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 AJAP1 55966 broad.mit.edu 37 1 4772679 4772679 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:4772679T>G uc001alm.1 + 2 1130 c.749T>G c.(748-750)GTT>GGT p.V250G AJAP1_uc001aln.2_Missense_Mutation_p.V250G NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 250 Extracellular (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCAGGTGGGGTTAGCACAACG 0.498 HTR1D 3352 broad.mit.edu 37 1 23520606 23520606 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:23520606G>A uc001bgn.2 - 1 617 c.107C>T c.(106-108)GCG>GTG p.A36V NM_000864 NP_000855 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D 36 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) GATCTTGAGCGCCTGGAGGGT 0.572 MYOM3 127294 broad.mit.edu 37 1 24387551 24387551 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:24387551C>A uc001bin.3 - 35 4156 c.3993G>T c.(3991-3993)AAG>AAT p.K1331N MYOM3_uc001bil.3_Missense_Mutation_p.K224N|MYOM3_uc001bim.3_Missense_Mutation_p.K988N NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1331 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CCGACTTACTCTTCTCGATGA 0.493 CSMD2 114784 broad.mit.edu 37 1 34112430 34112430 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:34112430T>G uc001bxn.1 - 29 4501 c.4472A>C c.(4471-4473)AAC>ACC p.N1491T CSMD2_uc001bxm.1_Missense_Mutation_p.N1531T|CSMD2_uc001bxo.1_Missense_Mutation_p.N404T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1491 CUB 9.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGCTCCAGGTTAAAGCTGGG 0.552 WDR78 79819 broad.mit.edu 37 1 67292601 67292601 + Silent SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:67292601A>T uc001dcx.2 - 15 2297 c.2241T>A c.(2239-2241)ACT>ACA p.T747T WDR78_uc009waw.2_Silent_p.T460T|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 747 WD 5. ovary(2) 2 AAACAACAGAAGTAGCTGGAT 0.403 IFI44L 10964 broad.mit.edu 37 1 79095598 79095598 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:79095598C>T uc010oro.1 + 4 900 c.721C>T c.(721-723)CGG>TGG p.R241W IFI44L_uc010orp.1_5'UTR|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 241 cytoplasm 0 CATAACCGAGCGGGTAAGTTA 0.373 FLG2 388698 broad.mit.edu 37 1 152328611 152328611 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:152328611T>G uc001ezw.3 - 3 1724 c.1651A>C c.(1651-1653)AGT>CGT p.S551R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 551 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) GATGATTGACTTGAGCCAGAA 0.488 C1orf43 25912 broad.mit.edu 37 1 154180004 154180004 + Missense_Mutation SNP C C G rs11555361 TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:154180004C>G uc001fei.2 - 7 1077 c.687G>C c.(685-687)AAG>AAC p.K229N C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Missense_Mutation_p.K126N|C1orf43_uc001feg.2_Missense_Mutation_p.K195N|C1orf43_uc001feh.2_Missense_Mutation_p.K177N|C1orf43_uc001fej.2_Missense_Mutation_p.K211N|C1orf43_uc009wos.1_3'UTR NM_001098616 NP_001092086 Q9BWL3 CA043_HUMAN hypothetical protein LOC25912 isoform 3 229 integral to membrane coenzyme binding|oxidoreductase activity 0 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) CACGTTTACTCTTCTGACTGG 0.502 OR10K2 391107 broad.mit.edu 37 1 158390476 158390476 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:158390476A>C uc010pii.1 - 1 181 c.181T>G c.(181-183)TTC>GTC p.F61V NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GCAAGGAAGAAGTACATGGGG 0.473 MNDA 4332 broad.mit.edu 37 1 158819011 158819011 + Missense_Mutation SNP C C T rs147701010 byFrequency TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:158819011C>T uc001fsz.1 + 7 1408 c.1208C>T c.(1207-1209)CCA>CTA p.P403L NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 403 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) AAGGAAGGACCAATGAATGTT 0.313 ATP1A4 480 broad.mit.edu 37 1 160147396 160147396 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:160147396G>A uc001fve.3 + 18 3157 c.2678G>A c.(2677-2679)CGC>CAC p.R893H ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.R396H|ATP1A4_uc001fvh.2_Missense_Mutation_p.R29H NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 893 Extracellular (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGGCATCCGCCTCCACTGG 0.498 CD84 8832 broad.mit.edu 37 1 160518103 160518103 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:160518103T>G uc001fwh.3 - 8 1005 c.981A>C c.(979-981)AAA>AAC p.K327N CD84_uc001fwf.3_Missense_Mutation_p.K310N|CD84_uc001fwg.3_Missense_Mutation_p.K321N|CD84_uc009wtn.2_3'UTR|CD84_uc001fwi.3_Missense_Mutation_p.K196N NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 327 Cytoplasmic (Potential). blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GTGTGCTGGCTTTCCCCATCT 0.498 QSOX1 5768 broad.mit.edu 37 1 180155295 180155295 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:180155295A>G uc001gnz.2 + 8 1070 c.995A>G c.(994-996)AAG>AGG p.K332R QSOX1_uc001gny.2_Missense_Mutation_p.K332R|QSOX1_uc001goa.2_Missense_Mutation_p.K332R NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 332 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 GCCCTGAAAAAGTTTGTGGCA 0.582 USH2A 7399 broad.mit.edu 37 1 215914804 215914804 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:215914804A>G uc001hku.1 - 60 12011 c.11624T>C c.(11623-11625)CTT>CCT p.L3875P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3875 Fibronectin type-III 24.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGTGCCTTAAGAACAGGAGA 0.398 HNSCC(13;0.011) USH2A 7399 broad.mit.edu 37 1 216373317 216373317 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:216373317T>G uc001hku.1 - 17 3850 c.3463A>C c.(3463-3465)AGT>CGT p.S1155R USH2A_uc001hkv.2_Missense_Mutation_p.S1155R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1155 Extracellular (Potential).|Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATGATATAACTTAAAGTCAAG 0.428 HNSCC(13;0.011) ITPKB 3707 broad.mit.edu 37 1 226923713 226923713 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:226923713C>A uc010pvo.1 - 2 1787 c.1447G>T c.(1447-1449)GAC>TAC p.D483Y ITPKB_uc001hqh.2_Missense_Mutation_p.D483Y NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 483 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) TTCGCAGCGTCCCAACAGGGC 0.627 OR2L2 26246 broad.mit.edu 37 1 248201728 248201728 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:248201728T>C uc001idw.2 + 1 255 c.159T>C c.(157-159)CAT>CAC p.H53H OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGGACATCCATCTCCACACAC 0.343 OR2M3 127062 broad.mit.edu 37 1 248366812 248366812 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr1:248366812C>T uc010pzg.1 + 1 443 c.443C>T c.(442-444)TCC>TTC p.S148F NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACTGCCTTTTCCTGGATCCTG 0.458 AKR1C4 1109 broad.mit.edu 37 10 5242199 5242199 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr10:5242199G>A uc001ihw.2 + 2 173 c.140G>A c.(139-141)CGC>CAC p.R47H NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 47 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) GCTGGCTTCCGCCATATTGAT 0.443 CUBN 8029 broad.mit.edu 37 10 17113494 17113494 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr10:17113494T>C uc001ioo.2 - 19 2608 c.2556A>G c.(2554-2556)CAA>CAG p.Q852Q NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 852 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAGAATGACTTGGCTTTGGG 0.423 ARMC3 219681 broad.mit.edu 37 10 23292249 23292249 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr10:23292249A>C uc001irm.3 + 13 1720 c.1637A>C c.(1636-1638)AAG>ACG p.K546T ARMC3_uc010qcv.1_Missense_Mutation_p.K546T|ARMC3_uc010qcw.1_Missense_Mutation_p.K283T NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 546 binding 0 GCTTATAATAAGTTGCTCAAT 0.348 PCDH15 65217 broad.mit.edu 37 10 55582808 55582808 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr10:55582808T>C uc001jju.1 - 33 5073 c.4678A>G c.(4678-4680)AGT>GGT p.S1560G PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S1557G|PCDH15_uc010qhw.1_Missense_Mutation_p.S1520G|PCDH15_uc010qhx.1_Missense_Mutation_p.S1491G|PCDH15_uc010qhy.1_Missense_Mutation_p.S1567G|PCDH15_uc010qhz.1_Missense_Mutation_p.S1562G|PCDH15_uc010qia.1_Missense_Mutation_p.S1540G|PCDH15_uc010qib.1_Missense_Mutation_p.S1537G NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1560 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGAGACTTACTCTTGGCTTGT 0.423 HNSCC(58;0.16) NRG3 10718 broad.mit.edu 37 10 84711261 84711261 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr10:84711261T>G uc001kco.2 + 5 1118 c.1091T>G c.(1090-1092)ATT>AGT p.I364S NRG3_uc010qlz.1_Missense_Mutation_p.I363S|NRG3_uc001kcp.2_Missense_Mutation_p.I143S|NRG3_uc001kcq.2_Missense_Mutation_p.I14S|NRG3_uc001kcr.2_Missense_Mutation_p.I14S NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 364 Helical; Note=Internal signal sequence; (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GTGCTGTCAATTTCATGTATC 0.383 MKI67 4288 broad.mit.edu 37 10 129900854 129900854 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr10:129900854G>A uc001lke.2 - 13 9445 c.9250C>T c.(9250-9252)CCT>TCT p.P3084S MKI67_uc001lkf.2_Missense_Mutation_p.P2724S|MKI67_uc009yav.1_Missense_Mutation_p.P2659S|MKI67_uc009yaw.1_Missense_Mutation_p.P2234S NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 3084 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTATTTTCAGGGACCGAGTCT 0.388 OR51T1 401665 broad.mit.edu 37 11 4904025 4904025 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:4904025A>G uc010qyp.1 + 1 977 c.977A>G c.(976-978)AAG>AGG p.K326R NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGAAGACCAAGACAATCCGC 0.483 OR51B5 282763 broad.mit.edu 37 11 5364505 5364505 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:5364505A>G uc001map.1 - 1 250 c.250T>C c.(250-252)TGG>CGG p.W84R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.W84R NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATCCAGCCAGAGGACTCCC 0.557 CNGA4 1262 broad.mit.edu 37 11 6265440 6265440 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:6265440A>C uc001mco.2 + 6 1636 c.1529A>C c.(1528-1530)AAG>ACG p.K510T CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 510 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTACAGACCAAGTTTGCTCGC 0.587 NAV2 89797 broad.mit.edu 37 11 20077343 20077343 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:20077343C>T uc010rdm.1 + 20 5101 c.4740C>T c.(4738-4740)AGC>AGT p.S1580S NAV2_uc001mpp.2_Silent_p.S1493S|NAV2_uc001mpr.3_Silent_p.S1557S|NAV2_uc001mpt.2_Silent_p.S606S|NAV2_uc009yhx.2_Silent_p.S621S|NAV2_uc009yhy.1_Silent_p.S519S|NAV2_uc009yhz.2_Silent_p.S202S|NAV2_uc001mpu.2_5'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1580 Ser-rich. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CCCAGATGAGCTTGTCCAACC 0.498 GAS2 2620 broad.mit.edu 37 11 22833442 22833442 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:22833442C>T uc009yie.2 + 8 1128 c.822C>T c.(820-822)ATC>ATT p.I274I GAS2_uc001mqm.2_Silent_p.I274I|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Silent_p.I274I NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 274 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 TGCTGCAGATCTCCCGTGTGG 0.483 WT1 7490 broad.mit.edu 37 11 32414236 32414236 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:32414236T>G uc001mtn.1 - 8 1511 c.1315A>C c.(1315-1317)AAA>CAA p.K439Q WT1_uc001mtl.1_Missense_Mutation_p.K227Q|WT1_uc001mtm.1_Missense_Mutation_p.K210Q|WT1_uc001mto.1_Missense_Mutation_p.K439Q|WT1_uc001mtp.1_Missense_Mutation_p.K422Q|WT1_uc001mtq.1_Missense_Mutation_p.K422Q|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 371 C2H2-type 2.|Important for interaction with target DNA. adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TGGTGTCTTTTGAGCTGGTCT 0.428 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation OR5D14 219436 broad.mit.edu 37 11 55563186 55563186 + Missense_Mutation SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:55563186A>T uc010rim.1 + 1 155 c.155A>T c.(154-156)AAG>ATG p.K52M NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) ATAATAATCAAGATTAACCCC 0.388 OR5D14 219436 broad.mit.edu 37 11 55563610 55563610 + Missense_Mutation SNP T T A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:55563610T>A uc010rim.1 + 1 579 c.579T>A c.(577-579)GAT>GAA p.D193E NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) CTGGCTCTGATATACTCATCC 0.428 OR5AP2 338675 broad.mit.edu 37 11 56409864 56409864 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:56409864A>C uc001njb.1 - 1 52 c.52T>G c.(52-54)TTT>GTT p.F18V NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 AAGAGGAGAAATTCTGTTACT 0.398 GPR137 56834 broad.mit.edu 37 11 64056123 64056123 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:64056123T>G uc001nzg.1 + 7 1269 c.961T>G c.(961-963)TTC>GTC p.F321V GPR137_uc010rni.1_Missense_Mutation_p.F379V|GPR137_uc001nzf.2_Missense_Mutation_p.F271V|GPR137_uc001nzi.2_Missense_Mutation_p.F321V|GPR137_uc010rnj.1_Intron|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 321 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 TCGGTCCTACTTCTTTGACCG 0.617 SLC22A11 55867 broad.mit.edu 37 11 64329765 64329765 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:64329765A>G uc001oai.2 + 4 1053 c.679A>G c.(679-681)AGG>GGG p.R227G SLC22A11_uc001oah.1_Missense_Mutation_p.E192G|SLC22A11_uc001oaj.2_Missense_Mutation_p.R227G|SLC22A11_uc009ypq.2_Missense_Mutation_p.R227G|SLC22A11_uc001oak.1_Missense_Mutation_p.R56G NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 227 Cytoplasmic (Potential). urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Probenecid(DB01032) GACCAGCAGGAGGGCGGTCAC 0.687 RASGRP2 10235 broad.mit.edu 37 11 64496457 64496457 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:64496457C>T uc009ypu.2 - 15 1876 c.1649G>A c.(1648-1650)CGC>CAC p.R550H RASGRP2_uc001oat.2_Missense_Mutation_p.R452H|RASGRP2_uc001oau.2_Missense_Mutation_p.R405H|RASGRP2_uc009ypv.2_Missense_Mutation_p.R550H|RASGRP2_uc009ypw.2_Missense_Mutation_p.R550H NM_001098671 NP_001092141 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 550 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity 0 CTGGGCCCTGCGCCGACACTC 0.637 NAALAD2 10003 broad.mit.edu 37 11 89880537 89880537 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:89880537A>C uc001pdf.3 + 3 343 c.234A>C c.(232-234)CAA>CAC p.Q78H NAALAD2_uc009yvx.2_Missense_Mutation_p.Q78H|NAALAD2_uc009yvy.2_Missense_Mutation_p.Q78H|NAALAD2_uc001pdd.2_Missense_Mutation_p.Q78H|NAALAD2_uc001pde.2_Missense_Mutation_p.Q78H NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 78 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GAACAGAACAAAATTTCTTGC 0.378 DYNC2H1 79659 broad.mit.edu 37 11 103124033 103124033 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:103124033A>C uc001pho.2 + 66 10206 c.10062A>C c.(10060-10062)CAA>CAC p.Q3354H DYNC2H1_uc001phn.1_Missense_Mutation_p.Q3361H|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3354 AAA 5 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ATGTGGTACAAATAGGTGACA 0.318 TTC12 54970 broad.mit.edu 37 11 113220875 113220875 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:113220875C>T uc001pnu.2 + 14 1340 c.1235C>T c.(1234-1236)GCT>GTT p.A412V TTC12_uc001pnv.2_Missense_Mutation_p.A418V|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.A262V NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 412 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) ACAGACTTGGCTCTGGAAGAA 0.368 ZBTB16 7704 broad.mit.edu 37 11 114118040 114118040 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:114118040A>C uc001pop.2 + 6 2009 c.1745A>C c.(1744-1746)AAG>ACG p.K582T ZBTB16_uc001poq.2_Missense_Mutation_p.K582T NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 582 C2H2-type 7. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TGTGGCAAGAAGTTCAGCCTC 0.597 BCL9L 283149 broad.mit.edu 37 11 118771672 118771672 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:118771672G>A uc001pug.2 - 6 3745 c.2780C>T c.(2779-2781)CCG>CTG p.P927L BCL9L_uc009zal.2_Missense_Mutation_p.P922L NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 927 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CCCCATGCCCGGTGAGCCCAT 0.627 CD163L1 283316 broad.mit.edu 37 12 7531837 7531837 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:7531837A>C uc001qsy.2 - 9 2134 c.2108T>G c.(2107-2109)GTT>GGT p.V703G CD163L1_uc010sge.1_Missense_Mutation_p.V713G NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 703 SRCR 7.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ATTCACCTCAACTTTTCCAGC 0.478 LST-3TM12 338821 broad.mit.edu 37 12 21200120 21200120 + Silent SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:21200120T>G uc010sin.1 + 7 963 c.963T>G c.(961-963)GGT>GGG p.G321G SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.G368G NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 321 membrane transporter activity 0 AACAGTATGGTTGGTCTGCAT 0.328 ALG10 84920 broad.mit.edu 37 12 34177047 34177047 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:34177047T>C uc001rlm.2 + 2 641 c.322T>C c.(322-324)TTC>CTC p.F108L NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 108 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TGTTGGCAACTTCTATTTACT 0.368 ADAMTS20 80070 broad.mit.edu 37 12 43777757 43777757 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:43777757T>C uc010skx.1 - 30 4476 c.4476A>G c.(4474-4476)GGA>GGG p.G1492G NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1492 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCTGCTGAACTCCAGAGCCAC 0.433 KRT73 319101 broad.mit.edu 37 12 53002152 53002152 + Missense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:53002152G>T uc001sas.2 - 9 1486 c.1451C>A c.(1450-1452)CCC>CAC p.P484H NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 484 Tail. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) GACAGAGCTGGGCCAGTAGCC 0.652 PDE1B 5153 broad.mit.edu 37 12 54960855 54960855 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:54960855T>C uc001sgd.1 + 3 377 c.211T>C c.(211-213)TAC>CAC p.Y71H PDE1B_uc010soz.1_5'UTR|PDE1B_uc010spa.1_Missense_Mutation_p.Y30H|PDE1B_uc001sgf.2_5'UTR|PDE1B_uc001sge.2_Missense_Mutation_p.Y51H|PDE1B_uc009znq.2_5'UTR NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 71 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GGAAGCCGTCTACATAGATGa 0.264 LRRIQ1 84125 broad.mit.edu 37 12 85449826 85449826 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:85449826A>C uc001tac.2 + 8 1366 c.1255A>C c.(1255-1257)AAG>CAG p.K419Q LRRIQ1_uc001tab.1_Missense_Mutation_p.K419Q|LRRIQ1_uc001taa.1_Missense_Mutation_p.K394Q NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 419 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TTCAAATGATAAGGGTGATAT 0.318 C12orf50 160419 broad.mit.edu 37 12 88388493 88388493 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:88388493A>C uc001tam.1 - 7 677 c.509T>G c.(508-510)CTT>CGT p.L170R C12orf50_uc001tan.2_Missense_Mutation_p.L224R NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 170 skin(2)|ovary(1) 3 ATATTGGCTAAGTTTTGTCGG 0.323 TAOK3 51347 broad.mit.edu 37 12 118619209 118619209 + Silent SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr12:118619209C>A uc001twx.2 - 15 1828 c.1533G>T c.(1531-1533)CTG>CTT p.L511L TAOK3_uc001twv.2_Silent_p.L51L|TAOK3_uc001tww.2_Silent_p.L341L|TAOK3_uc001twy.3_Silent_p.L511L NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 511 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTTCTTGGCCAGCTTCTCCA 0.552 OREG0022177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NALCN 259232 broad.mit.edu 37 13 101717888 101717888 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr13:101717888T>G uc001vox.1 - 40 4661 c.4472A>C c.(4471-4473)AAG>ACG p.K1491T NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1491 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAGCAGGAACTTGACGCGGAA 0.527 NALCN 259232 broad.mit.edu 37 13 102051417 102051417 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr13:102051417C>T uc001vox.1 - 2 250 c.61G>A c.(61-63)GAT>AAT p.D21N NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.D21N|NALCN_uc001vpa.2_Missense_Mutation_p.D21N NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 21 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAGACTCATCAGGACCAAAG 0.458 ACIN1 22985 broad.mit.edu 37 14 23530626 23530626 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr14:23530626C>A uc001wit.3 - 17 3807 c.3479G>T c.(3478-3480)CGA>CTA p.R1160L ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R402L|ACIN1_uc001wiq.3_Missense_Mutation_p.R402L|ACIN1_uc001wir.3_Missense_Mutation_p.R433L|ACIN1_uc001wis.3_Missense_Mutation_p.R841L|ACIN1_uc010akg.2_Missense_Mutation_p.R1147L NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1160 Arg/Asp/Glu/Lys-rich. R -> Q (in a colorectal cancer sample; somatic mutation). apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding p.R1160Q(1) ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ACGCTCTGATCGAGTCCGCTC 0.642 AKAP6 9472 broad.mit.edu 37 14 33292966 33292966 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr14:33292966T>C uc001wrq.2 + 13 6117 c.5947T>C c.(5947-5949)TCT>CCT p.S1983P NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1983 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CACTGAGAAGTCTTTCTCAGA 0.413 LRFN5 145581 broad.mit.edu 37 14 42356853 42356853 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr14:42356853T>C uc001wvm.2 + 3 2223 c.1025T>C c.(1024-1026)CTT>CCT p.L342P LRFN5_uc010ana.2_Missense_Mutation_p.L342P NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 342 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AACGGAACACTTGACATTCTT 0.423 HNSCC(30;0.082) SIX6 4990 broad.mit.edu 37 14 60976152 60976152 + Missense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr14:60976152G>T uc001xfa.3 + 1 215 c.36G>T c.(34-36)CAG>CAT p.Q12H NM_007374 NP_031400 O95475 SIX6_HUMAN SIX homeobox 6 12 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.088) TCAGCCCCCAGCAAGTGGCCG 0.697 ACTN1 87 broad.mit.edu 37 14 69349291 69349291 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr14:69349291G>A uc001xkl.2 - 16 2147 c.1837C>T c.(1837-1839)CGG>TGG p.R613W ACTN1_uc001xkk.2_Missense_Mutation_p.R209W|ACTN1_uc010ttb.1_Missense_Mutation_p.R548W|ACTN1_uc001xkm.2_Missense_Mutation_p.R613W|ACTN1_uc001xkn.2_Missense_Mutation_p.R613W|ACTN1_uc010ttc.1_Missense_Mutation_p.R198W NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 613 Interaction with DDN.|Spectrin 3. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TGGTCCCTCCGAGGCACCAGC 0.597 HHIPL1 84439 broad.mit.edu 37 14 100123443 100123443 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr14:100123443G>A uc010avs.2 + 3 1074 c.1009G>A c.(1009-1011)GGA>AGA p.G337R HHIPL1_uc001ygl.1_Missense_Mutation_p.G337R NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 337 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) CGGGATGGCCGGAGACCCCTT 0.527 SLC24A5 283652 broad.mit.edu 37 15 48414059 48414059 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr15:48414059A>G uc001zwe.2 + 2 200 c.127A>G c.(127-129)AGC>GGC p.S43G SLC24A5_uc001zwd.2_Missense_Mutation_p.S43G|SLC24A5_uc010bel.2_Intron NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 43 Extracellular (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) AACAGGAAATAGCACCCAATG 0.428 SECISBP2L 9728 broad.mit.edu 37 15 49303966 49303966 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr15:49303966A>C uc001zxe.1 - 13 1960 c.1826T>G c.(1825-1827)TTT>TGT p.F609C SECISBP2L_uc001zxd.1_Missense_Mutation_p.F564C|SECISBP2L_uc010bep.1_Missense_Mutation_p.F371C NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 609 breast(1)|skin(1) 2 GTCATCAATAAAATCTAAGTG 0.403 PDE8A 5151 broad.mit.edu 37 15 85619125 85619125 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr15:85619125C>T uc002blh.2 + 4 656 c.467C>T c.(466-468)ACA>ATA p.T156I PDE8A_uc002bli.2_Missense_Mutation_p.T156I|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 156 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TCAGAAAACACAGTTATTGTT 0.279 NPRL3 8131 broad.mit.edu 37 16 160567 160567 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr16:160567C>T uc002cfr.2 - 7 684 c.585G>A c.(583-585)CTG>CTA p.L195L NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.L16L|NPRL3_uc010uub.1_Silent_p.L170L|NPRL3_uc010uuc.1_Silent_p.L117L|NPRL3_uc002cfs.1_Silent_p.L170L NM_001077350 NP_001070818 Q12980 NPRL3_HUMAN conserved gene telomeric to alpha globin cluster 195 protein binding ovary(1) 1 TGCACTTGGGCAGGATGTGAT 0.423 MYH11 4629 broad.mit.edu 37 16 15841950 15841950 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr16:15841950G>A uc002ddy.2 - 17 2241 c.2134C>T c.(2134-2136)CGG>TGG p.R712W MYH11_uc002ddv.2_Missense_Mutation_p.R719W|MYH11_uc002ddw.2_Missense_Mutation_p.R712W|MYH11_uc002ddx.2_Missense_Mutation_p.R719W|MYH11_uc010bvg.2_Missense_Mutation_p.R544W NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 712 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 AAGCCCTGCCGGCAGATGCGA 0.637 T CBFB AML ACSM2A 123876 broad.mit.edu 37 16 20481029 20481029 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr16:20481029A>G uc010bwe.2 + 5 823 c.584A>G c.(583-585)AAG>AGG p.K195R ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.K116R|ACSM2A_uc002dhf.3_Missense_Mutation_p.K195R|ACSM2A_uc002dhg.3_Missense_Mutation_p.K195R|ACSM2A_uc010vay.1_Missense_Mutation_p.K116R NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 195 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CTGAACTTCAAGAAACTACTA 0.269 TNRC6A 27327 broad.mit.edu 37 16 24801035 24801035 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr16:24801035C>T uc002dmm.2 + 6 1186 c.1072C>T c.(1072-1074)CCA>TCA p.P358S TNRC6A_uc010bxs.2_Missense_Mutation_p.P105S|TNRC6A_uc010vcc.1_Missense_Mutation_p.P105S|TNRC6A_uc002dmn.2_Missense_Mutation_p.P105S|TNRC6A_uc002dmo.2_Missense_Mutation_p.P105S NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 358 Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) AGGGTTAAATCCAAGCACTTT 0.453 C16orf92 146378 broad.mit.edu 37 16 30035099 30035099 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr16:30035099G>A uc002dvs.2 + 2 203 c.182G>A c.(181-183)CGC>CAC p.R61H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.R39H NM_001109660 NP_001103130 Q96LL3 CP092_HUMAN hypothetical protein LOC146378 isoform 2 61 integral to membrane 0 GAGTCTCCGCGCTTCTTAGAC 0.567 SALL1 6299 broad.mit.edu 37 16 51174365 51174365 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr16:51174365A>G uc010vgs.1 - 2 1799 c.1768T>C c.(1768-1770)TCA>CCA p.S590P SALL1_uc010vgr.1_Missense_Mutation_p.S493P|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 590 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTTTTGACTGAGCCTGGGGGG 0.627 ADAMTS18 170692 broad.mit.edu 37 16 77325275 77325275 + Missense_Mutation SNP C C T rs150975249 byFrequency TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr16:77325275C>T uc002ffc.3 - 21 3709 c.3290G>A c.(3289-3291)CGT>CAT p.R1097H NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1097 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CTTAATATTACGGCATCTTCG 0.502 ANKFY1 51479 broad.mit.edu 37 17 4086708 4086708 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:4086708G>A uc002fxq.1 - 14 1975 c.1937C>T c.(1936-1938)GCA>GTA p.A646V ANKFY1_uc002fxn.2_Missense_Mutation_p.A688V|ANKFY1_uc002fxo.2_Missense_Mutation_p.A646V|ANKFY1_uc002fxp.2_Missense_Mutation_p.A645V|ANKFY1_uc010ckp.2_Missense_Mutation_p.A587V NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 646 ANK 9. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 ATTTATATCTGCCTGGTGCTC 0.517 SOX15 6665 broad.mit.edu 37 17 7491725 7491725 + Missense_Mutation SNP C C G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:7491725C>G uc002ghy.1 - 3 821 c.673G>C c.(673-675)GGT>CGT p.G225R MPDU1_uc010vuc.1_Intron|SOX15_uc002ghz.1_Missense_Mutation_p.G225R NM_006942 NP_008873 O60248 SOX15_HUMAN SRY-box 15 225 GA -> VP (in Ref. 7; BAA78784). chromatin organization|male gonad development nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 ATGGGGGCACCAGCAAGGGGA 0.617 PIK3R5 23533 broad.mit.edu 37 17 8791715 8791715 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:8791715C>T uc002glt.2 - 10 1456 c.1389G>A c.(1387-1389)CTG>CTA p.L463L PIK3R5_uc010vuz.1_Silent_p.L463L|PIK3R5_uc002glu.3_Silent_p.L77L|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Silent_p.L77L NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 463 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CTGGTTCGTCCAGGGGGCTGC 0.711 NTN1 9423 broad.mit.edu 37 17 8926512 8926512 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:8926512C>T uc002glw.3 + 2 929 c.822C>T c.(820-822)TAC>TAT p.Y274Y NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 274 Laminin N-terminal. apoptosis|axon guidance protein binding 0 CGTACTTCTACGCGGTGTCCG 0.706 DNAH9 1770 broad.mit.edu 37 17 11696975 11696975 + Silent SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:11696975T>G uc002gne.2 + 42 8285 c.8217T>G c.(8215-8217)ACT>ACG p.T2739T DNAH9_uc010coo.2_Silent_p.T2033T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2739 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCAAGAAAACTTTTGATGTGA 0.313 NCOR1 9611 broad.mit.edu 37 17 16041498 16041498 + Missense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:16041498G>T uc002gpo.2 - 13 1621 c.1381C>A c.(1381-1383)CTA>ATA p.L461I NCOR1_uc002gpn.2_Missense_Mutation_p.L461I|NCOR1_uc002gpp.1_Missense_Mutation_p.L352I|NCOR1_uc002gpr.2_Missense_Mutation_p.L352I|NCOR1_uc002gps.1_Missense_Mutation_p.L470I|NCOR1_uc010coz.1_Missense_Mutation_p.L277I|NCOR1_uc010cpb.1_Missense_Mutation_p.L470I|NCOR1_uc010cpa.1_Missense_Mutation_p.L461I NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 461 SANT 1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GATGCAATTAGTCCAAAGTTT 0.353 MPRIP 23164 broad.mit.edu 37 17 17077319 17077319 + Missense_Mutation SNP C C G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:17077319C>G uc002gqu.1 + 18 2575 c.2519C>G c.(2518-2520)GCG>GGG p.A840G MPRIP_uc002gqv.1_Missense_Mutation_p.A840G|MPRIP_uc002gqw.1_Missense_Mutation_p.A595G|MPRIP_uc002gqx.1_Missense_Mutation_p.A1069G|MPRIP_uc002gqy.1_Missense_Mutation_p.A1069G|MPRIP_uc010cpl.1_Missense_Mutation_p.A66G|MPRIP_uc010cpm.1_Missense_Mutation_p.A66G NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 840 Interaction with PPP1R12A.|Potential. cytoplasm|cytoskeleton actin binding 0 CTGGCCCAGGCGCTGGAGGCC 0.662 ACOX1 51 broad.mit.edu 37 17 73945808 73945808 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:73945808C>T uc002jqf.2 - 10 1759 c.1469G>A c.(1468-1470)CGT>CAT p.R490H ACOX1_uc010wsq.1_Missense_Mutation_p.R452H|ACOX1_uc002jqe.2_Missense_Mutation_p.R490H|ACOX1_uc010wsr.1_Missense_Mutation_p.R422H NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 490 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 CCTGGCTGCACGGAGTTTATA 0.557 FAM59A 64762 broad.mit.edu 37 18 29867223 29867223 + Missense_Mutation SNP G G T rs148857293 TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr18:29867223G>T uc002kxl.2 - 4 1393 c.1337C>A c.(1336-1338)CCG>CAG p.P446Q FAM59A_uc002kxk.1_Missense_Mutation_p.P446Q NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 446 ovary(1)|skin(1) 2 TGACTTTCCCGGGATGCCTGC 0.542 LIPG 9388 broad.mit.edu 37 18 47101837 47101837 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr18:47101837C>T uc002ldv.2 + 5 922 c.670C>T c.(670-672)CGT>TGT p.R224C LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.1_Intron NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 224 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CACCTACACGCGTTCCTTCGG 0.557 DDX49 54555 broad.mit.edu 37 19 19032555 19032555 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr19:19032555T>C uc002nkq.1 + 3 380 c.323T>C c.(322-324)ATG>ACG p.M108T COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.M1T|DDX49_uc002nkt.1_5'Flank NM_019070 NP_061943 Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 108 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Epithelial(12;0.0289) GTCGGTGGCATGGGTACGGGA 0.642 ZNF98 148198 broad.mit.edu 37 19 22574432 22574432 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr19:22574432T>C uc002nqt.2 - 4 1727 c.1605A>G c.(1603-1605)AGA>AGG p.R535R NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 535 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TCATCTTATGTCTGTTAAGAA 0.363 ZNF98 148198 broad.mit.edu 37 19 22574473 22574473 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr19:22574473C>T uc002nqt.2 - 4 1686 c.1564G>A c.(1564-1566)GAA>AAA p.E522K NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 522 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TTGCCGCATTCTTCACACTTG 0.393 FCGBP 8857 broad.mit.edu 37 19 40361014 40361014 + Missense_Mutation SNP G G C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr19:40361014G>C uc002omp.3 - 33 15402 c.15394C>G c.(15394-15396)CGC>GGC p.R5132G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5132 Cys-rich.|TIL 12. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGCAGGTGCGAGTGCAGATG 0.637 FCGBP 8857 broad.mit.edu 37 19 40382289 40382289 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr19:40382289A>C uc002omp.3 - 22 10605 c.10597T>G c.(10597-10599)TTC>GTC p.F3533V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 3533 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCACGACAGAAGTCCGGCCGC 0.652 NLRP9 338321 broad.mit.edu 37 19 56243743 56243743 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr19:56243743T>C uc002qly.2 - 2 1482 c.1454A>G c.(1453-1455)CAA>CGA p.Q485R NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 485 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CAAGAGGGTTTGAGGCTGAAC 0.473 SUPT7L 9913 broad.mit.edu 37 2 27878399 27878399 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:27878399G>A uc002rlh.1 - 5 1158 c.815C>T c.(814-816)CCT>CTT p.P272L SUPT7L_uc002rli.1_Missense_Mutation_p.P272L|SUPT7L_uc010ymf.1_Missense_Mutation_p.P137L|SUPT7L_uc002rlj.1_Missense_Mutation_p.P270L|SUPT7L_uc010ezh.1_Missense_Mutation_p.P270L NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 272 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) GATCTTCACAGGTTTAGCGTC 0.478 TACR1 6869 broad.mit.edu 37 2 75276845 75276845 + Missense_Mutation SNP C C T rs148591370 TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:75276845C>T uc002sng.2 - 5 1523 c.938G>A c.(937-939)CGT>CAT p.R313H NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 313 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GAAGCCCAGACGGAACCTGGA 0.597 LONRF2 164832 broad.mit.edu 37 2 100906748 100906748 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:100906748G>A uc002tal.3 - 10 2532 c.1892C>T c.(1891-1893)GCG>GTG p.A631V LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 631 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 TTCAATGTCCGCTGTGTTATA 0.463 CACNB4 785 broad.mit.edu 37 2 152727081 152727081 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:152727081C>T uc002tya.2 - 8 731 c.663G>A c.(661-663)CCG>CCA p.P221P CACNB4_uc002txy.2_Silent_p.P187P|CACNB4_uc002txz.2_Silent_p.P203P|CACNB4_uc010fnz.2_Silent_p.P221P|CACNB4_uc002tyb.2_Silent_p.P187P NM_000726 NP_000717 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 221 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) CTAACACCACCGGACGCATTG 0.498 CSRNP3 80034 broad.mit.edu 37 2 166536175 166536175 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:166536175C>T uc002udf.2 + 7 2046 c.1670C>T c.(1669-1671)CCT>CTT p.P557L CSRNP3_uc002udg.2_Missense_Mutation_p.P557L NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 557 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TCAGAGCATCCTGCTGAAAAT 0.433 SCN7A 6332 broad.mit.edu 37 2 167334146 167334146 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:167334146T>G uc002udu.1 - 2 188 c.61A>C c.(61-63)ATA>CTA p.I21L SCN7A_uc002udv.1_Missense_Mutation_p.I21L NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 21 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TGCTGTTTTATAAGTTCAAAA 0.348 LRP2 4036 broad.mit.edu 37 2 170034354 170034354 + Missense_Mutation SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:170034354G>T uc002ues.2 - 53 10565 c.10352C>A c.(10351-10353)CCA>CAA p.P3451Q NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3451 LDL-receptor class B 34.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GATGTCAAATGGTCTGTGTGT 0.428 TTN 7273 broad.mit.edu 37 2 179583903 179583903 + Silent SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:179583903G>A uc010zfg.1 - 80 20706 c.20482C>T c.(20482-20484)CTG>TTG p.L6828L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L3489L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7755 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCACAGTCAGGACTGCTGAG 0.507 ZSWIM2 151112 broad.mit.edu 37 2 187693166 187693166 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr2:187693166A>C uc002upu.1 - 9 1487 c.1447T>G c.(1447-1449)TTA>GTA p.L483V NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 483 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TCATAGGTTAATTTTTTTGAA 0.318 LIPI 149998 broad.mit.edu 37 21 15538686 15538686 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr21:15538686A>G uc002yjm.2 - 5 803 c.793T>C c.(793-795)TCA>CCA p.S265P LIPI_uc010gkw.1_Intron NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 244 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AGTATACCTGAGAAAATTGAT 0.348 BRWD1 54014 broad.mit.edu 37 21 40608669 40608669 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr21:40608669C>T uc002yxk.1 - 23 2757 c.2618G>A c.(2617-2619)GGC>GAC p.G873D BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.G873D|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.G326D|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.G549D NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 873 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CAAATTGATGCCCGCATCAGC 0.403 SATB1 6304 broad.mit.edu 37 3 18457585 18457585 + Silent SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:18457585A>C uc003cbh.2 - 4 2164 c.429T>G c.(427-429)TCT>TCG p.S143S SATB1_uc003cbi.2_Silent_p.S143S|SATB1_uc003cbj.2_Silent_p.S143S NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 143 Protein interaction.|PDZ-like dimerization domain. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 CTGTCACGTAAGACAGTGGAA 0.388 DNAH1 25981 broad.mit.edu 37 3 52428625 52428625 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:52428625G>A uc011bef.1 + 67 11032 c.10771G>A c.(10771-10773)GTG>ATG p.V3591M DNAH1_uc003ddv.2_Missense_Mutation_p.V449M NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3656 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TTCCGACTTCGTGAAGCACCT 0.582 ADAMTS9 56999 broad.mit.edu 37 3 64635379 64635379 + Silent SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:64635379G>A uc003dmg.2 - 10 1571 c.1539C>T c.(1537-1539)ATC>ATT p.I513I ADAMTS9_uc011bfo.1_Silent_p.I485I|ADAMTS9_uc003dmh.1_Silent_p.I342I|ADAMTS9_uc003dmk.1_Silent_p.I513I NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 513 Disintegrin. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CGTTGTAAAGGATGCCTGGCA 0.468 ZBTB20 26137 broad.mit.edu 37 3 114069713 114069713 + Silent SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:114069713A>C uc003ebi.2 - 4 1392 c.1212T>G c.(1210-1212)GCT>GCG p.A404A ZBTB20_uc003ebj.2_Silent_p.A331A|ZBTB20_uc010hqp.2_Silent_p.A331A|ZBTB20_uc003ebk.2_Silent_p.A331A|ZBTB20_uc003ebl.2_Silent_p.A331A|ZBTB20_uc003ebm.2_Silent_p.A331A|ZBTB20_uc003ebn.2_Silent_p.A331A|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GGGTGGGTTCAGCCTGGCTGT 0.637 KY 339855 broad.mit.edu 37 3 134322598 134322598 + Silent SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:134322598A>G uc010hty.2 - 11 1871 c.1809T>C c.(1807-1809)GGT>GGC p.G603G KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.G582G NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase Error:Variant_position_missing_in_Q8NBH2_after_alignment cytoskeleton|Z disc peptidase activity ovary(2) 2 CTTTGGCAATACCATGCAGCT 0.572 ZIC1 7545 broad.mit.edu 37 3 147128310 147128310 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:147128310C>T uc003ewe.2 + 1 1130 c.411C>T c.(409-411)GCC>GCT p.A137A NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 137 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 ACACGGACGCCGCGGGCCACC 0.721 FNDC3B 64778 broad.mit.edu 37 3 171965423 171965423 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:171965423A>G uc003fhy.2 + 5 537 c.365A>G c.(364-366)CAT>CGT p.H122R FNDC3B_uc003fhz.3_Missense_Mutation_p.H122R|FNDC3B_uc003fia.2_Missense_Mutation_p.H53R NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 122 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CCAACCCATCATCTCCCTCCC 0.527 KCNMB2 10242 broad.mit.edu 37 3 178560470 178560470 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:178560470T>G uc003fjd.2 + 5 796 c.453T>G c.(451-453)AAT>AAG p.N151K uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151K|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151K|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN calcium-activated potassium channel beta 2 151 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(1) 1 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) GTGGAAAAAATTTTGAAGAAT 0.403 C3orf59 151963 broad.mit.edu 37 3 192516834 192516834 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:192516834A>C uc011bsp.1 - 2 1138 c.817T>G c.(817-819)TTG>GTG p.L273V NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 273 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) GCAGGCACCAAGTAAAACCCA 0.522 MUC4 4585 broad.mit.edu 37 3 195474111 195474111 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:195474111C>T uc011bto.1 - 26 16251 c.15791G>A c.(15790-15792)CGC>CAC p.R5264H MUC4_uc010hzq.2_Missense_Mutation_p.R249H|MUC4_uc003fuz.2_Missense_Mutation_p.R990H|MUC4_uc003fva.2_Missense_Mutation_p.R872H|MUC4_uc003fvb.2_Missense_Mutation_p.R908H|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R908H|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R872H|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R956H|MUC4_uc011bti.1_Missense_Mutation_p.R956H|MUC4_uc011btj.1_Missense_Mutation_p.R1133H|MUC4_uc011btk.1_Missense_Mutation_p.R872H|MUC4_uc011btl.1_Missense_Mutation_p.R901H|MUC4_uc011btm.1_Missense_Mutation_p.R1081H|MUC4_uc011btn.1_Missense_Mutation_p.R872H|MUC4_uc003fvo.2_Missense_Mutation_p.R1156H|MUC4_uc003fvp.2_Missense_Mutation_p.R1105H NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 2149 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCCCAGAAGCGCAGGACCAC 0.612 SLIT2 9353 broad.mit.edu 37 4 20521042 20521042 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr4:20521042A>G uc003gpr.1 + 12 1300 c.1096A>G c.(1096-1098)AGT>GGT p.S366G SLIT2_uc003gps.1_Missense_Mutation_p.S366G NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 366 LRR 9. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ACTCCCCAAAAGTTTATTTGA 0.299 PPARGC1A 10891 broad.mit.edu 37 4 23833214 23833214 + Missense_Mutation SNP G G C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr4:23833214G>C uc003gqs.2 - 3 515 c.395C>G c.(394-396)ACC>AGC p.T132S PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 132 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) GGGTGGAGGGGTGCCGTCAGG 0.557 TMPRSS11A 339967 broad.mit.edu 37 4 68780403 68780403 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr4:68780403C>T uc003hdr.1 - 9 1128 c.1007G>A c.(1006-1008)AGT>AAT p.S336N LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.S333N NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A isoform 1 336 Peptidase S1.|Extracellular (Potential). cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity skin(1) 1 GACATCATCACTTATGATTTT 0.398 THAP6 152815 broad.mit.edu 37 4 76442037 76442037 + Missense_Mutation SNP G G C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr4:76442037G>C uc003him.2 + 3 233 c.136G>C c.(136-138)GAT>CAT p.D46H RCHY1_uc003hij.2_5'Flank|RCHY1_uc003hik.2_5'Flank|RCHY1_uc003hil.2_5'Flank|RCHY1_uc010iip.2_5'Flank|RCHY1_uc010iiq.2_5'Flank|RCHY1_uc010iir.2_5'Flank|THAP6_uc010iis.1_Missense_Mutation_p.D5H|THAP6_uc003hin.2_Missense_Mutation_p.D46H|THAP6_uc011cbm.1_Missense_Mutation_p.D46H|THAP6_uc010iiu.1_RNA|THAP6_uc003hio.1_RNA|THAP6_uc010iiv.2_Missense_Mutation_p.D46H NM_144721 NP_653322 Q8TBB0 THAP6_HUMAN THAP domain containing 6 46 THAP-type. microtubule cytoskeleton DNA binding|metal ion binding 0 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GAAAAGACTTGATGTGAATGC 0.333 THAP9 79725 broad.mit.edu 37 4 83822021 83822021 + Silent SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr4:83822021C>A uc003hnt.2 + 1 185 c.66C>A c.(64-66)GGC>GGA p.G22G SEC31A_uc003hnm.2_5'Flank|uc003hnp.2_5'Flank|uc003hnq.2_5'Flank|uc003hnr.2_5'Flank|THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_RNA NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 22 THAP-type. DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) GGGAGCGCGGCCTCTCCTTCC 0.493 UNC5C 8633 broad.mit.edu 37 4 96140365 96140365 + Missense_Mutation SNP T T C rs147587723 byFrequency TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr4:96140365T>C uc003htp.1 - 9 1554 c.1400A>G c.(1399-1401)AAC>AGC p.N467S UNC5C_uc010ilc.1_Missense_Mutation_p.N486S|UNC5C_uc003htq.2_Missense_Mutation_p.N486S NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 467 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AATTGGAGAGTTGGTCATTGG 0.522 FAT4 79633 broad.mit.edu 37 4 126336146 126336146 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr4:126336146A>G uc003ifj.3 + 5 6028 c.6028A>G c.(6028-6030)AGT>GGT p.S2010G FAT4_uc011cgp.1_Missense_Mutation_p.S308G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2010 Cadherin 19.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGATCGGGAAAGTCAGTCCTT 0.438 ADCY2 108 broad.mit.edu 37 5 7698445 7698445 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:7698445A>C uc003jdz.1 + 7 1134 c.1067A>C c.(1066-1068)AAG>ACG p.K356T ADCY2_uc011cmo.1_Missense_Mutation_p.K176T NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 356 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|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AACCATGCCAAGAACTGTGTG 0.333 ADAMTS12 81792 broad.mit.edu 37 5 33588882 33588882 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:33588882G>A uc003jia.1 - 18 2850 c.2687C>T c.(2686-2688)GCG>GTG p.A896V ADAMTS12_uc010iuq.1_Missense_Mutation_p.A811V NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 896 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CCCGCATGTCGCCGAGCATGC 0.592 HNSCC(64;0.19) OREG0016553 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) UGT3A1 133688 broad.mit.edu 37 5 35991293 35991293 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:35991293A>G uc003jjv.1 - 1 207 c.50T>C c.(49-51)GTC>GCC p.V17A UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.V17A|UGT3A1_uc011cor.1_Missense_Mutation_p.V17A|UGT3A1_uc003jjy.1_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 17 integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGAGAGCAGGACCCCAGAAAG 0.617 NUP155 9631 broad.mit.edu 37 5 37292998 37292998 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:37292998T>G uc003jku.1 - 34 4138 c.4020A>C c.(4018-4020)CAA>CAC p.Q1340H NUP155_uc003jkt.1_Missense_Mutation_p.Q1281H|NUP155_uc010iuz.1_Missense_Mutation_p.Q1276H NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1340 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATTTAAAACTTGGCTGGGAT 0.313 DAB2 1601 broad.mit.edu 37 5 39381699 39381699 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:39381699A>C uc003jlx.2 - 11 1892 c.1361T>G c.(1360-1362)CTT>CGT p.L454R DAB2_uc003jlw.2_Missense_Mutation_p.L433R NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 454 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) GTCTGATGCAAGCAAGTCATT 0.522 IPO11 51194 broad.mit.edu 37 5 61747732 61747732 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:61747732T>G uc003jtc.2 + 5 678 c.488T>G c.(487-489)CTT>CGT p.L163R IPO11_uc011cqr.1_Missense_Mutation_p.L203R|IPO11_uc003jtb.1_Missense_Mutation_p.L163R NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 163 cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TCTAAACGACTTGCTGCTGAT 0.308 MCC 4163 broad.mit.edu 37 5 112478959 112478959 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:112478959C>T uc003kqj.3 - 3 800 c.270G>A c.(268-270)GCG>GCA p.A90A MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.A280A|MCC_uc011cwb.1_Silent_p.A90A|MCC_uc010jcd.1_Silent_p.A52A NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 90 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TGTTGAGCTCCGCAATGACGC 0.552 PCDHA6 56142 broad.mit.edu 37 5 140208881 140208881 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:140208881A>G uc003lho.2 + 1 1232 c.1205A>G c.(1204-1206)AAG>AGG p.K402R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.K402R|PCDHA6_uc011dab.1_Missense_Mutation_p.K402R NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 402 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACCTTCAAGAATTACTAC 0.602 JAKMIP2 9832 broad.mit.edu 37 5 147040689 147040689 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:147040689A>G uc003loq.1 - 3 831 c.449T>C c.(448-450)CTT>CCT p.L150P JAKMIP2_uc011dbx.1_Missense_Mutation_p.L108P|JAKMIP2_uc003lor.1_Missense_Mutation_p.L150P|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L150P NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 150 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAGAGCTTAAGGCGCTCTGT 0.552 SPINK5 11005 broad.mit.edu 37 5 147480060 147480060 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:147480060T>C uc003lox.2 + 13 1209 c.1136T>C c.(1135-1137)CTT>CCT p.L379P SPINK5_uc010jgs.1_Missense_Mutation_p.L351P|SPINK5_uc010jgr.2_Missense_Mutation_p.L360P|SPINK5_uc003low.2_Missense_Mutation_p.L379P|SPINK5_uc003loy.2_Missense_Mutation_p.L379P NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 379 Kazal-like 6. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGGAAAACTTGCTTGCACC 0.473 FOXI1 2299 broad.mit.edu 37 5 169535259 169535259 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr5:169535259A>G uc003mai.3 + 2 826 c.781A>G c.(781-783)ACC>GCC p.T261A FOXI1_uc003maj.3_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 261 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGGGGCACCACCAGCTCCCC 0.632 Pendred_syndrome CDYL 9425 broad.mit.edu 37 6 4892402 4892402 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:4892402C>T uc003mwi.2 + 4 773 c.642C>T c.(640-642)AGC>AGT p.S214S CDYL_uc003mwj.2_Silent_p.S160S|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Silent_p.S28S|CDYL_uc011dhy.1_Silent_p.S28S NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 214 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) GCTTTCAGAGCGAGAGCCCTG 0.597 HIST1H1E 3008 broad.mit.edu 37 6 26156698 26156698 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:26156698C>T uc003ngq.2 + 1 140 c.80C>T c.(79-81)TCT>TTT p.S27F HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 27 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 GCCCGCAAGTCTGCAGGTGCG 0.652 C6orf25 80739 broad.mit.edu 37 6 31691171 31691171 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:31691171T>C uc011doc.1 + 1 11 c.11T>C c.(10-12)TTT>TCT p.F4S LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.F4S|C6orf25_uc011dod.1_Missense_Mutation_p.F4S|C6orf25_uc011doe.1_Missense_Mutation_p.F4S|C6orf25_uc003nwo.2_Missense_Mutation_p.F4S|C6orf25_uc003nwn.2_Missense_Mutation_p.F4S NM_138272 NP_612116 O95866 G6B_HUMAN G6B protein isoform G6b-B precursor 4 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity 0 ATGGCTGTGTTTCTGCAGCTG 0.627 TINAG 27283 broad.mit.edu 37 6 54191625 54191625 + Missense_Mutation SNP T T A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:54191625T>A uc003pcj.2 + 4 681 c.535T>A c.(535-537)TTT>ATT p.F179I TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 179 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTACAGCCAATTTTGGGGAAT 0.358 HMGCLL1 54511 broad.mit.edu 37 6 55406891 55406891 + Missense_Mutation SNP T T A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:55406891T>A uc003pcn.2 - 3 405 c.246A>T c.(244-246)GAA>GAT p.E82D HMGCLL1_uc003pco.2_Missense_Mutation_p.E52D|HMGCLL1_uc010jzx.2_Translation_Start_Site|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52D|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52D NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 82 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TAGGCCCAACTTCTACTATTT 0.313 BAI3 577 broad.mit.edu 37 6 70042852 70042852 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:70042852T>C uc003pev.3 + 24 3588 c.3140T>C c.(3139-3141)CTT>CCT p.L1047P BAI3_uc010kak.2_Missense_Mutation_p.L1047P|BAI3_uc011dxx.1_Missense_Mutation_p.L253P|BAI3_uc003pex.1_Missense_Mutation_p.L177P NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1047 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TTTAATAAACTTGTTTCCAGA 0.383 C6orf165 154313 broad.mit.edu 37 6 88173942 88173942 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:88173942T>G uc003plv.2 + 13 1935 c.1843T>G c.(1843-1845)TTA>GTA p.L615V SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.L427V|C6orf165_uc010kbv.1_RNA NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 615 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CAAGGTGAACTTAACTAGAGA 0.418 C6orf167 253714 broad.mit.edu 37 6 97626443 97626443 + Missense_Mutation SNP T T A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:97626443T>A uc003ppb.2 - 18 2821 c.2555A>T c.(2554-2556)CAG>CTG p.Q852L C6orf167_uc011eaf.1_Missense_Mutation_p.Q812L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 852 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) TTTGACCAACTGTTTCATGTA 0.269 MICAL1 64780 broad.mit.edu 37 6 109766483 109766483 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:109766483C>T uc003ptj.2 - 21 3052 c.2798G>A c.(2797-2799)CGG>CAG p.R933Q MICAL1_uc003ptk.2_Missense_Mutation_p.R933Q|MICAL1_uc010kdr.2_Missense_Mutation_p.R847Q|MICAL1_uc011eaq.1_Missense_Mutation_p.R952Q NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 933 Potential. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) ATTTAGTCGCCGTTGGATGGT 0.542 SLC35F1 222553 broad.mit.edu 37 6 118556704 118556704 + Silent SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:118556704A>C uc003pxx.3 + 3 583 c.382A>C c.(382-384)AGA>CGA p.R128R NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 128 transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) TTTACGACGAAGATGGTGGAA 0.393 BCLAF1 9774 broad.mit.edu 37 6 136599544 136599544 + Nonsense_Mutation SNP G G A rs140155621 byFrequency TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:136599544G>A uc003qgx.1 - 4 728 c.475C>T c.(475-477)CGA>TGA p.R159* BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R159*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R157*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R157* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 159 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGAGACCCTCGTCTTTTAGAA 0.433 UTRN 7402 broad.mit.edu 37 6 144844177 144844177 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:144844177T>G uc003qkt.2 + 40 5851 c.5759T>G c.(5758-5760)CTT>CGT p.L1920R NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1920 Spectrin 13. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTGGACAAACTTGGAGAGCAG 0.373 SYNE1 23345 broad.mit.edu 37 6 152809633 152809633 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr6:152809633T>G uc010kiw.2 - 12 1547 c.945A>C c.(943-945)GAA>GAC p.E315D SYNE1_uc003qot.3_Missense_Mutation_p.E322D|SYNE1_uc003qou.3_Missense_Mutation_p.E315D|SYNE1_uc010kjb.1_Missense_Mutation_p.E298D|SYNE1_uc003qpa.1_Missense_Mutation_p.E315D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 315 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTACTCTGTCTTCTCTCTGGA 0.299 HNSCC(10;0.0054) THSD7A 221981 broad.mit.edu 37 7 11676525 11676525 + Nonsense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr7:11676525C>T uc003ssf.3 - 2 506 c.254G>A c.(253-255)TGG>TAG p.W85* NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 85 TSP type-1 1.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATGAGCACACCACACAGCCCT 0.478 HNSCC(18;0.044) CCDC129 223075 broad.mit.edu 37 7 31682809 31682809 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr7:31682809T>G uc003tcj.1 + 11 2818 c.1825T>G c.(1825-1827)TTC>GTC p.F609V CCDC129_uc011kad.1_Missense_Mutation_p.F619V|CCDC129_uc003tci.1_Missense_Mutation_p.F460V|CCDC129_uc011kae.1_Missense_Mutation_p.F635V|CCDC129_uc003tck.1_Missense_Mutation_p.F517V NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 609 0 TCAAGACAAGTTCCTTCATGT 0.493 GLI3 2737 broad.mit.edu 37 7 42005998 42005998 + Silent SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr7:42005998C>T uc011kbh.1 - 15 2764 c.2673G>A c.(2671-2673)GTG>GTA p.V891V GLI3_uc011kbg.1_Silent_p.V832V NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 891 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 AGGAGTCGGCCACGCTCACGT 0.731 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome DLX5 1749 broad.mit.edu 37 7 96651605 96651605 + Nonsense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr7:96651605A>C uc003uon.2 - 2 640 c.432T>G c.(430-432)TAT>TAG p.Y144* DLX5_uc011kim.1_Nonsense_Mutation_p.Y144* NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 144 Homeobox. cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GAAAGCTGGAATAAATAGTCC 0.502 DOCK4 9732 broad.mit.edu 37 7 111640575 111640575 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr7:111640575A>G uc003vfx.2 - 3 405 c.136T>C c.(136-138)TTT>CTT p.F46L DOCK4_uc003vfy.2_Missense_Mutation_p.F46L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.F46L|DOCK4_uc003vgb.1_5'UTR NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 46 SH3. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TTTAAGGCAAATCCTCTGTAC 0.244 PTPRN2 5799 broad.mit.edu 37 7 157931083 157931083 + Missense_Mutation SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr7:157931083A>T uc003wno.2 - 7 1156 c.1035T>A c.(1033-1035)CAT>CAA p.H345Q PTPRN2_uc003wnp.2_Missense_Mutation_p.H328Q|PTPRN2_uc003wnq.2_Missense_Mutation_p.H345Q|PTPRN2_uc003wnr.2_Missense_Mutation_p.H307Q|PTPRN2_uc011kwa.1_Missense_Mutation_p.H368Q NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 345 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GAGCTACTCCATGGTCCACGC 0.667 CSMD1 64478 broad.mit.edu 37 8 2823471 2823471 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:2823471T>G uc011kwk.1 - 59 9499 c.9109A>C c.(9109-9111)AGT>CGT p.S3037R CSMD1_uc011kwj.1_Missense_Mutation_p.S2366R|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3037 Extracellular (Potential).|Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCCCACAACTTATAACTAAT 0.408 RP1L1 94137 broad.mit.edu 37 8 10466216 10466216 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:10466216T>G uc003wtc.2 - 4 5621 c.5392A>C c.(5392-5394)AGT>CGT p.S1798R NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1798 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCCCTTTCACTTATGCCCTCT 0.572 TUSC3 7991 broad.mit.edu 37 8 15480646 15480646 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:15480646T>G uc003wwt.2 + 2 406 c.196T>G c.(196-198)TTC>GTC p.F66V TUSC3_uc003wwr.2_Missense_Mutation_p.F66V|TUSC3_uc003wws.2_Missense_Mutation_p.F66V|TUSC3_uc003wwu.2_Missense_Mutation_p.F66V|TUSC3_uc003wwv.2_Missense_Mutation_p.F66V|TUSC3_uc003www.2_Missense_Mutation_p.F66V|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.F66V NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 66 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) ACGCTCAATCTTCCGAATGAA 0.388 CHD7 55636 broad.mit.edu 37 8 61655158 61655158 + Silent SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:61655158T>G uc003xue.2 + 2 1644 c.1167T>G c.(1165-1167)ACT>ACG p.T389T NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 389 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTCAGGGAACTTATGCCTCTC 0.527 CYP7B1 9420 broad.mit.edu 37 8 65527645 65527645 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:65527645T>G uc003xvj.2 - 4 1199 c.995A>C c.(994-996)AAG>ACG p.K332T NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 332 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AGACCCTTTCTTTTGACCTGT 0.443 KCNB2 9312 broad.mit.edu 37 8 73848300 73848300 + Missense_Mutation SNP A A T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:73848300A>T uc003xzb.2 + 3 1298 c.710A>T c.(709-711)GAG>GTG p.E237V NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 237 Helical; Name=Segment S2; (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GCACACGTGGAGGCTGTGTGT 0.458 ZFHX4 79776 broad.mit.edu 37 8 77616403 77616403 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:77616403T>C uc003yav.2 + 2 467 c.80T>C c.(79-81)CTT>CCT p.L27P ZFHX4_uc003yat.1_Missense_Mutation_p.L27P|ZFHX4_uc003yau.1_Missense_Mutation_p.L27P|ZFHX4_uc003yaw.1_Missense_Mutation_p.L27P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 27 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) ACGACACAACTTGATAATGAG 0.498 HNSCC(33;0.089) TMEM55A 55529 broad.mit.edu 37 8 92030645 92030645 + Silent SNP C C G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:92030645C>G uc003yes.2 - 4 685 c.459G>C c.(457-459)GTG>GTC p.V153V NM_018710 NP_061180 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 153 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(11;0.033) AGTGCCCACACACGACCCTTG 0.433 RIMS2 9699 broad.mit.edu 37 8 105263871 105263871 + Silent SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:105263871T>G uc003yls.2 + 28 4168 c.3927T>G c.(3925-3927)TCT>TCG p.S1309S RIMS2_uc003ylp.2_Silent_p.S1291S|RIMS2_uc003ylq.2_Silent_p.S1105S|RIMS2_uc003ylr.2_Silent_p.S1130S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1353 C2 2. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATCACAAATCTTTTATGGGAG 0.413 HNSCC(12;0.0054) ANGPT1 284 broad.mit.edu 37 8 108264166 108264166 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:108264166T>C uc003ymn.2 - 9 1882 c.1414A>G c.(1414-1416)AAT>GAT p.N472D ANGPT1_uc011lhv.1_Missense_Mutation_p.N272D|ANGPT1_uc003ymo.2_Missense_Mutation_p.N471D NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 472 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TTTATCCCATTCAGTTTTCCA 0.403 ZNF34 80778 broad.mit.edu 37 8 145998889 145998889 + Missense_Mutation SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr8:145998889T>C uc003zdy.3 - 6 1547 c.1445A>G c.(1444-1446)AAG>AGG p.K482R ZNF34_uc010mgb.2_Missense_Mutation_p.K379R|ZNF34_uc003zdx.3_Missense_Mutation_p.K461R NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 482 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) GTGGAAGGCCTTCCCACACTC 0.537 PTPRD 5789 broad.mit.edu 37 9 8341129 8341129 + Missense_Mutation SNP C C A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr9:8341129C>A uc003zkk.2 - 40 5798 c.5087G>T c.(5086-5088)GGA>GTA p.G1696V PTPRD_uc003zkp.2_Missense_Mutation_p.G1290V|PTPRD_uc003zkq.2_Missense_Mutation_p.G1289V|PTPRD_uc003zkr.2_Missense_Mutation_p.G1280V|PTPRD_uc003zks.2_Missense_Mutation_p.G1289V|PTPRD_uc003zkl.2_Missense_Mutation_p.G1687V|PTPRD_uc003zkm.2_Missense_Mutation_p.G1683V|PTPRD_uc003zkn.2_Missense_Mutation_p.G1285V|PTPRD_uc003zko.2_Missense_Mutation_p.G1286V NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1696 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTAATCAGATCCTTCTACTCC 0.388 TSP Lung(15;0.13) DENND4C 55667 broad.mit.edu 37 9 19346825 19346825 + Missense_Mutation SNP A A C rs144390071 byFrequency TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr9:19346825A>C uc003znq.2 + 18 3236 c.3203A>C c.(3202-3204)AAA>ACA p.K1068T DENND4C_uc011lnc.1_Missense_Mutation_p.K398T|DENND4C_uc011lnd.1_Missense_Mutation_p.K356T|DENND4C_uc003znr.2_Missense_Mutation_p.K356T|DENND4C_uc003zns.2_Missense_Mutation_p.K250T|DENND4C_uc003znt.2_Missense_Mutation_p.K250T NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1068 integral to membrane ovary(1)|skin(1) 2 TCCAGGTCTAAAACTTTTACT 0.478 ZNF322B 387328 broad.mit.edu 37 9 99961628 99961628 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr9:99961628A>C uc004axd.1 - 1 283 c.166T>G c.(166-168)TTA>GTA p.L56V uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron NM_199005 NP_945356 zinc finger protein 322B 0 Acute lymphoblastic leukemia(62;0.158) ATAAGAGCTAAGTTTTCACAC 0.358 ALAD 210 broad.mit.edu 37 9 116155727 116155727 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr9:116155727G>A uc011lxf.1 - 2 315 c.113C>T c.(112-114)ACG>ATG p.T38M ALAD_uc011lxe.1_Missense_Mutation_p.T38M|ALAD_uc004bhl.3_Missense_Mutation_p.R12C NM_000031 NP_000022 P13716 HEM2_HUMAN delta-aminolevulinic acid dehydratase 38 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding 0 Aminolevulinic acid(DB00855) GGAGACTCACGTGACAAAGAT 0.537 DBC1 1620 broad.mit.edu 37 9 121976287 121976287 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr9:121976287A>G uc004bkc.2 - 6 1288 c.832T>C c.(832-834)TGC>CGC p.C278R DBC1_uc004bkd.2_Missense_Mutation_p.C278R NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 278 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GTGATGGGGCAGTTGCACTGC 0.557 LHX3 8022 broad.mit.edu 37 9 139091542 139091542 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr9:139091542C>T uc004cha.2 - 3 533 c.436G>A c.(436-438)GAA>AAA p.E146K LHX3_uc004cgz.2_Missense_Mutation_p.E151K NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 146 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) TTGGCGGTTTCGTAGTCCGCC 0.657 TLR8 51311 broad.mit.edu 37 X 12940244 12940244 + Missense_Mutation SNP C C T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:12940244C>T uc004cve.2 + 2 3153 c.3085C>T c.(3085-3087)CGG>TGG p.R1029W TLR8_uc004cvd.2_Missense_Mutation_p.R1047W NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 1029 Cytoplasmic (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 AAATGATTCACGGTATAACAA 0.403 MAGEB6 158809 broad.mit.edu 37 X 26212865 26212865 + Missense_Mutation SNP G G A TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:26212865G>A uc004dbr.2 + 2 1051 c.902G>A c.(901-903)TGT>TAT p.C301Y MAGEB6_uc010ngc.1_Missense_Mutation_p.C81Y NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 301 MAGE. ovary(3) 3 AACGGCAACTGTGCCACTGAA 0.517 DMD 1756 broad.mit.edu 37 X 32430014 32430014 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:32430014T>G uc004dda.1 - 30 4332 c.4088A>C c.(4087-4089)AAG>ACG p.K1363T DMD_uc004dcw.2_Missense_Mutation_p.K19T|DMD_uc004dcx.2_Missense_Mutation_p.K22T|DMD_uc004dcz.2_Missense_Mutation_p.K1240T|DMD_uc004dcy.1_Missense_Mutation_p.K1359T|DMD_uc004ddb.1_Missense_Mutation_p.K1355T|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1363 Spectrin 9. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTCAAGCAACTTTTGCCTCCT 0.393 NRK 203447 broad.mit.edu 37 X 105132295 105132295 + Missense_Mutation SNP A A C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:105132295A>C uc004emd.2 + 5 564 c.261A>C c.(259-261)GAA>GAC p.E87D NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 87 Protein kinase. 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 AGGATGAGGAAGAGGATCTCA 0.413 HNSCC(51;0.14) NRK 203447 broad.mit.edu 37 X 105189886 105189886 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:105189886A>G uc004emd.2 + 25 4385 c.4082A>G c.(4081-4083)GAC>GGC p.D1361G NRK_uc011msi.1_5'Flank NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1361 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 CAATCAGCAGACTCTGAAGGA 0.438 HNSCC(51;0.14) TBC1D8B 54885 broad.mit.edu 37 X 106110054 106110054 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:106110054A>G uc004emo.2 + 17 2855 c.2690A>G c.(2689-2691)GAG>GGG p.E897G MORC4_uc004emp.3_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 897 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGTTTTACTGAGAAGCTTAAG 0.299 RGAG1 57529 broad.mit.edu 37 X 109695009 109695009 + Silent SNP G G T TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:109695009G>T uc004eor.1 + 3 1410 c.1164G>T c.(1162-1164)CCG>CCT p.P388P RGAG1_uc011msr.1_Silent_p.P388P NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 388 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TGTCTAATCCGCCAGTGAGAG 0.552 CDR1 1038 broad.mit.edu 37 X 139866175 139866175 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:139866175T>G uc004fbg.1 - 1 549 c.357A>C c.(355-357)GAA>GAC p.E119D uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 119 23 X 6 AA approximate repeats.|20. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AATCCTTGTCTTCCCTTAAAT 0.443 MAGEC1 9947 broad.mit.edu 37 X 140995251 140995251 + Missense_Mutation SNP T T G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:140995251T>G uc004fbt.2 + 4 2347 c.2061T>G c.(2059-2061)GAT>GAG p.D687E MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 687 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGGAGGATTCCCTGTCTC 0.577 HNSCC(15;0.026) MAGEC2 51438 broad.mit.edu 37 X 141290853 141290853 + Silent SNP T T C TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:141290853T>C uc004fbu.1 - 3 1269 c.921A>G c.(919-921)TCA>TCG p.S307S NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 307 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGATGCTTTCTGAATGGGCTC 0.463 HNSCC(46;0.14) MAGEA11 4110 broad.mit.edu 37 X 148797474 148797474 + Missense_Mutation SNP A A G TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chrX:148797474A>G uc004fdq.2 + 5 430 c.328A>G c.(328-330)ATC>GTC p.I110V HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.I81V NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 110 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AACCAGAGTCATCATGCCTCT 0.577 SPTBN2 6712 broad.mit.edu 37 11 66468026 66468026 + Frame_Shift_Del DEL G G - TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr11:66468026delG uc001ojd.2 - 16 3616 c.3544delC c.(3544-3546)CGTfs p.R1182fs NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1182 Spectrin 9. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TCAGCCTGACGAGCATCCCGC 0.647 TP53 7157 broad.mit.edu 37 17 7577090 7577096 + Frame_Shift_Del DEL CGCCGGT CGCCGGT - rs149633775 byFrequency TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr17:7577090_7577096delCGCCGGT uc002gim.2 - 8 1036_1042 c.842_848delACCGGCG c.(841-849)GACCGGCGCfs p.D281fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.D281fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.D149fs|TP53_uc010cng.1_Frame_Shift_Del_p.D149fs|TP53_uc002gii.1_Frame_Shift_Del_p.D149fs|TP53_uc010cnh.1_Frame_Shift_Del_p.D281fs|TP53_uc010cni.1_Frame_Shift_Del_p.D281fs|TP53_uc002gij.2_Frame_Shift_Del_p.D281fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 281_283 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and 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.R282W(366)|p.R282G(27)|p.D281E(25)|p.R283P(23)|p.R282Q(21)|p.D281H(19)|p.D281N(18)|p.R283C(17)|p.R282P(14)|p.R283H(12)|p.D281G(10)|p.R282R(8)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.R283L(4)|p.R283fs*62(4)|p.R282L(3)|p.D281V(3)|p.R283G(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.R282fs*24(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.F270_D281del12(1)|p.R282H(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)|p.R280fs*62(1)|p.R283_T284>T(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) TTCCTCTGTGCGCCGGTCTCTCCCAGG 0.556 111 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) GOLGA4 2803 broad.mit.edu 37 3 37365107 37365108 + Frame_Shift_Ins INS - - A rs34740077 TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr3:37365106_37365107G>GA uc003cgv.3 + 13 2089_2090 c.1729_1730G>GA c.(1729-1731)gaafs p.E577fs GOLGA4_uc010hgr.2_Frame_Shift_Ins_p.E138fs|GOLGA4_uc003cgw.3_Frame_Shift_Ins_p.E599fs|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Frame_Shift_Ins_p.E458fs NM_002078 NP_002069 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA. 577 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AAGTTCTTTGGAAAAAAGCTTA 0.307 UGT2B15 7366 broad.mit.edu 37 4 69535770 69535780 + Frame_Shift_Del DEL CAGAAATCCTC CAGAAATCCTC - TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr4:69535769_69535779ACAGAAATCCTC>A uc021xow.1 - 0 716_726 c.558_568GAGGATTTCTGT>T c.(556-570)ggaggatttctgttcfs p.G186fs NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 186 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity GAAGGAGGGAACAGAAATCCTCCACCATTCT 0.374 TTLL9 164395 broad.mit.edu 37 20 30458971 30458980 + Frame_Shift_Del DEL TGCCATTAGG TGCCATTAGG - TCGA-D7-6818-01A-11D-1882-08 TCGA-D7-6818-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4 e43a8401-dcc9-4189-ba15-228d8e9d0875 g.chr20:30458970_30458979CTGCCATTAGG>C uc010gdx.1 + 1 294_303 c.41_50CTGCCATTAGG>C c.(40-51)actgccattaggfs p.T14fs DUSP15_uc002wwu.1_5'Flank|DUSP15_uc002wwv.1_5'Flank|DUSP15_uc002www.1_5'Flank|DUSP15_uc002wwx.1_5'Flank|TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Intron NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA. 14 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCAGGCACAACTGCCATTAGGTGCCCCAAG 0.524