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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut NOC2L 26155 broad.mit.edu 37 1 891548 891548 + Silent SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:891548T>A uc001abz.3 - 5 593 c.534A>T c.(532-534)CGA>CGT p.R178R NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Silent_p.R178R NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 178 R -> Q (in Ref. 1; CAB43240). nucleolus protein binding ovary(1)|skin(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CCACAGCTGCTCGGAACGCCT 0.602 NA 77 37 0 0 0 0 ALPL 249 broad.mit.edu 37 1 21896804 21896804 + Missense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:21896804C>G uc001bet.2 + 8 1056 c.799C>G c.(799-801)CAC>GAC p.H267D ALPL_uc010odn.1_Missense_Mutation_p.H215D|ALPL_uc010odo.1_Missense_Mutation_p.H212D|ALPL_uc010odp.1_Missense_Mutation_p.H190D|ALPL_uc001beu.3_Missense_Mutation_p.H267D NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 267 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) CTAGCACTCCCACTTCATCTG 0.587 NA 46 20 0 0 0 0 PPT1 5538 broad.mit.edu 37 1 40542559 40542559 + Missense_Mutation SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:40542559T>A uc001cfb.2 - 8 985 c.753A>T c.(751-753)CAA>CAT p.Q251H PPT1_uc010ojf.1_Intron|PPT1_uc010ojg.1_Missense_Mutation_p.Q148H|PPT1_uc009vwa.2_RNA NM_000310 NP_000301 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 isoform 1 251 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity ovary(1) 1 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTTCCTTGGCTTGGCCACTTC 0.463 NA 20 200 0 0 0 0 TIE1 7075 broad.mit.edu 37 1 43783610 43783610 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:43783610G>A uc001ciu.2 + 17 2868 c.2789G>A c.(2788-2790)CGG>CAG p.R930Q TIE1_uc010oke.1_Missense_Mutation_p.R885Q|TIE1_uc009vwq.2_Missense_Mutation_p.R886Q|TIE1_uc010okg.1_Missense_Mutation_p.R575Q NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 930 Cytoplasmic (Potential).|Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATTTTCTGCGGAAAAGCCGG 0.532 NA 187 366 0 0 0 0 ITGA10 8515 broad.mit.edu 37 1 145535006 145535006 + Missense_Mutation SNP G G C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:145535006G>C uc001eoa.2 + 15 1985 c.1909G>C c.(1909-1911)GCC>CCC p.A637P NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.A506P|ITGA10_uc009wiw.2_Missense_Mutation_p.A494P|ITGA10_uc010oyw.1_Missense_Mutation_p.A582P NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 637 Extracellular (Potential).|FG-GAP 7. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCAGGGGGCAGCCATCCTGCT 0.438 NA 49 159 0 0 0 0 CLK2 1196 broad.mit.edu 37 1 155240700 155240700 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:155240700C>T uc001fjy.2 - 2 359 c.69G>A c.(67-69)CGG>CGA p.R23R RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Silent_p.R23R|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Silent_p.R23R NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 23 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTTTCGGCTCCGATAGTGTT 0.572 NA Other_conserved_DNA_damage_response_genes 59 145 0 0 0 0 LRRN2 10446 broad.mit.edu 37 1 204587388 204587388 + Missense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:204587388C>A uc001hbe.1 - 3 2121 c.1733G>T c.(1732-1734)GGA>GTA p.G578V MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.G578V|LRRN2_uc009xbf.1_Missense_Mutation_p.G578V|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 578 Extracellular (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GCTGTGGGTTCCCCGAGGCAG 0.647 NA 15 53 1.03e-11 1.11e-11 1 0 OR2W3 343171 broad.mit.edu 37 1 248059227 248059227 + Silent SNP G G T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:248059227G>T uc001idp.1 + 3 608 c.339G>T c.(337-339)CTG>CTT p.L113L OR2W3_uc010pzb.1_Silent_p.L113L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGAGTGCCTGCTTCTGGCTG 0.567 NA 49 94 1.33e-27 1.47e-27 1 0 CSTF2T 23283 broad.mit.edu 37 10 53459124 53459124 + Silent SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr10:53459124G>A uc001jjp.2 - 1 232 c.186C>T c.(184-186)TGC>TGT p.C62C PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 62 RRM. mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) CTTGGTATTCGCAGAAGCCAT 0.537 NA 75 149 0 0 0 0 CCAR1 55749 broad.mit.edu 37 10 70531028 70531028 + Silent SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr10:70531028A>G uc001joo.2 + 18 2483 c.2364A>G c.(2362-2364)AAA>AAG p.K788K CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.K593K|CCAR1_uc009xpx.1_Silent_p.K762K|CCAR1_uc001jon.1_Silent_p.K734K|CCAR1_uc010qiz.1_Silent_p.K773K|CCAR1_uc010qja.1_Silent_p.K773K|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 788 Glu-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 GTATATACAAATCATTACTGT 0.199 NA 54 118 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 95995857 95995857 + Silent SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr10:95995857G>A uc001kjk.2 + 7 3034 c.2400G>A c.(2398-2400)TTG>TTA p.L800L PLCE1_uc010qnx.1_Silent_p.L800L|PLCE1_uc001kjm.2_Silent_p.L492L NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 800 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) AAAGCTCCTTGAAGGATAAAA 0.458 NA 12 86 0 0 0 0 HPS1 3257 broad.mit.edu 37 10 100182223 100182223 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr10:100182223C>T uc010qpf.1 - 17 1892 c.1646G>A c.(1645-1647)CGC>CAC p.R549H HPS1_uc001kpi.1_Missense_Mutation_p.R550H|HPS1_uc001kpj.1_Missense_Mutation_p.R457H|HPS1_uc001kpk.1_Missense_Mutation_p.R374H NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 549 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CCCAGTGGTGCGGTCCACATA 0.562 NA Hermansky-Pudlak_syndrome 66 181 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17427072 17427072 + Missense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr11:17427072C>A uc001mnc.2 - 27 3494 c.3368G>T c.(3367-3369)AGA>ATA p.R1123I NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1123 Cytoplasmic (By similarity).|ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGATGAAAATCTGTTCAGGAT 0.512 NA 64 146 2.7e-31 3.02e-31 1 0 API5 8539 broad.mit.edu 37 11 43345053 43345053 + Missense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr11:43345053C>A uc010rfh.1 + 6 790 c.617C>A c.(616-618)ACA>AAA p.T206K API5_uc010rfg.1_Missense_Mutation_p.T195K|API5_uc001mxf.2_Missense_Mutation_p.T206K|API5_uc010rfi.1_Missense_Mutation_p.T152K|API5_uc001mxg.2_Missense_Mutation_p.T80K NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 206 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 AGCTTACAGACAGTGAGTGGA 0.438 NA 50 94 6.19e-15 6.68e-15 1 0 OR5T1 390155 broad.mit.edu 37 11 56043909 56043909 + Silent SNP G G C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr11:56043909G>C uc001nio.1 + 1 795 c.795G>C c.(793-795)GGG>GGC p.G265G NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 265 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TTTATCATGGGACAATCCTCT 0.418 NA 219 247 0 0 0 0 VWCE 220001 broad.mit.edu 37 11 61042028 61042028 + Nonsense_Mutation SNP G G C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr11:61042028G>C uc001nra.2 - 12 1803 c.1524C>G c.(1522-1524)TAC>TAG p.Y508* VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 508 VWFC 3. extracellular region calcium ion binding ovary(1) 1 CCCCGTCTGCGTACCACCGGC 0.552 NA 30 147 0 0 0 0 NDUFV1 4723 broad.mit.edu 37 11 67377002 67377002 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr11:67377002C>T uc001omj.2 + 4 559 c.406C>T c.(406-408)CAC>TAC p.H136Y NDUFV1_uc010rpv.1_Missense_Mutation_p.H35Y|NDUFV1_uc001oml.2_Missense_Mutation_p.H129Y|NDUFV1_uc001omk.3_Missense_Mutation_p.H127Y|NDUFV1_uc009yrz.1_Missense_Mutation_p.H35Y|NDUFV1_uc010rpw.1_5'Flank NM_007103 NP_009034 P49821 NDUV1_HUMAN NADH dehydrogenase ubiquinone flavoprotein 1 136 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) CCATGATCCTCACAAGCTGCT 0.632 NA 111 311 0 0 0 0 MYEOV 26579 broad.mit.edu 37 11 69062839 69062839 + Nonsense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr11:69062839C>A uc001oov.2 + 2 468 c.18C>A c.(16-18)TGC>TGA p.C6* MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Nonsense_Mutation_p.C6*|MYEOV_uc001oow.2_Intron NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 6 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) tcagaatctgcgtcacataca 0.055 NA 16 35 6.32e-08 6.67e-08 1 0 NCAPD2 9918 broad.mit.edu 37 12 6632162 6632162 + Missense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:6632162C>G uc001qoo.2 + 16 2169 c.2123C>G c.(2122-2124)TCT>TGT p.S708C NCAPD2_uc009zen.1_Missense_Mutation_p.S580C|NCAPD2_uc010sfd.1_Missense_Mutation_p.S663C NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 708 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 AAAGGGGACTCTGCCAGGTAT 0.542 NA 34 86 0 0 0 0 GYS2 2998 broad.mit.edu 37 12 21693415 21693415 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:21693415G>A uc001rfb.2 - 14 1993 c.1738C>T c.(1738-1740)CGC>TGC p.R580C NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 580 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 ATCCTTTGGCGGCGTGACTGT 0.438 NA 117 267 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49435775 49435775 + Splice_Site SNP T T C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:49435775T>C uc001rta.3 - 29 6110 c.6110_splice c.e29-1 p.D2037_splice NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTGACCAGTCTGGAGGGCAGA 0.557 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 14 2 0 0 0 0 SCN8A 6334 broad.mit.edu 37 12 52201177 52201177 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:52201177C>T uc001ryw.2 + 27 6085 c.5907C>T c.(5905-5907)GCC>GCT p.A1969A uc001rzb.1_5'Flank NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1969 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGGAAAGAGCCAAAAGACAAA 0.428 NA 16 23 0 0 0 0 ACVR1B 91 broad.mit.edu 37 12 52378996 52378996 + Nonsense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:52378996C>T uc001rzn.2 + 6 1042 c.1000C>T c.(1000-1002)CGA>TGA p.R334* ACVR1B_uc001rzl.2_Nonsense_Mutation_p.R334*|ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R334*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R375* NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 334 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) AATTGCTCATCGAGACTTAAA 0.363 NA 44 32 0 0 0 0 KRT5 3852 broad.mit.edu 37 12 52910945 52910945 + Missense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:52910945C>G uc001san.2 - 6 1327 c.1164G>C c.(1162-1164)GAG>GAC p.E388D KRT5_uc009zmh.2_Missense_Mutation_p.E388D NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 388 Rod.|Coil 2. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCGGTTCATCTCAGAGATCT 0.522 NA 180 100 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57571369 57571369 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:57571369C>T uc001snd.2 + 26 4822 c.4356C>T c.(4354-4356)GAC>GAT p.D1452D NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1452 Extracellular (Potential).|LDL-receptor class B 11. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.D1452D(1) ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTTGGATTGACGCCAGGTCAG 0.657 NA 11 53 0 0 0 0 KCNMB4 27345 broad.mit.edu 37 12 70824419 70824419 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:70824419C>T uc001svx.2 + 3 1072 c.619C>T c.(619-621)CGC>TGC p.R207C uc001svy.1_5'Flank NM_014505 NP_055320 Q86W47 KCMB4_HUMAN calcium-activated potassium channel beta 4 207 Cytoplasmic (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding 0 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CATGAAGAAGCGCAAGTTCTC 0.552 NA 54 15 0 0 0 0 CAMKK2 10645 broad.mit.edu 37 12 121701709 121701709 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr12:121701709G>A uc001tzu.2 - 6 783 c.659C>T c.(658-660)CCT>CTT p.P220L CAMKK2_uc001tzt.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzv.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzw.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzx.2_Missense_Mutation_p.P220L|CAMKK2_uc001tzy.2_Missense_Mutation_p.P220L|CAMKK2_uc001uaa.1_Missense_Mutation_p.P220L|CAMKK2_uc001uab.2_Missense_Mutation_p.P220L|CAMKK2_uc001uac.2_Missense_Mutation_p.P220L NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase 220 RP domain.|Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCAGCCTCCAGGAGCTGGCCG 0.612 NA 41 26 0 0 0 0 RNF17 56163 broad.mit.edu 37 13 25374506 25374506 + Missense_Mutation SNP T T C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr13:25374506T>C uc001upr.2 + 13 1633 c.1592T>C c.(1591-1593)GTT>GCT p.V531A RNF17_uc010tdd.1_Missense_Mutation_p.V390A|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.V531A|RNF17_uc001ups.2_Missense_Mutation_p.V470A NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 531 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCTCCTAGAGTTGTTGATACC 0.328 NA 53 159 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39264672 39264672 + Missense_Mutation SNP G G T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr13:39264672G>T uc001uwv.2 + 1 3500 c.3191G>T c.(3190-3192)AGC>ATC p.S1064I NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1064 Extracellular (Potential).|CSPG 7. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCTGTTGATAGCCAGGCCCCA 0.413 NA 92 168 4.08e-41 4.6e-41 1 0 L2HGDH 79944 broad.mit.edu 37 14 50736050 50736050 + Splice_Site SNP T T G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr14:50736050T>G uc001wxu.2 - 7 818 c.739_splice c.e7-1 p.G247_splice L2HGDH_uc010tqn.1_Splice_Site_p.G247_splice|L2HGDH_uc010tqo.1_Splice_Site_p.G247_splice NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase precursor 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity ovary(2) 2 all_epithelial(31;0.000599)|Breast(41;0.0102) TTCCTCTCCCTAGTGCAAAAT 0.383 NA 154 70 0 0 0 0 HIF1A 3091 broad.mit.edu 37 14 62207599 62207599 + Missense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr14:62207599C>G uc001xfq.2 + 12 2190 c.1786C>G c.(1786-1788)CAA>GAA p.Q596E HIF1A_uc001xfr.2_Missense_Mutation_p.Q596E|HIF1A_uc001xfs.2_Missense_Mutation_p.Q597E NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit 596 ID.|ODD. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) CGCAAGTCCTCAAAGCACAGT 0.448 NA 55 106 0 0 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515625 70515625 + Missense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr14:70515625C>G uc001xly.2 - 7 3020 c.2266G>C c.(2266-2268)GCC>CCC p.A756P SLC8A3_uc001xlu.2_Missense_Mutation_p.A113P|SLC8A3_uc001xlv.2_Missense_Mutation_p.A127P|SLC8A3_uc001xlw.2_Missense_Mutation_p.A753P|SLC8A3_uc001xlx.2_Missense_Mutation_p.A754P|SLC8A3_uc001xlz.2_Missense_Mutation_p.A750P|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.A113P NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 756 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GCGAAGCAGGCCCAGCCGTGG 0.582 NA 8 27 0 0 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033334 95033334 + Nonsense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr14:95033334C>G uc001ydk.2 + 3 743 c.677C>G c.(676-678)TCA>TGA p.S226* SERPINA4_uc010avd.2_Nonsense_Mutation_p.S263*|SERPINA4_uc001ydl.2_Nonsense_Mutation_p.S226* NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 226 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) TTCATTTCCTCAAGGACCACT 0.512 NA 39 100 0 0 0 0 FMN1 342184 broad.mit.edu 37 15 33260945 33260945 + Missense_Mutation SNP T T C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr15:33260945T>C uc001zhf.3 - 4 2288 c.2288A>G c.(2287-2289)TAT>TGT p.Y763C NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 986 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCTAGTCCAATATAAAGGCTT 0.463 NA 86 169 0 0 0 0 PKD1 5310 broad.mit.edu 37 16 2168022 2168022 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:2168022C>T uc002cos.1 - 5 1180 c.971G>A c.(970-972)CGC>CAC p.R324H PKD1_uc002cot.1_Missense_Mutation_p.R324H NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 324 Extracellular (Potential).|PKD 1. R -> L (in ADPKD1). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CAGCACATAGCGATGCGAGGC 0.711 NA 10 12 0 0 0 0 PGP 283871 broad.mit.edu 37 16 2264251 2264251 + Missense_Mutation SNP G G C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:2264251G>C uc002cpk.1 - 1 572 c.528C>G c.(526-528)TTC>TTG p.F176L PGP_uc010uvz.1_RNA NM_001042371 NP_001035830 A6NDG6 PGP_HUMAN phosphoglycolate phosphatase 176 carbohydrate metabolic process phosphoglycolate phosphatase activity skin(1) 1 TCATGTAGCTGAAGTGCGGGT 0.697 NA 6 25 0 0 0 0 ZG16B 124220 broad.mit.edu 37 16 2881955 2881955 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:2881955G>A uc002cru.2 + 4 498 c.422G>A c.(421-423)CGC>CAC p.R141H NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN zymogen granule protein 16 homolog B precursor 141 extracellular region sugar binding ovary(1) 1 AGCAAGGACCGCTATTTCTAT 0.537 NA 49 103 0 0 0 0 NLRC3 197358 broad.mit.edu 37 16 3613683 3613683 + Missense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:3613683C>G uc010btn.2 - 5 1666 c.1255G>C c.(1255-1257)GAC>CAC p.D419H NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 419 NACHT. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GCCTTCATGTCTTGCTCGTAA 0.592 NA 16 31 0 0 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565181 20565181 + Missense_Mutation SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:20565181A>G uc002dhj.3 - 6 868 c.658T>C c.(658-660)TTC>CTC p.F220L ACSM2B_uc002dhk.3_Missense_Mutation_p.F220L|ACSM2B_uc010bwf.1_Missense_Mutation_p.F220L NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 220 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CCACTAGTGAAGTAGATGGCA 0.512 NA 61 119 0 0 0 0 KCTD13 253980 broad.mit.edu 37 16 29923281 29923281 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:29923281C>T uc002duv.2 - 3 695 c.504G>A c.(502-504)AAG>AAA p.K168K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA NM_178863 NP_849194 Q8WZ19 BACD1_HUMAN potassium channel tetramerisation domain 168 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 GGGGCCTCACCTTGGAGGTGC 0.672 NA 14 24 0 0 0 0 ITGAM 3684 broad.mit.edu 37 16 31332573 31332573 + Silent SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:31332573C>A uc002ebq.2 + 15 1817 c.1719C>A c.(1717-1719)GGC>GGA p.G573G ITGAM_uc002ebr.2_Silent_p.G574G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_5'UTR|ITGAM_uc002ebs.1_5'UTR NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 573 Extracellular (Potential).|FG-GAP 7. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GGATAGCAGGCTCCAAGCTCT 0.542 NA 108 260 2.13e-42 2.41e-42 1 0 ARMC5 79798 broad.mit.edu 37 16 31477249 31477249 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:31477249C>T uc002ecc.2 + 5 2472 c.1943C>T c.(1942-1944)TCT>TTT p.S648F ARMC5_uc010vfn.1_Missense_Mutation_p.S743F|ARMC5_uc010vfo.1_Missense_Mutation_p.S680F|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.S456F|ARMC5_uc002ecb.2_Missense_Mutation_p.S648F NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 648 binding pancreas(1) 1 CTGCTGCTCTCTGGGAGCCCT 0.647 NA 4 110 0 0 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53639439 53639439 + Silent SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:53639439G>A uc002ehp.2 - 26 3853 c.3789C>T c.(3787-3789)GCC>GCT p.A1263A RPGRIP1L_uc002eho.3_Silent_p.A1183A|RPGRIP1L_uc010vgy.1_Silent_p.A1217A|RPGRIP1L_uc010cbx.2_Silent_p.A1229A|RPGRIP1L_uc010vgz.1_Silent_p.A1217A NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 1263 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) GAAACATGTCGGCAAGGTCGA 0.527 NA 36 98 0 0 0 0 WWOX 51741 broad.mit.edu 37 16 78133748 78133748 + Nonsense_Mutation SNP A A T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:78133748A>T uc002ffk.2 + 1 198 c.73A>T c.(73-75)AGA>TGA p.R25* WWOX_uc010vnk.1_5'UTR|WWOX_uc002ffl.2_Nonsense_Mutation_p.R25*|WWOX_uc010che.2_Nonsense_Mutation_p.R25*|WWOX_uc002ffj.1_Nonsense_Mutation_p.R25*|WWOX_uc002ffi.1_Nonsense_Mutation_p.R25* NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 25 WW 1. apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) CTGGGAGGAGAGAACCACCAA 0.701 NA OREG0023952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 0 0 0 0 ATMIN 23300 broad.mit.edu 37 16 81077308 81077308 + Missense_Mutation SNP C C T rs139034682 TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:81077308C>T uc002ffz.1 + 4 1223 c.1205C>T c.(1204-1206)ACG>ATG p.T402M ATMIN_uc002fga.2_Missense_Mutation_p.T244M|ATMIN_uc010vnn.1_Missense_Mutation_p.T173M|ATMIN_uc002fgb.1_Missense_Mutation_p.T244M NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 402 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding 0 CTAGGGAACACGTGTCAAAAG 0.403 NA 76 140 0 0 0 0 CDH15 1013 broad.mit.edu 37 16 89257810 89257810 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr16:89257810C>T uc002fmt.2 + 9 1382 c.1305C>T c.(1303-1305)CAC>CAT p.H435H NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 435 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) AGACCCAGCACGTGCTCAGCC 0.672 NA 24 35 0 0 0 0 POLR2A 5430 broad.mit.edu 37 17 7415500 7415500 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:7415500C>T uc002ghf.3 + 26 4563 c.4329C>T c.(4327-4329)GCC>GCT p.A1443A NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1443 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) TGGAAGCAGCCGCACACGGTG 0.617 NA 25 47 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578419 7578419 + Nonsense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:7578419C>A uc002gim.2 - 5 705 c.511G>T c.(511-513)GAG>TAG p.E171* TP53_uc002gig.1_Nonsense_Mutation_p.E171*|TP53_uc002gih.2_Nonsense_Mutation_p.E171*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E39*|TP53_uc010cng.1_Nonsense_Mutation_p.E39*|TP53_uc002gii.1_Nonsense_Mutation_p.E39*|TP53_uc010cnh.1_Nonsense_Mutation_p.E171*|TP53_uc010cni.1_Nonsense_Mutation_p.E171*|TP53_uc002gij.2_Nonsense_Mutation_p.E171*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.E78*|TP53_uc002gio.2_Nonsense_Mutation_p.E39*|TP53_uc010vug.1_Nonsense_Mutation_p.E132* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 171 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(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) CTCACAACCTCCGTCATGTGC 0.662 111 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) 69 45 4.67e-28 5.21e-28 1 0 DNAH2 146754 broad.mit.edu 37 17 7734485 7734485 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:7734485C>T uc002giu.1 + 79 12326 c.12312C>T c.(12310-12312)GGC>GGT p.G4104G DNAH2_uc010cnm.1_Silent_p.G1042G NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4104 TPR 4. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TATTGCCTGGCATGGACCCCC 0.507 NA 170 429 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10295236 10295236 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:10295236G>A uc002gmm.2 - 39 5722 c.5627C>T c.(5626-5628)GCG>GTG p.A1876V uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1876 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTTCACCTTCGCCTGTAATTT 0.383 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 115 282 0 0 0 0 MPRIP 23164 broad.mit.edu 37 17 17079760 17079760 + Silent SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:17079760A>G uc002gqu.1 + 20 2786 c.2730A>G c.(2728-2730)GAA>GAG p.E910E MPRIP_uc002gqv.1_Silent_p.E910E|MPRIP_uc002gqw.1_Silent_p.E665E|MPRIP_uc002gqx.1_Silent_p.E1139E|MPRIP_uc002gqy.1_Silent_p.E1139E|MPRIP_uc010cpl.1_Silent_p.E96E|MPRIP_uc010cpm.1_Silent_p.E96E NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 910 Potential. cytoplasm|cytoskeleton actin binding 0 GGGTAAAGGAATCGGAAATAC 0.532 NA 77 190 0 0 0 0 CYTSB 92521 broad.mit.edu 37 17 20109083 20109083 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:20109083C>T uc002gwq.2 + 4 1866 c.1721C>T c.(1720-1722)ACG>ATG p.T574M CYTSB_uc010cqx.2_Missense_Mutation_p.T574M|CYTSB_uc002gwr.2_Missense_Mutation_p.T574M|CYTSB_uc002gws.2_Missense_Mutation_p.T574M|CYTSB_uc002gwv.2_Missense_Mutation_p.T493M|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.T350M|CYTSB_uc002gwt.2_Missense_Mutation_p.T493M|CYTSB_uc002gwu.2_Missense_Mutation_p.T493M NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 574 nucleus 0 GTGGAGCAGACGGCAGAGAGC 0.463 NA 53 104 0 0 0 0 TRAF4 9618 broad.mit.edu 37 17 27075534 27075534 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:27075534C>T uc002hcs.2 + 6 738 c.630C>T c.(628-630)CAC>CAT p.H210H TRAF4_uc002hcq.1_Intron NM_004295 NP_004286 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 210 TRAF-type 3. apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding upper_aerodigestive_tract(1)|lung(1) 2 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) CCCAGAGCCACCAGTACCAGT 0.597 NA 12 32 0 0 0 0 COL1A1 1277 broad.mit.edu 37 17 48263803 48263803 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:48263803C>T uc002iqm.2 - 49 4006 c.3880G>A c.(3880-3882)GAG>AAG p.E1294K NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 1294 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) TCACCAGTCTCCATGTTGCAG 0.552 NA T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 50 98 0 0 0 0 LUC7L3 51747 broad.mit.edu 37 17 48823124 48823124 + Missense_Mutation SNP G G A rs146274793 byFrequency TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:48823124G>A uc002isr.2 + 8 854 c.737G>A c.(736-738)CGT>CAT p.R246H LUC7L3_uc010wmw.1_Missense_Mutation_p.R170H|LUC7L3_uc002isq.2_Missense_Mutation_p.R246H|LUC7L3_uc002iss.2_Missense_Mutation_p.R246H NM_006107 NP_006098 O95232 LC7L3_HUMAN LUC7-like 3 246 Arg/Ser-rich.|Glu-rich. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding 0 CGTGATGAGCGTCTAAAAAAG 0.189 NA 14 26 0 0 0 0 BCAS3 54828 broad.mit.edu 37 17 59115302 59115302 + Silent SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:59115302C>A uc002iyv.3 + 19 1969 c.1860C>A c.(1858-1860)GGC>GGA p.G620G BCAS3_uc010wow.1_Silent_p.G392G|BCAS3_uc002iyu.3_Silent_p.G605G|BCAS3_uc002iyw.3_Silent_p.G601G|BCAS3_uc002iyy.3_Silent_p.G376G|BCAS3_uc002iyz.3_Silent_p.G174G|BCAS3_uc002iza.3_Silent_p.G159G NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 620 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GTTGCTATGGCACCTTAGTGG 0.478 NA 252 113 8.49e-111 9.62e-111 1 0 FTSJ3 117246 broad.mit.edu 37 17 61897782 61897782 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr17:61897782C>T uc002jbz.2 - 18 2167 c.2089G>A c.(2089-2091)GAT>AAT p.D697N FTSJ3_uc002jca.2_Missense_Mutation_p.D697N NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 697 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 TCCCCCTCATCCTCATTAAAT 0.413 NA 56 143 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397351 5397351 + Missense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr18:5397351C>G uc002kmt.1 - 18 2633 c.2547G>C c.(2545-2547)GAG>GAC p.E849D EPB41L3_uc010wzh.1_Missense_Mutation_p.E680D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E627D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E518D|EPB41L3_uc002kms.1_Missense_Mutation_p.E84D|EPB41L3_uc010wze.1_Missense_Mutation_p.E154D|EPB41L3_uc010wzf.1_Missense_Mutation_p.E146D|EPB41L3_uc010wzg.1_Missense_Mutation_p.E121D|EPB41L3_uc010dkr.2_Missense_Mutation_p.E241D NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 849 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GCACCACCTTCTCAGTGCTAA 0.592 NA 44 69 0 0 0 0 RIOK3 8780 broad.mit.edu 37 18 21053506 21053506 + Missense_Mutation SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr18:21053506T>A uc002kui.3 + 8 1546 c.929T>A c.(928-930)TTC>TAC p.F310Y RIOK3_uc010dls.2_Missense_Mutation_p.F310Y|RIOK3_uc010xas.1_Missense_Mutation_p.F294Y|RIOK3_uc010xat.1_Intron NM_003831 NP_003822 O14730 RIOK3_HUMAN sudD suppressor of bimD6 homolog 310 Protein kinase. chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(1) 3 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAAGATGATTTCAGGTTTAAA 0.328 NA 22 56 0 0 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024676 55024676 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr18:55024676G>A uc002lgn.2 + 3 1192 c.835G>A c.(835-837)GGA>AGA p.G279R NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 279 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.G279E(1) breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GGCTTGGCCGGGAAATATAAT 0.408 NA 57 142 0 0 0 0 DOCK6 57572 broad.mit.edu 37 19 11363491 11363491 + Silent SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr19:11363491G>A uc002mqs.3 - 3 317 c.276C>T c.(274-276)TGC>TGT p.C92C NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 92 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CCGTGGTCCGGCATTCCCGGG 0.622 NA 3 44 0 0 0 0 CACNA1A 773 broad.mit.edu 37 19 13323202 13323202 + Missense_Mutation SNP G G C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr19:13323202G>C uc010dze.2 - 42 6424 c.6188C>G c.(6187-6189)TCT>TGT p.S2063C CACNA1A_uc010xnd.1_Missense_Mutation_p.S768C|CACNA1A_uc002mwx.3_Missense_Mutation_p.S768C|CACNA1A_uc010dzc.2_Missense_Mutation_p.S1588C|CACNA1A_uc002mwy.3_Missense_Mutation_p.S2062C|CACNA1A_uc002mwv.3_Missense_Mutation_p.S579C NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 2063 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AGGCACCTGAGAGTTAGGCTG 0.647 NA 5 36 0 0 0 0 ABHD8 79575 broad.mit.edu 37 19 17412027 17412027 + Silent SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr19:17412027G>A uc002ngb.3 - 2 639 c.399C>T c.(397-399)CCC>CCT p.P133P NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 133 hydrolase activity 0 ctgcgctgccgGGGGCCAAGC 0.507 NA 9 14 0 0 0 0 ZNF529 57711 broad.mit.edu 37 19 37038095 37038095 + Silent SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr19:37038095A>G uc002oeh.3 - 5 1567 c.1365T>C c.(1363-1365)TGT>TGC p.C455C ZNF529_uc010xth.1_Silent_p.C455C|ZNF529_uc010xti.1_Silent_p.C437C|ZNF529_uc002oeg.3_Silent_p.C350C NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a 422 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AGAACTTTCCACACTCCTTAC 0.368 NA 25 76 0 0 0 0 ZNF546 339327 broad.mit.edu 37 19 40520097 40520097 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr19:40520097G>A uc002oms.2 + 7 1176 c.920G>A c.(919-921)GGG>GAG p.G307E ZNF546_uc002omt.2_Missense_Mutation_p.G281E NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 307 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAGGAATGTGGGAAAGCCTTT 0.408 NA 71 158 0 0 0 0 LILRA2 11027 broad.mit.edu 37 19 55087422 55087422 + Silent SNP G G T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr19:55087422G>T uc002qgg.3 + 6 1190 c.1101G>T c.(1099-1101)CTG>CTT p.L367L LILRA2_uc010ern.2_Silent_p.L367L|LILRA2_uc002qgf.2_Silent_p.L367L|LILRA2_uc010yfe.1_Silent_p.L367L|LILRA2_uc010yff.1_Silent_p.L355L|LILRA2_uc010ero.2_Silent_p.L355L|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 367 Ig-like C2-type 4.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CACTGCATCTGAGATCAGAGC 0.587 NA 52 82 4.33e-22 4.78e-22 1 0 NCR1 9437 broad.mit.edu 37 19 55417683 55417683 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr19:55417683G>A uc002qib.2 + 2 99 c.61G>A c.(61-63)GCC>ACC p.A21T NCR1_uc002qic.2_Missense_Mutation_p.A21T|NCR1_uc002qie.2_Missense_Mutation_p.A21T|NCR1_uc002qid.2_Missense_Mutation_p.A21T|NCR1_uc002qif.2_Missense_Mutation_p.A21T|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 21 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) GAGGATCAGCGCCCAGCAGCG 0.612 NA 32 56 0 0 0 0 OTOF 9381 broad.mit.edu 37 2 26717900 26717900 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:26717900C>T uc002rhk.2 - 9 934 c.807G>A c.(805-807)TTG>TTA p.L269L NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 269 Cytoplasmic (Potential).|C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTCCATGTTCAAGCCCACCA 0.597 NA 36 86 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50463980 50463980 + Missense_Mutation SNP A A T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:50463980A>T uc010fbp.2 - 2 1195 c.388T>A c.(388-390)TTG>ATG p.L130M NRXN1_uc002rxb.3_Missense_Mutation_p.L837M|NRXN1_uc010fbq.2_Missense_Mutation_p.L1205M|NRXN1_uc002rxe.3_Missense_Mutation_p.L1165M|NRXN1_uc002rxc.1_RNA NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 130 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACTCGCACCAATACGGCTTCT 0.438 NA 27 74 0 0 0 0 MAT2A 4144 broad.mit.edu 37 2 85769770 85769770 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:85769770G>A uc002spr.2 + 7 974 c.851G>A c.(850-852)GGA>GAA p.G284E MAT2A_uc010ysr.1_Missense_Mutation_p.G284E|MAT2A_uc010fgk.2_Missense_Mutation_p.G258E|MAT2A_uc010fgl.2_Missense_Mutation_p.G221E NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 284 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GCCTTTTCAGGAAAGGATTAT 0.493 NA 41 76 0 0 0 0 TEKT4 150483 broad.mit.edu 37 2 95539278 95539278 + Missense_Mutation SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:95539278T>A uc002stw.1 + 2 605 c.512T>A c.(511-513)ATC>AAC p.I171N uc002stv.1_RNA|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 171 Potential. cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 GCCGAGCTCATCCGGAACATT 0.607 NA 31 63 0 0 0 0 DBI 1622 broad.mit.edu 37 2 120128364 120128364 + Nonsense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:120128364G>A uc002tlv.2 + 3 300 c.176G>A c.(175-177)TGG>TAG p.W59* DBI_uc010yyh.1_Nonsense_Mutation_p.W76*|DBI_uc010yyi.1_Nonsense_Mutation_p.W76*|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Nonsense_Mutation_p.W101*|DBI_uc010yyl.1_Nonsense_Mutation_p.W76*|DBI_uc010yym.1_Nonsense_Mutation_p.W69*|DBI_uc010yyn.1_Nonsense_Mutation_p.W76*|DBI_uc002tlw.2_Nonsense_Mutation_p.W76*|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Nonsense_Mutation_p.W60* NM_001079862 NP_001073331 P07108 ACBP_HUMAN diazepam binding inhibitor isoform 3 59 ACB. transport benzodiazepine receptor binding|fatty-acyl-CoA binding 0 TGGGATGCCTGGAATGAGCTG 0.423 NA 15 48 0 0 0 0 R3HDM1 23518 broad.mit.edu 37 2 136418927 136418927 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:136418927C>T uc002tuo.2 + 18 2381 c.2011C>T c.(2011-2013)CTA>TTA p.L671L R3HDM1_uc010fni.2_Silent_p.L670L|R3HDM1_uc002tup.2_Silent_p.L616L|R3HDM1_uc010zbh.1_Silent_p.L419L NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 671 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) CAATTCACATCTAAACCAACC 0.458 NA 55 110 0 0 0 0 PLA2R1 22925 broad.mit.edu 37 2 160843742 160843742 + Missense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:160843742C>A uc002ube.1 - 12 2169 c.1962G>T c.(1960-1962)GAG>GAT p.E654D PLA2R1_uc010zcp.1_Missense_Mutation_p.E654D|PLA2R1_uc002ubf.2_Missense_Mutation_p.E654D NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 654 Extracellular (Potential). endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TCTCTTCATACTCTGCTTTTT 0.502 NA 57 112 2.12e-23 2.35e-23 1 0 GRB14 2888 broad.mit.edu 37 2 165378524 165378524 + Missense_Mutation SNP G G C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:165378524G>C uc002ucl.2 - 6 1323 c.782C>G c.(781-783)TCT>TGT p.S261C GRB14_uc010zcv.1_Missense_Mutation_p.S174C|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 261 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 ATATAAACCAGATCTTCTTAG 0.313 NA 40 107 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168067394 168067394 + Missense_Mutation SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:168067394T>A uc002udx.2 + 3 730 c.712T>A c.(712-714)TTC>ATC p.F238I XIRP2_uc010fpn.2_Missense_Mutation_p.F271I|XIRP2_uc010fpo.2_Missense_Mutation_p.F238I|XIRP2_uc010fpp.2_Missense_Mutation_p.F238I|XIRP2_uc002udy.2_Missense_Mutation_p.F63I|XIRP2_uc010fpq.2_Missense_Mutation_p.F16I|XIRP2_uc010fpr.2_Missense_Mutation_p.F16I NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 63 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTGCCGCAGCTTCTCTGCTAA 0.512 NA 32 99 0 0 0 0 BARD1 580 broad.mit.edu 37 2 215645700 215645700 + Missense_Mutation SNP G G T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:215645700G>T uc002veu.2 - 4 1033 c.898C>A c.(898-900)CCT>ACT p.P300T BARD1_uc010zjm.1_Missense_Mutation_p.P156T NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 300 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACCTTCTCAGGAGTCACTACT 0.383 NA Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 46 138 3.55e-21 3.91e-21 1 0 ISM1 140862 broad.mit.edu 37 20 13251361 13251361 + Missense_Mutation SNP G G C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr20:13251361G>C uc010gce.1 + 2 355 c.349G>C c.(349-351)GAT>CAT p.D117H TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 117 extracellular region 0 TTCCAAAGCTGATATCAATGG 0.443 NA 7 45 0 0 0 0 PYGB 5834 broad.mit.edu 37 20 25262777 25262777 + Silent SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr20:25262777C>A uc002wup.2 + 12 1621 c.1512C>A c.(1510-1512)ATC>ATA p.I504I NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 504 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) CCGATACCATCGTGGAGGTGA 0.622 NA 5 47 0.000673444 0.000691547 1 0 TTLL9 164395 broad.mit.edu 37 20 30497542 30497542 + Silent SNP G G T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr20:30497542G>T uc010gdx.1 + 6 574 c.321G>T c.(319-321)CTG>CTT p.L107L TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 107 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCACCCAGCTGACCCGGAAGA 0.632 NA 16 53 1.57e-10 1.68e-10 1 0 KCNS1 3787 broad.mit.edu 37 20 43726837 43726837 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr20:43726837C>T uc002xnc.2 - 4 973 c.576G>A c.(574-576)GCG>GCA p.A192A KCNS1_uc002xnd.2_Silent_p.A192A NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 192 Cytoplasmic (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) CGCCATAGCGCGCCAGTTCTC 0.716 NA 7 24 0 0 0 0 EMID1 129080 broad.mit.edu 37 22 29654896 29654896 + Missense_Mutation SNP G G A rs138347786 TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr22:29654896G>A uc003aen.2 + 15 1364 c.1289G>A c.(1288-1290)CGG>CAG p.R430Q EMID1_uc003aem.2_Missense_Mutation_p.R432Q|EMID1_uc003aeo.2_Missense_Mutation_p.R434Q|EMID1_uc003aep.2_Missense_Mutation_p.R411Q NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 430 collagen 0 ACCAACTACCGGATCGTGGCC 0.716 NA 23 47 0 0 0 0 LARGE 9215 broad.mit.edu 37 22 34046371 34046371 + Silent SNP C C A rs114558328 by1000genomes TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr22:34046371C>A uc003and.3 - 4 969 c.390G>T c.(388-390)CCG>CCT p.P130P LARGE_uc003ane.3_Silent_p.P130P|LARGE_uc010gwp.2_Silent_p.P130P|LARGE_uc011ame.1_Silent_p.P62P|LARGE_uc011amf.1_Silent_p.P130P NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 130 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) TCTCCACGACCGGCTGCTGCC 0.597 NA 52 143 2.17e-29 2.42e-29 1 0 CSF2RB 1439 broad.mit.edu 37 22 37325494 37325494 + Missense_Mutation SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr22:37325494T>A uc003aqa.3 + 5 659 c.442T>A c.(442-444)TTC>ATC p.F148I CSF2RB_uc003aqc.3_Missense_Mutation_p.F148I NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 148 Fibronectin type-III 1.|Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CCAGGACCACTTCCTGCTGAC 0.637 NA 99 184 0 0 0 0 MEI1 150365 broad.mit.edu 37 22 42180639 42180639 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr22:42180639C>T uc003baz.1 + 26 3222 c.3197C>T c.(3196-3198)GCC>GTC p.A1066V WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.A452V|MEI1_uc003bbc.1_Missense_Mutation_p.A434V|MEI1_uc010gym.1_Missense_Mutation_p.A399V|MEI1_uc003bbd.1_Missense_Mutation_p.A309V|MEI1_uc010gyn.1_Intron|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_Missense_Mutation_p.A80V|MEI1_uc010gyo.1_Intron|MEI1_uc003bbf.2_Missense_Mutation_p.A80V|MEI1_uc003bbg.2_Missense_Mutation_p.A80V NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 1066 binding central_nervous_system(1)|skin(1) 2 CTGCGGACAGCCCTGCGACAA 0.597 NA 3 60 0 0 0 0 CNOT10 25904 broad.mit.edu 37 3 32750219 32750219 + Missense_Mutation SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:32750219T>A uc003cfc.1 + 4 592 c.337T>A c.(337-339)TAC>AAC p.Y113N CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfd.1_Missense_Mutation_p.Y113N|CNOT10_uc003cfe.1_Missense_Mutation_p.Y113N|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.Y173N|CNOT10_uc010hfw.1_5'UTR NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 113 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding central_nervous_system(1)|skin(1) 2 CAGCATGTTGTACTATAATCA 0.348 NA 49 47 0 0 0 0 LIMD1 8994 broad.mit.edu 37 3 45636953 45636953 + Silent SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:45636953A>G uc003coq.2 + 1 631 c.582A>G c.(580-582)CCA>CCG p.P194P NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 194 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) GTGACAAACCAGGAGTGTCCC 0.607 NA 48 49 0 0 0 0 DTX3L 151636 broad.mit.edu 37 3 122287599 122287599 + Silent SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:122287599T>A uc003efk.2 + 3 752 c.663T>A c.(661-663)TCT>TCA p.S221S DTX3L_uc010hrj.2_Intron NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 221 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) GCTGCATTTCTCCTTCTGAAC 0.413 NA 26 47 0 0 0 0 DNAJC13 23317 broad.mit.edu 37 3 132215495 132215495 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:132215495C>T uc003eor.2 + 36 4209 c.4144C>T c.(4144-4146)CGT>TGT p.R1382C NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1382 heat shock protein binding ovary(1)|breast(1) 2 CCTCTTCAACCGTCATAAAGA 0.348 NA 22 170 0 0 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135797293 135797293 + Missense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:135797293C>A uc003eqv.1 + 7 3194 c.2629C>A c.(2629-2631)CAA>AAA p.Q877K PPP2R3A_uc011blz.1_Missense_Mutation_p.Q141K|PPP2R3A_uc003eqw.1_Missense_Mutation_p.Q256K|PPP2R3A_uc011bma.1_RNA NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 877 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 CAACTTTTTGCAAGTATGCCT 0.254 NA 22 80 0.00229938 0.00234856 1 0 ARL14 80117 broad.mit.edu 37 3 160395542 160395542 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:160395542C>T uc003fdq.2 + 1 595 c.408C>T c.(406-408)ATC>ATT p.I136I NM_025047 NP_079323 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 136 small GTPase mediated signal transduction intracellular GTP binding 0 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) CTGAGGACATCACCAGAATGT 0.488 NA 34 99 0 0 0 0 PLD1 5337 broad.mit.edu 37 3 171406608 171406608 + Missense_Mutation SNP T T C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:171406608T>C uc003fhs.2 - 14 1513 c.1397A>G c.(1396-1398)AAG>AGG p.K466R PLD1_uc003fht.2_Missense_Mutation_p.K466R NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 466 PLD phosphodiesterase 1.|Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GATGACAAGCTTCTCATGGTG 0.498 NA 20 109 0 0 0 0 NLGN1 22871 broad.mit.edu 37 3 173993199 173993199 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:173993199C>T uc003fio.1 + 5 1164 c.741C>T c.(739-741)TTC>TTT p.F247F NLGN1_uc010hww.1_Silent_p.F287F|NLGN1_uc003fip.1_Silent_p.F247F NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 264 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ACATTGGATTCTTTGGTGGTG 0.438 NA 50 205 0 0 0 0 OSTN 344901 broad.mit.edu 37 3 190930421 190930421 + Missense_Mutation SNP G G C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:190930421G>C uc011bsn.1 + 1 100 c.100G>C c.(100-102)GAG>CAG p.E34Q NM_198184 NP_937827 P61366 OSTN_HUMAN osteocrin precursor 34 cell differentiation|multicellular organismal development|ossification hormone activity pancreas(1)|skin(1) 2 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) AACAACAACAGAGGTAATGGA 0.343 NA 24 61 0 0 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2273119 2273119 + Missense_Mutation SNP G G T rs146945400 TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr4:2273119G>T uc003gex.1 - 12 2770 c.2451C>A c.(2449-2451)GAC>GAA p.D817E ZFYVE28_uc011bvk.1_Missense_Mutation_p.D747E|ZFYVE28_uc011bvl.1_Missense_Mutation_p.D787E|ZFYVE28_uc003gew.1_Missense_Mutation_p.D703E NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 817 FYVE-type. negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 CACAGGCCTCGTCTGGCACCC 0.662 NA 6 16 1.5e-05 1.56e-05 1 0 TADA2B 93624 broad.mit.edu 37 4 7056307 7056307 + Nonsense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr4:7056307C>G uc003gjw.3 + 2 940 c.789C>G c.(787-789)TAC>TAG p.Y263* TADA2B_uc010idi.2_Nonsense_Mutation_p.Y188* NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 GGCCGCTGTACCAGTTCATGT 0.527 NA 15 56 0 0 0 0 PHOX2B 8929 broad.mit.edu 37 4 41749528 41749528 + Silent SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr4:41749528G>A uc003gwf.3 - 2 627 c.267C>T c.(265-267)CAC>CAT p.H89H NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 89 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 TGAGGCCGCCGTGGTCCGTGA 0.577 NA Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 53 147 0 0 0 0 TXK 7294 broad.mit.edu 37 4 48096216 48096216 + Missense_Mutation SNP G G T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr4:48096216G>T uc003gxx.3 - 8 673 c.587C>A c.(586-588)ACG>AAG p.T196K TXK_uc003gxy.1_Missense_Mutation_p.T196K NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 196 SH2. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GGCAGCCTCCGTACTTCTACA 0.373 NA 20 63 1.02e-10 1.09e-10 1 0 ANK2 287 broad.mit.edu 37 4 114264272 114264272 + Nonsense_Mutation SNP G G T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr4:114264272G>T uc003ibe.3 + 34 4322 c.4222G>T c.(4222-4224)GAA>TAA p.E1408* ANK2_uc003ibd.3_Nonsense_Mutation_p.E1399*|ANK2_uc003ibf.3_Nonsense_Mutation_p.E1408*|ANK2_uc011cgc.1_Nonsense_Mutation_p.E584*|ANK2_uc003ibg.3_Nonsense_Mutation_p.E403*|ANK2_uc003ibh.3_Nonsense_Mutation_p.E82*|ANK2_uc011cgb.1_Nonsense_Mutation_p.E1423* NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1375 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGCCTTCAAAGAAAATAGACT 0.338 NA 42 91 1.57e-19 1.71e-19 1 0 ADAD1 132612 broad.mit.edu 37 4 123305081 123305081 + Silent SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr4:123305081A>G uc003ieo.2 + 5 721 c.489A>G c.(487-489)CTA>CTG p.L163L ADAD1_uc003iep.2_Silent_p.L163L|ADAD1_uc003ieq.2_Silent_p.L145L NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 163 DRBM. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 ATGAGCTTCTACAACTGGATG 0.358 NA 28 84 0 0 0 0 ZDHHC11 79844 broad.mit.edu 37 5 801279 801279 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr5:801279C>T uc011cma.1 - 12 1566 c.1182G>A c.(1180-1182)GGG>GGA p.G394G ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 394 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CTTGTTGCAGCCTGTTTGCAA 0.383 NA 33 174 0 0 0 0 IRX2 153572 broad.mit.edu 37 5 2749083 2749083 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr5:2749083C>T uc003jda.2 - 3 981 c.739G>A c.(739-741)GAC>AAC p.D247N IRX2_uc003jdb.2_Missense_Mutation_p.D247N NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 247 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) CACAGGGGGTCCCCGGCGCGG 0.706 NA 22 118 0 0 0 0 FAM134B 54463 broad.mit.edu 37 5 16616784 16616784 + Silent SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr5:16616784G>A uc003jfs.2 - 1 335 c.297C>T c.(295-297)TTC>TTT p.F99F NM_001034850 NP_001030022 Q9H6L5 F134B_HUMAN hypothetical protein LOC54463 isoform 1 99 Helical; (Potential). sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 TGGCAGCGACGAAGCCGAGCA 0.592 NA 7 31 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576201 33576201 + Silent SNP G G A rs141717162 TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr5:33576201G>A uc003jia.1 - 19 4093 c.3930C>T c.(3928-3930)AAC>AAT p.N1310N ADAMTS12_uc010iuq.1_Silent_p.N1225N NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1310 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AGCCGTGGCCGTTTGTGAGCT 0.468 NA HNSCC(64;0.19) 77 396 0 0 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130840396 130840396 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr5:130840396C>T uc003kvn.1 - 11 1383 c.1177G>A c.(1177-1179)GAG>AAG p.E393K RAPGEF6_uc003kvp.1_Missense_Mutation_p.E443K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E393K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E393K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E393K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E110K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E393K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E393K NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 393 cNMP. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ATTTCTCCCTCTTCCTCAACT 0.413 NA 35 87 0 0 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252398 145252398 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr5:145252398G>A uc003lns.1 - 1 134 c.134C>T c.(133-135)CCA>CTA p.P45L NM_001080516 NP_001073985 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 45 0 TTCCTCCTTTGGTGACTCTAA 0.498 NA 74 108 0 0 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056369 26056369 + Silent SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr6:26056369C>G uc003nfw.2 - 1 331 c.288G>C c.(286-288)ACG>ACC p.T96T NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 96 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 CGGTGCCTTTCGTTTGCACCA 0.532 NA 50 241 0 0 0 0 PGBD1 84547 broad.mit.edu 37 6 28269361 28269361 + Missense_Mutation SNP A A T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr6:28269361A>T uc003nky.2 + 7 2100 c.1730A>T c.(1729-1731)CAG>CTG p.Q577L PGBD1_uc003nkz.2_Missense_Mutation_p.Q577L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 577 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 ACAACCACACAGGGTTATCTG 0.388 NA 87 136 0 0 0 0 TULP1 7287 broad.mit.edu 37 6 35466208 35466208 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr6:35466208C>T uc003okv.3 - 15 1537 c.1525G>A c.(1525-1527)GTG>ATG p.V509M TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.V456M NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 509 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 TCCTCCGCCACGCGGCCGAAC 0.667 NA 10 40 0 0 0 0 AARS2 57505 broad.mit.edu 37 6 44275034 44275034 + Missense_Mutation SNP A A T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr6:44275034A>T uc010jza.1 - 6 995 c.992T>A c.(991-993)CTC>CAC p.L331H SPATS1_uc003oxg.2_RNA|TMEM151B_uc003oxf.2_3'UTR NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 331 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GCAGACACTGAGTGTGCGGAT 0.642 NA 11 23 0 0 0 0 TINAG 27283 broad.mit.edu 37 6 54254654 54254654 + Silent SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr6:54254654A>G uc003pcj.2 + 11 1508 c.1362A>G c.(1360-1362)GTA>GTG p.V454V TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 454 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) TTCGAGGAGTAAATGAGTCCG 0.403 NA 7 274 0 0 0 0 DST 667 broad.mit.edu 37 6 56394429 56394429 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr6:56394429C>T uc003pdf.2 - 60 11083 c.11055G>A c.(11053-11055)GAG>GAA p.E3685E DST_uc003pcz.3_Silent_p.E3507E|DST_uc011dxj.1_Silent_p.E3536E|DST_uc011dxk.1_Silent_p.E3547E|DST_uc003pcy.3_Silent_p.E3181E NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5593 Spectrin 9. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTCTTGAATCTCAATGTACC 0.433 NA 74 215 0 0 0 0 DDX43 55510 broad.mit.edu 37 6 74116174 74116174 + Missense_Mutation SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr6:74116174C>T uc003pgw.2 + 7 1239 c.895C>T c.(895-897)CCT>TCT p.P299S DDX43_uc011dyn.1_RNA NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 299 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 TTATTTAATGCCTGGATTTAT 0.378 NA 33 87 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129674411 129674411 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr6:129674411C>T uc003qbn.2 + 32 4731 c.4626C>T c.(4624-4626)GTC>GTT p.V1542V LAMA2_uc003qbo.2_Silent_p.V1542V NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1542 Laminin EGF-like 17. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTGACCCTGTCACAGGATTCT 0.597 NA 60 73 0 0 0 0 CRHR2 1395 broad.mit.edu 37 7 30704714 30704714 + Missense_Mutation SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr7:30704714A>G uc003tbn.2 - 5 759 c.515T>C c.(514-516)GTT>GCT p.V172A CRHR2_uc010kvw.1_Missense_Mutation_p.V172A|CRHR2_uc010kvx.1_Missense_Mutation_p.V171A|CRHR2_uc010kvy.1_Missense_Mutation_p.V8A|CRHR2_uc003tbo.2_Missense_Mutation_p.V158A|CRHR2_uc003tbp.2_Missense_Mutation_p.V199A NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 172 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 TTCATGGTCAACGAGCTGCAG 0.562 NA 4 99 0 0 0 0 GNAT3 346562 broad.mit.edu 37 7 80091853 80091853 + Missense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr7:80091853C>A uc011kgu.1 - 6 685 c.685G>T c.(685-687)GCC>TCC p.A229S CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 229 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 ATGTCATAGGCACTAAGTGCA 0.398 NA 8 112 2.18e-05 2.26e-05 1 0 PIP 5304 broad.mit.edu 37 7 142836666 142836666 + Silent SNP T T G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr7:142836666T>G uc003wcf.1 + 4 408 c.372T>G c.(370-372)CCT>CCG p.P124P NM_002652 NP_002643 P12273 PIP_HUMAN prolactin-induced protein precursor 124 extracellular region actin binding ovary(1) 1 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) GCATCTGCCCTGATGATGCTG 0.468 NA 104 150 0 0 0 0 HGSNAT 138050 broad.mit.edu 37 8 43046738 43046738 + Missense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr8:43046738C>A uc003xpx.3 + 12 1298 c.1250C>A c.(1249-1251)ACT>AAT p.T417N NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 445 Lumenal, vesicle (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) GGGTGCCCTACGTAAGCGAAC 0.597 NA 38 174 5.78e-17 6.29e-17 1 0 MCM4 4173 broad.mit.edu 37 8 48874211 48874211 + Missense_Mutation SNP T T C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr8:48874211T>C uc003xqk.1 + 3 301 c.206T>C c.(205-207)TTT>TCT p.F69S PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.F69S|MCM4_uc011ldi.1_Missense_Mutation_p.F69S|MCM4_uc010lxw.1_Intron NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 69 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GACGTGCTGTTTTCCAGCCCT 0.557 NA 18 174 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55539813 55539813 + Nonsense_Mutation SNP C C A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr8:55539813C>A uc003xsd.1 + 4 3519 c.3371C>A c.(3370-3372)TCA>TAA p.S1124* RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1124 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATATGTAATTCATCCACTAAT 0.418 NA 39 92 9.89e-21 1.09e-20 1 0 VPS13B 157680 broad.mit.edu 37 8 100533240 100533240 + Splice_Site SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr8:100533240T>A uc003yiv.2 + 30 4931 c.4820_splice c.e30+2 p.Q1607_splice VPS13B_uc003yiw.2_Splice_Site_p.Q1582_splice NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TATTTACCAGTAAGTTTATTT 0.393 NA 70 100 0 0 0 0 MED30 90390 broad.mit.edu 37 8 118552148 118552148 + Silent SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr8:118552148G>A uc003yoj.2 + 4 619 c.468G>A c.(466-468)CTG>CTA p.L156L MED30_uc011lib.1_Silent_p.L121L NM_080651 NP_542382 Q96HR3 MED30_HUMAN TRAP/Mediator complex component TRAP25 156 Potential. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding 0 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) ATCAACAGCTGAAACAAATTA 0.303 NA 18 40 0 0 0 0 RUSC2 9853 broad.mit.edu 37 9 35555657 35555657 + Missense_Mutation SNP G G A rs140042742 byFrequency TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr9:35555657G>A uc003zww.2 + 3 2870 c.2615G>A c.(2614-2616)CGG>CAG p.R872Q RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R872Q NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 872 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AGCCTGGCCCGGGGAGGTGGT 0.632 NA 33 58 0 0 0 0 GDA 9615 broad.mit.edu 37 9 74863197 74863197 + Missense_Mutation SNP G G A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr9:74863197G>A uc004aiq.2 + 14 1487 c.1304G>A c.(1303-1305)CGA>CAA p.R435Q GDA_uc011lse.1_Missense_Mutation_p.R361Q|GDA_uc011lsf.1_Missense_Mutation_p.R361Q|GDA_uc004air.2_Missense_Mutation_p.R435Q|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.R357Q NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 435 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GGAGATGATCGAAATATTGAA 0.403 NA 52 124 0 0 0 0 SETX 23064 broad.mit.edu 37 9 135153533 135153533 + Missense_Mutation SNP C C G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr9:135153533C>G uc004cbk.2 - 21 6949 c.6766G>C c.(6766-6768)GTT>CTT p.V2256L SETX_uc004cbj.2_Missense_Mutation_p.V1875L|SETX_uc010mzt.2_Missense_Mutation_p.V1875L NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2256 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTGTACTGAACAGTGAGCTGT 0.428 NA 58 254 0 0 0 0 C9orf37 85026 broad.mit.edu 37 9 140510521 140510521 + Missense_Mutation SNP A A G TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr9:140510521A>G uc004cnz.2 - 3 715 c.131T>C c.(130-132)ATA>ACA p.I44T EHMT1_uc004coa.2_5'Flank|EHMT1_uc004cob.1_5'Flank|EHMT1_uc011mfc.1_5'Flank NM_032937 NP_116326 Q9H2J1 CI037_HUMAN chromosome 9 open reading frame 37 44 breast(1) 1 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) TACCTTATCTATAAAATGCAC 0.274 NA 11 29 0 0 0 0 PDZD11 51248 broad.mit.edu 37 X 69507978 69507978 + Missense_Mutation SNP A A C TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chrX:69507978A>C uc004dyd.1 - 4 319 c.217T>G c.(217-219)TTC>GTC p.F73V KIF4A_uc004dyg.2_5'Flank|KIF4A_uc010nkw.2_5'Flank|PDZD11_uc004dye.1_Missense_Mutation_p.F105V|KIF4A_uc004dyf.1_5'Flank NM_016484 NP_057568 Q5EBL8 PDZ11_HUMAN PDZ domain containing 11 73 PDZ. basolateral plasma membrane|cytosol|extracellular region protein C-terminus binding 0 TTGGAGATGAAGATGCCTAGC 0.463 NA 15 19 0 0 0 0 SLC6A8 6535 broad.mit.edu 37 X 152956769 152956769 + Silent SNP C C T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chrX:152956769C>T uc004fib.3 + 3 683 c.405C>T c.(403-405)TAC>TAT p.Y135Y SLC6A8_uc004fic.3_Silent_p.Y135Y|SLC6A8_uc011myx.1_Silent_p.Y20Y|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Silent_p.Y20Y NM_005629 NP_005620 P48029 SC6A8_HUMAN solute carrier family 6 member 8 isoform 1 135 Cytoplasmic (Potential). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) GCCTGGGCTACGCCTCCATGG 0.602 NA 3 25 0 0 0 0 LRRC40 55631 broad.mit.edu 37 1 70614215 70614215 + Frame_Shift_Del DEL T T - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr1:70614215delT uc001der.1 - 14 1710 c.1658delA c.(1657-1659)GACfs p.D553fs NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 553 LRR 19. ovary(1) 1 TTGTAAGAGGTCATTATTTTG 0.353 NA 133 279 --- --- --- --- NA NA NA NA SPRYD5 84767 broad.mit.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr11:55653610delA uc010rip.1 + 3 515 c.423delA c.(421-423)CTAfs p.L141fs SPRYD5_uc010riq.1_5'UTR NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 141 intracellular zinc ion binding 0 all_epithelial(135;0.226) AGGAGCTCCTAAAAAAAATGC 0.403 NA 19 82 --- --- --- --- NA NA NA NA ZNF549 256051 broad.mit.edu 37 19 58048899 58048900 + Frame_Shift_Del DEL CT CT - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr19:58048899_58048900delCT uc002qpb.1 + 4 776_777 c.527_528delCT c.(526-528)CCTfs p.P176fs ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Frame_Shift_Del_p.P163fs NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCAAAATTCCTCTGTCAGACA 0.475 NA 27 59 --- --- --- --- NA NA NA NA ZFP36L2 678 broad.mit.edu 37 2 43452301 43452302 + Frame_Shift_Ins INS - - T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr2:43452301_43452302insT uc002rsv.3 - 2 932_933 c.641_642insA c.(640-642)TTCfs p.F214fs LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 214 C3H1-type 2. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CGTTGTGGATGAAGTGGCAGCG 0.559 NA 11 21 --- --- --- --- NA NA NA NA EEF1A2 1917 broad.mit.edu 37 20 62126260 62126264 + Frame_Shift_Del DEL TTCCT TTCCT - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr20:62126260_62126264delTTCCT uc002yfd.1 - 3 616_620 c.515_519delAGGAA c.(514-519)AAGGAAfs p.K172fs EEF1A2_uc002yfe.1_Frame_Shift_Del_p.K172fs|EEF1A2_uc010gkg.1_Frame_Shift_Del_p.K172fs NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 172_173 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) AGGCGCTGACTTCCTTGACGATCTC 0.605 NA 14 147 --- --- --- --- NA NA NA NA TGFBR2 7048 broad.mit.edu 37 3 30691918 30691920 + In_Frame_Del DEL TGA TGA - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:30691918_30691920delTGA uc003ceo.2 + 3 802_804 c.420_422delTGA c.(418-423)TCTGAT>TCT p.D141del TGFBR2_uc003cen.2_In_Frame_Del_p.D166del NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 141 Extracellular (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CCTGTAGCTCTGATGAGTGCAAT 0.419 NA 61 101 --- --- --- --- NA NA NA NA C3orf52 79669 broad.mit.edu 37 3 111812254 111812260 + Frame_Shift_Del DEL AAGATGC AAGATGC - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr3:111812254_111812260delAAGATGC uc003dyq.3 + 2 259_265 c.186_192delAAGATGC c.(184-192)GGAAGATGCfs p.G62fs C3orf52_uc011bhs.1_Frame_Shift_Del_p.G62fs|C3orf52_uc011bht.1_Frame_Shift_Del_p.G62fs NM_024616 NP_078892 Q5BVD1 TTMP_HUMAN TPA-induced transmembrane protein 62_64 endoplasmic reticulum membrane|integral to membrane 0 ATGTGGTTGGAAGATGCAAACTGTGGA 0.435 NA 46 170 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187549454 187549454 + Frame_Shift_Del DEL G G - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr4:187549454delG uc003izf.2 - 9 4852 c.4664delC c.(4663-4665)ACGfs p.T1555fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1555 Extracellular (Potential).|Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTGGTCATTCGTGTCGCTGAC 0.502 NA HNSCC(5;0.00058) 15 24 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187557332 187557333 + Frame_Shift_Ins INS - - A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr4:187557332_187557333insA uc003izf.2 - 6 4217_4218 c.4029_4030insT c.(4027-4032)ATTGAAfs p.I1343fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1343_1344 Extracellular (Potential).|Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GAGATCCATTCAATATGGAGTC 0.441 NA HNSCC(5;0.00058) 35 81 --- --- --- --- NA NA NA NA FAT2 2196 broad.mit.edu 37 5 150924382 150924382 + Frame_Shift_Del DEL A A - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr5:150924382delA uc003lue.3 - 9 6319 c.6306delT c.(6304-6306)AATfs p.N2102fs GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2102 Extracellular (Potential).|Cadherin 18. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAACAGCCCCATTTGTCCCCA 0.428 NA 86 90 --- --- --- --- NA NA NA NA ATAD2 29028 broad.mit.edu 37 8 124384892 124384893 + Frame_Shift_Ins INS - - T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr8:124384892_124384893insT uc003yqh.3 - 3 462_463 c.354_355insA c.(352-357)AAAGAAfs p.K118fs ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Frame_Shift_Ins_p.K118fs NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 118_119 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTGTGCTCTTCTTTTTTTTTAT 0.198 NA 21 260 --- --- --- --- NA NA NA NA C9orf117 286207 broad.mit.edu 37 9 130475482 130475482 + Frame_Shift_Del DEL T T - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chr9:130475482delT uc004brn.1 + 8 1528 c.1488delT c.(1486-1488)CCTfs p.P496fs PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank NM_001012502 NP_001012520 Q5JU67 CI117_HUMAN hypothetical protein LOC286207 496 0 ACAGCAGCCCTGAGGTGAGGG 0.408 NA 34 47 --- --- --- --- NA NA NA NA FAM120C 54954 broad.mit.edu 37 X 54209173 54209190 + In_Frame_Del DEL CAGCGCTGACAAGTAGCC CAGCGCTGACAAGTAGCC - TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 31ffd2d8-ee97-4002-9737-08c044878ace ebb2ea32-6180-4d55-9dbf-740affddc084 g.chrX:54209173_54209190delCAGCGCTGACAAGTAGCC uc004dsz.3 - 1 525_542 c.442_459delGGCTACTTGTCAGCGCTG c.(442-459)GGCTACTTGTCAGCGCTGdel p.GYLSAL148del FAM120C_uc011moh.1_In_Frame_Del_p.GYLSAL148del|FAM120C_uc004dta.2_In_Frame_Del_p.GYLSAL148del NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 148_153 ovary(1)|central_nervous_system(1) 2 AAGCCTGGCACAGCGCTGACAAGTAGCCCAGCATGGCG 0.711 NA 7 18 --- --- --- --- NA NA NA NA