AGC p.S750S CACNA1A_uc010dzc.2_Silent_p.S275S|CACNA1A_uc002mwy.3_Silent_p.S749S|CACNA1A_uc010xne.1_Silent_p.S278S NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 750 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGGACAGAGGACTCACTTCTG 0.527000 WIZ 58525 broad.mit.edu 37 19 15559049 15559049 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr19:15559049G>A uc002nbb.3 - 2 284 c.70C>T c.(70-72)CCG>TCG p.P24S MIR1470_hsa-mir-1470|MI0007075_5'Flank NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1105 Pro-rich. nucleus zinc ion binding 0 CTTGGCGCCGGGCCAGGCAGT 0.647000 ZNF599 148103 broad.mit.edu 37 19 35250430 35250430 + Nonsense_Mutation SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr19:35250430T>A uc010edn.1 - 4 1664 c.1276A>T c.(1276-1278)AAA>TAA p.K426* ZNF599_uc010edm.1_Nonsense_Mutation_p.K389* NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 426 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CCACATTCTTTGCACTCAAAG 0.473000 IAH1 285148 broad.mit.edu 37 2 9624561 9624561 + Missense_Mutation SNP G G T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr2:9624561G>T uc002qzr.2 + 5 472 c.446G>T c.(445-447)GGT>GTT p.G149V IAH1_uc002qzs.2_Missense_Mutation_p.G36V|IAH1_uc002qzt.2_Missense_Mutation_p.G36V|IAH1_uc010yiz.1_RNA NM_001039613 NP_001034702 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog 149 lipid catabolic process hydrolase activity, acting on ester bonds 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTTCAATAGGTTGCAAACTA 0.458000 TET3 200424 broad.mit.edu 37 2 74328640 74328640 + Silent SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr2:74328640G>C uc002skb.3 + 9 4320 c.4320G>C c.(4318-4320)CTG>CTC p.L1440L NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 1440 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CCAGCCAGCTGGACAGGGCCT 0.612000 XIRP2 129446 broad.mit.edu 37 2 168104460 168104460 + Silent SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr2:168104460T>G uc002udx.2 + 8 6576 c.6558T>G c.(6556-6558)ACT>ACG p.T2186T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T2011T|XIRP2_uc010fpq.2_Silent_p.T1964T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2011 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGAAGCAAACTTTGTTAAAGC 0.408000 XIRP2 129446 broad.mit.edu 37 2 168107180 168107180 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr2:168107180G>A uc002udx.2 + 8 9296 c.9278G>A c.(9277-9279)CGT>CAT p.R3093H XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2918H|XIRP2_uc010fpq.2_Missense_Mutation_p.R2871H|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2918 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GCAACTGTTCGTAGTCACGTG 0.378000 PGAP1 80055 broad.mit.edu 37 2 197708744 197708744 + Nonsense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr2:197708744G>C uc002utw.2 - 25 2507 c.2393C>G c.(2392-2394)TCA>TGA p.S798* PGAP1_uc002utx.2_Nonsense_Mutation_p.S624*|PGAP1_uc010fsi.2_Nonsense_Mutation_p.S72* NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 798 Cytoplasmic (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 ATGGTGTATTGAGGAGTCTTT 0.348000 NBEAL1 65065 broad.mit.edu 37 2 204000806 204000806 + Missense_Mutation SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr2:204000806T>A uc002uzt.3 + 27 4466 c.4133T>A c.(4132-4134)ATT>AAT p.I1378N NBEAL1_uc002uzs.3_Missense_Mutation_p.I88N NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1378 binding ovary(1)|skin(1) 2 CTCAGTGGAATTGACTCATGT 0.433000 NEU4 129807 broad.mit.edu 37 2 242758315 242758315 + Missense_Mutation SNP G G A rs144038379 by1000genomes TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr2:242758315G>A uc010fzr.2 + 4 1482 c.1396G>A c.(1396-1398)GCC>ACC p.A466T NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.A466T|NEU4_uc002wcn.1_Missense_Mutation_p.A478T|NEU4_uc002wco.1_Missense_Mutation_p.A466T|NEU4_uc002wcp.1_Missense_Mutation_p.A478T NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 466 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GAACGTGCCCGCCAGCCCCAA 0.642000 HSPA12B 116835 broad.mit.edu 37 20 3726571 3726571 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr20:3726571G>A uc002wjd.2 + 7 671 c.568G>A c.(568-570)GAG>AAG p.E190K HSPA12B_uc010zqi.1_Missense_Mutation_p.E189K|HSPA12B_uc002wje.2_Missense_Mutation_p.E103K|HSPA12B_uc010zqj.1_Missense_Mutation_p.E24K NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 190 ATP binding 0 GGAGCTGAGGGAGCAGAGCCC 0.602000 BCL2L13 23786 broad.mit.edu 37 22 18209612 18209612 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr22:18209612C>T uc002zmw.2 + 7 988 c.770C>T c.(769-771)TCA>TTA p.S257L BCL2L13_uc002zmx.2_Missense_Mutation_p.S95L|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.S95L|BCL2L13_uc011agk.1_Missense_Mutation_p.S133L|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_Missense_Mutation_p.S95L|BCL2L13_uc002zna.2_5'UTR NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 257 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) GTGTCACTGTCAGCTAGCCAG 0.527000 BCL2L13 23786 broad.mit.edu 37 22 18209747 18209747 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr22:18209747C>G uc002zmw.2 + 7 1123 c.905C>G c.(904-906)TCC>TGC p.S302C BCL2L13_uc002zmx.2_Missense_Mutation_p.S140C|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.S140C|BCL2L13_uc011agk.1_Missense_Mutation_p.S178C|BCL2L13_uc010gqz.2_Missense_Mutation_p.S22C|BCL2L13_uc002zmz.2_Missense_Mutation_p.S140C|BCL2L13_uc002zna.2_Missense_Mutation_p.S22C NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 302 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) GAGAACAACTCCTCTAATTCT 0.537000 SGSM1 129049 broad.mit.edu 37 22 25313668 25313668 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr22:25313668A>G uc003abg.2 + 24 3294 c.3137A>G c.(3136-3138)GAC>GGC p.D1046G SGSM1_uc003abh.2_Missense_Mutation_p.D985G|SGSM1_uc010guu.1_Missense_Mutation_p.D991G|SGSM1_uc003abj.2_Missense_Mutation_p.D930G|SGSM1_uc003abi.1_Missense_Mutation_p.D966G NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 1046 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 CAGAACGGGGACTATACTCAC 0.502000 ZNRF3 84133 broad.mit.edu 37 22 29445281 29445281 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr22:29445281G>A uc003aeg.2 + 8 977 c.812G>A c.(811-813)CGC>CAC p.R271H ZNRF3_uc003aeh.1_Missense_Mutation_p.R271H NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 371 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 TACCCCGGCCGCGTGCACAGG 0.642000 CNTN3 5067 broad.mit.edu 37 3 74351856 74351856 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:74351856C>G uc003dpm.1 - 13 1851 c.1771G>C c.(1771-1773)GAC>CAC p.D591H NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 591 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACTATGAGGTCAGCAGCAGAT 0.403000 OR5H14 403273 broad.mit.edu 37 3 97869090 97869090 + Silent SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:97869090C>G uc003dsg.1 + 1 861 c.861C>G c.(859-861)CCC>CCG p.P287P NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TATTAAATCCCATGATCTACA 0.363000 ZBED2 79413 broad.mit.edu 37 3 111312961 111312961 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:111312961C>G uc003dxy.2 - 2 973 c.88G>C c.(88-90)GAG>CAG p.E30Q CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN zinc finger, BED domain containing 2 30 DNA binding|metal ion binding skin(1) 1 TCTCCTGTCTCACTAATCTCT 0.512000 PHLDB2 90102 broad.mit.edu 37 3 111659435 111659435 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:111659435G>A uc010hqa.2 + 8 2751 c.2340G>A c.(2338-2340)CAG>CAA p.Q780Q PHLDB2_uc003dyc.2_Silent_p.Q764Q|PHLDB2_uc003dyd.2_Silent_p.Q737Q|PHLDB2_uc003dyg.2_Silent_p.Q780Q|PHLDB2_uc003dyh.2_Silent_p.Q737Q|PHLDB2_uc003dyi.2_Silent_p.Q366Q NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 780 Potential. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AGCAGGCTCAGAGAGAGCAAG 0.348000 WDR52 55779 broad.mit.edu 37 3 113120574 113120574 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:113120574C>T uc003eae.1 - 10 1229 c.1183G>A c.(1183-1185)GAG>AAG p.E395K NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 395 WD 4. central_nervous_system(1) 1 TCTATTGTCTCAAAATCCCAT 0.313000 GOLGB1 2804 broad.mit.edu 37 3 121445864 121445864 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:121445864C>T uc003eei.3 - 5 553 c.427G>A c.(427-429)GAG>AAG p.E143K GOLGB1_uc010hrc.2_Missense_Mutation_p.E143K|GOLGB1_uc003eej.3_Missense_Mutation_p.E104K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E104K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E143K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 143 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) ATTTCCATCTCTTCCTCTGTA 0.348000 NDST3 9348 broad.mit.edu 37 4 119059215 119059215 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr4:119059215G>A uc003ibx.2 + 5 1634 c.1231G>A c.(1231-1233)GGC>AGC p.G411S NDST3_uc011cgf.1_Missense_Mutation_p.G330S NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 411 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 TTAGGAGCACGGCATTCCAAC 0.418000 SCAND3 114821 broad.mit.edu 37 6 28543037 28543037 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr6:28543037C>G uc003nlo.2 - 3 2063 c.1445G>C c.(1444-1446)AGG>ACG p.R482T NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 482 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGAGAAAATCCTCTTTCGGAT 0.423000 ITPR3 3710 broad.mit.edu 37 6 33652629 33652629 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr6:33652629A>G uc011drk.1 + 39 5435 c.5216A>G c.(5215-5217)GAC>GGC p.D1739G ITPR3_uc003oey.2_5'Flank NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 1739 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TTGGTATGCGACCTCATCACC 0.627000 EYS 346007 broad.mit.edu 37 6 66063378 66063378 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr6:66063378C>T uc011dxu.1 - 9 1970 c.1432G>A c.(1432-1434)GAA>AAA p.E478K EYS_uc003peq.2_Missense_Mutation_p.E478K|EYS_uc003per.1_Missense_Mutation_p.E478K NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 478 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CACACATATTCAAATTGAGCA 0.343000 KHDC1 80759 broad.mit.edu 37 6 73952192 73952192 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr6:73952192G>A uc003pgo.2 - 3 769 c.268C>T c.(268-270)CCT>TCT p.P90S KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Missense_Mutation_p.P17S NM_030568 NP_085045 Q4VXA5 KHDC1_HUMAN KH homology domain containing 1 90 integral to membrane RNA binding skin(1) 1 AAGTTTTGAGGCAGGGTCCAC 0.542000 MRAP2 112609 broad.mit.edu 37 6 84798909 84798909 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr6:84798909C>T uc003pkg.3 + 4 517 c.327C>T c.(325-327)AAC>AAT p.N109N MRAP2_uc010kbo.2_Silent_p.N23N NM_138409 NP_612418 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 109 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding skin(2) 2 GCCAAGGCAACGAGGAGTCCA 0.498000 GRIK2 2898 broad.mit.edu 37 6 102247533 102247533 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr6:102247533C>T uc003pqp.3 + 7 1211 c.962C>T c.(961-963)GCT>GTT p.A321V GRIK2_uc003pqn.2_Missense_Mutation_p.A321V|GRIK2_uc003pqo.3_Missense_Mutation_p.A321V|GRIK2_uc010kcw.2_Missense_Mutation_p.A321V NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 321 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ACTGATGCTGCTCTAATGTAT 0.448000 PERP 64065 broad.mit.edu 37 6 138428360 138428360 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr6:138428360C>T uc003qht.2 - 1 301 c.118G>A c.(118-120)GAC>AAC p.D40N NM_022121 NP_071404 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector 40 apoptosis|cell adhesion desmosome|Golgi apparatus|integral to membrane|nucleus 0 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) TGGCCGTGGTCGCTAGACTGC 0.677000 C7orf70 84792 broad.mit.edu 37 7 6370486 6370486 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr7:6370486C>T uc003spu.2 - 2 768 c.300G>A c.(298-300)CCG>CCA p.P100P NM_001037163 NP_001032240 Q7Z4H9 SIPAR_HUMAN hypothetical protein LOC84792 100 nucleus 0 CGGCTGTGCTCGGAGTGGCTG 0.597000 OGDH 4967 broad.mit.edu 37 7 44687316 44687316 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr7:44687316T>C uc003tln.2 + 4 584 c.475T>C c.(475-477)TCC>CCC p.S159P OGDH_uc003tlm.2_Missense_Mutation_p.S159P|OGDH_uc011kbx.1_Intron|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Intron|OGDH_uc011kbz.1_Silent_p.T5T|OGDH_uc003tlo.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 159 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TGATCTGGACTCCTCCGTGCC 0.557000 PTPRZ1 5803 broad.mit.edu 37 7 121653684 121653684 + Silent SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr7:121653684T>C uc003vjy.2 + 12 4979 c.4584T>C c.(4582-4584)AGT>AGC p.S1528S PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1528 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 AGACTGGTAGTGCTCTGCTTC 0.448000 ERICH1 157697 broad.mit.edu 37 8 642594 642594 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr8:642594G>A uc003wph.2 - 3 253 c.188C>T c.(187-189)CCG>CTG p.P63L ERICH1_uc011kwh.1_Missense_Mutation_p.P63L|ERICH1_uc003wpe.1_Intron NM_207332 NP_997215 Q86X53 ERIC1_HUMAN glutamate-rich 1 63 large_intestine(2) 2 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TCGGGCAGTCGGGGTCTCAGA 0.567000 ZFHX4 79776 broad.mit.edu 37 8 77767078 77767078 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr8:77767078G>A uc003yav.2 + 10 8173 c.7786G>A c.(7786-7788)GAA>AAA p.E2596K ZFHX4_uc003yau.1_Missense_Mutation_p.E2641K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E2596K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2596 Homeobox 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TATTGCCCGCGAAGTCGGGCT 0.512000 HNSCC(33;0.089) ZFAT 57623 broad.mit.edu 37 8 135614852 135614852 + Missense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr8:135614852G>C uc003yup.2 - 6 1285 c.1110C>G c.(1108-1110)ATC>ATG p.I370M ZFAT_uc003yun.2_Missense_Mutation_p.I358M|ZFAT_uc003yuo.2_Missense_Mutation_p.I358M|ZFAT_uc010meh.2_Missense_Mutation_p.I358M|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.I358M|ZFAT_uc010mej.2_Missense_Mutation_p.I308M|ZFAT_uc003yur.2_Missense_Mutation_p.I358M NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 370 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGATGTGCTTGATGAGGTTCT 0.567000 TRAPPC9 83696 broad.mit.edu 37 8 141415757 141415757 + Silent SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr8:141415757A>G uc003yvj.2 - 6 1061 c.927T>C c.(925-927)ACT>ACC p.T309T TRAPPC9_uc003yvh.2_Silent_p.T407T|TRAPPC9_uc003yvi.1_Silent_p.T300T NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 309 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 GTCCGATCTCAGTACTGGTGT 0.408000 SLC45A4 57210 broad.mit.edu 37 8 142229090 142229090 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr8:142229090C>G uc003ywd.1 - 4 804 c.496G>C c.(496-498)GAC>CAC p.D166H SLC45A4_uc003ywc.1_Missense_Mutation_p.D166H|SLC45A4_uc010meq.1_Missense_Mutation_p.D164H NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 217 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGGGTCCAGTCCAGCCCACCC 0.667000 CPSF1 29894 broad.mit.edu 37 8 145621891 145621891 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr8:145621891G>A uc003zcj.2 - 25 2823 c.2748C>T c.(2746-2748)GGC>GGT p.G916G NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 916 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCTCTGCGCCGCCACCTTCTG 0.627000 FLJ46321 389763 broad.mit.edu 37 9 84607898 84607898 + Missense_Mutation SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr9:84607898T>G uc004amn.2 + 4 2560 c.2513T>G c.(2512-2514)TTT>TGT p.F838C NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 838 integral to membrane 0 AGCAAGAAATTTGAGGAAATC 0.448000 FAM120A 23196 broad.mit.edu 37 9 96214522 96214522 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr9:96214522G>A uc004atw.2 + 1 350 c.325G>A c.(325-327)GTC>ATC p.V109I FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120AOS_uc004atu.3_Missense_Mutation_p.T157I|FAM120A_uc004atv.2_Missense_Mutation_p.V109I NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 109 cytoplasm|plasma membrane RNA binding 0 GCACGAGTGGGTCAAGCGGCA 0.667000 RGS3 5998 broad.mit.edu 37 9 116346512 116346512 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr9:116346512G>A uc004bhq.2 + 21 3029 c.2820G>A c.(2818-2820)CGG>CGA p.R940R RGS3_uc004bhs.2_Silent_p.R830R|RGS3_uc004bht.2_Silent_p.R659R|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Silent_p.R261R|RGS3_uc010muz.1_Silent_p.R279R|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Silent_p.R250R|RGS3_uc004bhx.2_Silent_p.R261R|RGS3_uc004bhy.1_Silent_p.R250R|RGS3_uc004bhz.2_Silent_p.R282R NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 940 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 TGCGGCGCCGGACGCACAGCG 0.697000 DFNB31 25861 broad.mit.edu 37 9 117185721 117185721 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr9:117185721A>G uc004biz.3 - 7 2148 c.1499T>C c.(1498-1500)ATT>ACT p.I500T DFNB31_uc004bix.2_Missense_Mutation_p.I149T|DFNB31_uc004biy.3_Missense_Mutation_p.I117T|DFNB31_uc004bja.3_Missense_Mutation_p.I500T NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 500 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 CATGGACTCAATCTCACGCCT 0.622000 HUWE1 10075 broad.mit.edu 37 X 53564520 53564520 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chrX:53564520C>T uc004dsp.2 - 78 12536 c.12134G>A c.(12133-12135)CGA>CAA p.R4045Q HUWE1_uc004dsn.2_Missense_Mutation_p.R2853Q|HUWE1_uc004dsq.1_Missense_Mutation_p.R345Q NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4045 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CCCTTACAATCGATTCTTCAT 0.537000 NRK 203447 broad.mit.edu 37 X 105197150 105197150 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chrX:105197150C>T uc004emd.2 + 28 4941 c.4638C>T c.(4636-4638)TGC>TGT p.C1546C NRK_uc011msi.1_Silent_p.C127C NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1546 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GATTCCTGTGCACCCGGGGTG 0.463000 HNSCC(51;0.14) MTX1 4580 broad.mit.edu 37 1 155179076 155179076 + Frame_Shift_Del DEL G G - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:155179076delG uc001fjb.2 + 1 587 c.481delG c.(481-483)GGGfs p.G161fs RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Frame_Shift_Del_p.G161fs NM_002455 NP_002446 Q13505 MTX1_HUMAN metaxin 1 isoform 1 161 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding skin(1) 1 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTGCTGGTCAGGGGGCTGGGG 0.706 TPPP3 51673 broad.mit.edu 37 16 67424253 67424254 + Frame_Shift_Del DEL CT CT - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr16:67424253_67424254delCT uc002esz.2 - 3 1189_1190 c.354_355delAG c.(352-357)ACAGGGfs p.T118fs TPPP3_uc002eta.2_Frame_Shift_Del_p.T118fs|TPPP3_uc002etb.2_Frame_Shift_Del_p.T118fs NM_016140 NP_057224 Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family 118_119 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) ACAGCACCCCCTGTTTTTGCTT 0.619 ATP10B 23120 broad.mit.edu 37 5 160067471 160067472 + Frame_Shift_Ins INS - - A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr5:160067471_160067472insA uc003lym.1 - 10 1843_1844 c.996_997insT c.(994-999)GCTGTAfs p.A332fs ATP10B_uc003lyp.2_Frame_Shift_Ins_p.A332fs|ATP10B_uc011deg.1_Frame_Shift_Ins_p.A376fs|ATP10B_uc003lyo.2_Frame_Shift_Ins_p.A304fs NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 332_333 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCATACCTACAGCTCCAATAA 0.371 PIGR 5284 broad.mit.edu 37 1 207110552 207110554 + In_Frame_Del DEL CAC CAC - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr1:207110551_207110553TCAC>T uc001hez.3 - 3 1116_1118 c.932_934GTGA>A c.(931-936)gtgatc>gAtc p.311_312VI>D PIGR_uc009xbz.3_In_Frame_Del_p.311_312VI>D NM_002644 NP_002635 P01833 PIGR_HUMAN Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA. 311 Ig-like V-type 3. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGGCCTGTGATCACCACACTGAA 0.601 BIRC6 57448 broad.mit.edu 37 2 32673876 32673877 + Frame_Shift_Ins INS - - A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr2:32673875_32673876T>TA uc010ezu.3 + 21 4631_4632 c.4497_4498T>TA c.(4495-4500)tatagcfs p.Y1499fs NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 1499 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.V1499V(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATGGATTATATAGCTCACCATT 0.327 CTDSPL 10217 broad.mit.edu 37 3 38017246 38017246 + Frame_Shift_Del DEL G G - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:38017245_38017245CG>C uc003chg.3 + 6 587 c.565_565CG>C c.(565-567)cggfs p.R189fs CTDSPL_uc003chh.3_Frame_Shift_Del_p.R178fs NM_001008392 NP_001008393 O15194 CTDSL_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like (CTDSPL), transcript variant 1, mRNA. 189 FCP1 homology. nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|large_intestine(4)|skin(1) 8 Melanoma(1037;0.0122) KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902) GGGTGTGTTCCGGGCCCGGCT 0.542 USP19 10869 broad.mit.edu 37 3 49149979 49149987 + In_Frame_Del DEL AAAGCAGAG AAAGCAGAG - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:49149978_49149986CAAAGCAGAG>C uc003cwd.2 - 16 2592_2600 c.2273_2281CTCTGCTTTG>G c.(2272-2283)ctctgctttgag>cGag p.758_761LCFE>R USP19_uc003cwa.3_In_Frame_Del_p.566_569LCFE>R|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_In_Frame_Del_p.861_864LCFE>R|USP19_uc011bcg.2_In_Frame_Del_p.849_852LCFE>R|USP19_uc003cwc.2_In_Frame_Del_p.516_519LCFE>R|USP19_uc011bch.2_In_Frame_Del_p.859_862LCFE>R NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 758 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.P761>?(1) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GATAGCAGCTCAAAGCAGAGGAGCGTATC 0.555 FETUB 26998 broad.mit.edu 37 3 186370130 186370130 + Frame_Shift_Del DEL A A - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr3:186370129_186370129GA>G uc010hyq.3 + 7 1119 c.858_858GA>G c.(856-858)cagfs p.Q286fs FETUB_uc011brz.2_Frame_Shift_Del_p.Q138fs|FETUB_uc003fqn.3_Frame_Shift_Del_p.Q286fs|FETUB_uc010hyr.3_Frame_Shift_Del_p.Q249fs|FETUB_uc010hys.3_Frame_Shift_Del_p.Q138fs|FETUB_uc003fqp.4_Frame_Shift_Del_p.Q221fs NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN Homo sapiens fetuin B (FETUB), mRNA. 286 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) AATCCCAGCAGAAAAACACCC 0.478 ATP10B 23120 broad.mit.edu 37 5 160067472 160067473 + Frame_Shift_Ins INS - - A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr5:160067471_160067472C>CA uc003lym.1 - 9 1843_1844 c.996_997G>TG c.(994-999)gctgtafs p.A332fs ATP10B_uc003lyp.2_Frame_Shift_Ins_p.A332fs|ATP10B_uc011deg.1_Frame_Shift_Ins_p.A376fs|ATP10B_uc003lyo.2_Frame_Shift_Ins_p.A304fs NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 332 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCATACCTACAGCTCCAATAA 0.436 BEST3 144453 broad.mit.edu 37 12 70049362 70049363 + Frame_Shift_Ins INS - - G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr12:70049361_70049362T>TG uc001svg.3 - 9 1559_1560 c.1332_1333A>CA c.(1330-1335)cccaggfs p.P444fs BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Frame_Shift_Ins_p.P231fs|BEST3_uc010stm.2_Frame_Shift_Ins_p.P338fs NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 444 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGTGAGGCCCTGGGGGGGTTTC 0.594 KBTBD7 84078 broad.mit.edu 37 13 41766772 41766775 + Frame_Shift_Del DEL CTAG CTAG - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr13:41766771_41766774CCTAG>C uc001uxw.1 - 0 1929_1932 c.1620_1623CTAGG>G c.(1618-1623)gctaggfs p.A540fs AK056182_uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA. 540 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) TCCATTCTCCCCTAGCTGGGTTGT 0.417 COL4A1 1282 broad.mit.edu 37 13 110838821 110838822 + Frame_Shift_Ins INS - - G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef g.chr13:110838820_110838821A>AG uc001vqw.4 - 25 1930_1931 c.1808_1809T>CT c.(1807-1809)cctfs p.P603fs NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 603 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CTGGAGGCCCAGGGGGGCCGGT 0.599