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 PLEKHN1 84069 broad.mit.edu 37 1 906364 906364 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:906364G>A uc001ace.2 + 5 745 c.710G>A c.(709-711)CGC>CAC p.R237H PLEKHN1_uc001acd.2_Missense_Mutation_p.R197H|PLEKHN1_uc001acf.2_Missense_Mutation_p.R197H NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 237 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) GGGCCGCGGCGCTGCCACTCG 0.736 NA 5 10 0 0 0 0 TARDBP 23435 broad.mit.edu 37 1 11082376 11082376 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:11082376G>A uc001art.2 + 6 1044 c.910G>A c.(910-912)GGT>AGT p.G304S TARDBP_uc010oap.1_Missense_Mutation_p.G188S NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 304 Gly-rich. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) AAACAATCAAGGTAGTAATAT 0.498 NA 6 60 0 0 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978886 41978886 + Missense_Mutation SNP T T A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:41978886T>A uc001cgz.3 - 8 7219 c.6006A>T c.(6004-6006)GAA>GAT p.E2002D HIVEP3_uc001cha.3_Missense_Mutation_p.E2002D|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 2002 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGCCTGTGGTTCTCGGGCCG 0.632 NA 30 44 0 0 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050284 42050284 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:42050284G>A uc001cgz.3 - 4 1398 c.185C>T c.(184-186)CCC>CTC p.P62L HIVEP3_uc001cha.3_Missense_Mutation_p.P62L|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 62 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AACTGATGAGGGGCCCGGGAA 0.622 NA 46 76 0 0 0 0 C8B 732 broad.mit.edu 37 1 57422503 57422503 + Silent SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:57422503A>G uc001cyp.2 - 3 397 c.330T>C c.(328-330)TGT>TGC p.C110C C8B_uc010oon.1_Silent_p.C48C|C8B_uc010ooo.1_Silent_p.C58C NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 110 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 TGTTGGTAACACAGTCTTCGA 0.498 NA 28 222 0 0 0 0 LRRC40 55631 broad.mit.edu 37 1 70616847 70616847 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:70616847A>T uc001der.1 - 13 1533 c.1481T>A c.(1480-1482)CTG>CAG p.L494Q NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 494 LRR 16. ovary(1) 1 CAGTCTTACCAGTGATTCCAT 0.284 NA 10 19 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75038758 75038758 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:75038758T>C uc001dgg.2 - 14 2855 c.2636A>G c.(2635-2637)CAA>CGA p.Q879R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 879 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CATCAAGGCTTGCTTTTCAGG 0.527 NA 72 156 0 0 0 0 HFM1 164045 broad.mit.edu 37 1 91859650 91859650 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:91859650C>G uc001doa.3 - 4 594 c.494G>C c.(493-495)AGA>ACA p.R165T HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.R165T NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 165 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) taataattaCCTTTTCCGGAA 0.284 NA 9 10 0 0 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94669495 94669495 + Silent SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:94669495A>G uc001dqj.3 - 8 1122 c.753T>C c.(751-753)ATT>ATC p.I251I ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Silent_p.I251I NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 251 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CCTGAATTCCAATGTTAGTTC 0.338 NA 7 26 0 0 0 0 LPPR4 9890 broad.mit.edu 37 1 99772018 99772018 + Missense_Mutation SNP A A C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:99772018A>C uc001dse.2 + 7 1850 c.1744A>C c.(1744-1746)ATG>CTG p.M582L LPPR4_uc010oue.1_Missense_Mutation_p.M524L NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 582 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGTCATAGCCATGTCCAAGCA 0.537 NA 23 47 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103400075 103400075 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:103400075C>T uc001dul.2 - 46 3848 c.3530G>A c.(3529-3531)GGG>GAG p.G1177E COL11A1_uc001duk.2_Missense_Mutation_p.G373E|COL11A1_uc001dum.2_Missense_Mutation_p.G1189E|COL11A1_uc001dun.2_Missense_Mutation_p.G1138E|COL11A1_uc009weh.2_Missense_Mutation_p.G1061E NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1177 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCCAAACATCCCCTGCTGTCC 0.448 NA 16 49 0 0 0 0 SV2A 9900 broad.mit.edu 37 1 149876628 149876628 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:149876628G>A uc001etg.2 - 13 2658 c.2167C>T c.(2167-2169)CTT>TTT p.L723F SV2A_uc009wlk.2_Missense_Mutation_p.L175F NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 723 Helical; (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CCAAGGGCAAGGGCAGCTGAG 0.602 NA 7 27 0 0 0 0 ARNT 405 broad.mit.edu 37 1 150808901 150808901 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:150808901C>A uc001evr.1 - 7 698 c.555G>T c.(553-555)AGG>AGT p.R185S ARNT_uc001evs.1_Missense_Mutation_p.R170S|ARNT_uc009wmb.1_Missense_Mutation_p.R176S|ARNT_uc009wmc.1_Missense_Mutation_p.R185S|ARNT_uc009wmd.1_Missense_Mutation_p.R170S|ARNT_uc009wme.1_Missense_Mutation_p.R185S|ARNT_uc010pcl.1_Missense_Mutation_p.R169S NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 185 PAS 1. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CATACACCACCCTGCCTGTCT 0.453 NA T ETV6 AML 11 40 3.86e-05 0.00011387 1 0 LASS2 29956 broad.mit.edu 37 1 150941485 150941485 + Nonsense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:150941485G>A uc001evy.2 - 2 469 c.82C>T c.(82-84)CGA>TGA p.R28* LASS2_uc001evz.2_Nonsense_Mutation_p.R28*|LASS2_uc009wmh.2_Intron NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 28 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGTCCATCTCGGTCTTCTAGA 0.527 NA 8 47 0 0 0 0 CD1D 912 broad.mit.edu 37 1 158152775 158152775 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:158152775A>T uc001frr.2 + 5 1214 c.715A>T c.(715-717)ATG>TTG p.M239L CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 239 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GGTGAAGTGGATGCGGGGTGA 0.627 NA 10 133 0 0 0 0 CD84 8832 broad.mit.edu 37 1 160520798 160520798 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:160520798G>C uc001fwh.3 - 6 863 c.839C>G c.(838-840)ACA>AGA p.T280R CD84_uc001fwf.3_Missense_Mutation_p.T263R|CD84_uc001fwg.3_Missense_Mutation_p.T274R|CD84_uc009wtn.2_Intron|CD84_uc001fwi.3_Missense_Mutation_p.T149R NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 280 Cytoplasmic (Potential).|ITSM motif 1. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CATGATATATGTGTATATGGT 0.383 NA 20 318 0 0 0 0 RXRG 6258 broad.mit.edu 37 1 165398200 165398200 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:165398200G>A uc001gda.2 - 2 353 c.53C>T c.(52-54)TCC>TTC p.S18F NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 18 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GTGGCCAGGGGAGCCTGTAAG 0.567 NA 18 22 0 0 0 0 LGR6 59352 broad.mit.edu 37 1 202287594 202287594 + Silent SNP G G A rs140182035 TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:202287594G>A uc001gxu.2 + 18 2163 c.2163G>A c.(2161-2163)GCG>GCA p.A721A LGR6_uc001gxv.2_Silent_p.A669A|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.A582A NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 721 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 TGCCCTACGCGCCACCTGAGG 0.667 NA 10 33 0 0 0 0 PPFIA4 8497 broad.mit.edu 37 1 203008176 203008176 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:203008176C>T uc009xaj.2 + 6 481 c.481C>T c.(481-483)CTG>TTG p.L161L O75335 LIPA4_HUMAN SubName: Full=Liprin alpha4; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 GGGGGACCGCCTGGGTCCCCC 0.622 NA OREG0014109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 11 0 0 0 0 TMCC2 9911 broad.mit.edu 37 1 205238351 205238351 + Nonsense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:205238351C>T uc001hbz.1 + 4 1465 c.1021C>T c.(1021-1023)CAG>TAG p.Q341* TMCC2_uc010prf.1_Nonsense_Mutation_p.Q263*|TMCC2_uc001hca.2_Nonsense_Mutation_p.Q116*|TMCC2_uc001hcb.1_Nonsense_Mutation_p.Q101*|TMCC2_uc001hcc.1_5'UTR|TMCC2_uc001hcd.2_Nonsense_Mutation_p.Q108* NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 341 Potential. integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GAAGAAGAACCAGAAGTCAGC 0.592 NA 4 45 0 0 0 0 IL19 29949 broad.mit.edu 37 1 206972269 206972269 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:206972269A>T uc001heo.2 + 1 55 c.30A>T c.(28-30)AGA>AGT p.R10S NM_153758 NP_715639 Q9UHD0 IL19_HUMAN interleukin 19 isoform 1 precursor Error:Variant_position_missing_in_Q9UHD0_after_alignment apoptosis|immune response|signal transduction extracellular space cytokine activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(75;0.211) TTCCGCACAGATCTGCGTGTT 0.478 NA 34 80 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235904812 235904812 + Silent SNP G G A rs141534829 byFrequency TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:235904812G>A uc001hxj.2 - 31 8443 c.8268C>T c.(8266-8268)CAC>CAT p.H2756H LYST_uc009xga.1_Silent_p.H392H NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2756 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTTGTGCAGCGTGGGCTGGCG 0.438 NA Chediak-Higashi_syndrome 6 94 0 0 0 0 HEATR1 55127 broad.mit.edu 37 1 236714247 236714247 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:236714247C>T uc001hyd.1 - 45 6515 c.6390G>A c.(6388-6390)CAG>CAA p.Q2130Q HEATR1_uc009xgh.1_Silent_p.Q1292Q NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 2130 HEAT. rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTTCCAGTTGCTGAATAGTCT 0.368 NA 30 38 0 0 0 0 MLLT10 8028 broad.mit.edu 37 10 22021981 22021981 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:22021981C>T uc001iqs.2 + 19 2768 c.2420C>T c.(2419-2421)CCG>CTG p.P807L MLLT10_uc001iqt.2_Missense_Mutation_p.P791L|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.P791L|MLLT10_uc001ira.2_Missense_Mutation_p.P248L|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 807 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 AATCCTAGTCCGTCTCATCAA 0.338 NA T MLL|PICALM|CDK6 AL 7 67 0 0 0 0 RASSF4 83937 broad.mit.edu 37 10 45484754 45484754 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:45484754G>A uc001jbo.2 + 7 698 c.564G>A c.(562-564)GTG>GTA p.V188V RASSF4_uc001jbp.2_Silent_p.V219V|RASSF4_uc009xmn.2_Silent_p.V118V|RASSF4_uc001jbq.2_Silent_p.V85V|RASSF4_uc001jbt.2_Silent_p.V145V NM_032023 NP_114412 Q9H2L5 RASF4_HUMAN Ras association domain family 4 188 Ras-associating. cell cycle|signal transduction protein binding large_intestine(1) 1 ATGGATCCGTGACCAATGTGA 0.562 NA 11 31 0 0 0 0 MYPN 84665 broad.mit.edu 37 10 69925475 69925475 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:69925475G>A uc001jnm.3 + 10 1685 c.1500G>A c.(1498-1500)TTG>TTA p.L500L MYPN_uc001jnl.1_Silent_p.L500L|MYPN_uc001jnn.3_Silent_p.L225L|MYPN_uc001jno.3_Silent_p.L500L|MYPN_uc009xps.2_Silent_p.L500L|MYPN_uc009xpt.2_Silent_p.L500L|MYPN_uc010qit.1_Silent_p.L206L|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 500 Interaction with CARP.|Ig-like 2. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TTTGCACCTTGGTCATTGCTG 0.413 NA 5 44 0 0 0 0 RUFY2 55680 broad.mit.edu 37 10 70139220 70139220 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:70139220G>C uc001job.2 - 12 1598 c.1271C>G c.(1270-1272)ACC>AGC p.T424S RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Missense_Mutation_p.T355S|RUFY2_uc010qiw.1_Missense_Mutation_p.T331S|RUFY2_uc001jod.1_Missense_Mutation_p.T389S NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 438 Potential. nucleus metal ion binding ovary(1) 1 AATTTTATTGGTTTTTTCTTC 0.274 NA 8 64 0 0 0 0 TTC18 118491 broad.mit.edu 37 10 75059376 75059376 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:75059376C>T uc009xrc.2 - 14 1635 c.1514G>A c.(1513-1515)GGA>GAA p.G505E TTC18_uc001jty.2_Missense_Mutation_p.G505E|TTC18_uc009xrd.1_Missense_Mutation_p.G319E|TTC18_uc001jtx.2_5'Flank NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 505 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) CTGAGCTCCTCCTGTCCGACG 0.353 NA 14 27 0 0 0 0 AGAP5 729092 broad.mit.edu 37 10 75457405 75457405 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:75457405C>A uc009xri.2 - 1 150 c.109G>T c.(109-111)GGG>TGG p.G37W AGAP5_uc001juu.3_5'UTR NM_001144000 NP_001137472 A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 37 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 ATCCTGTCCCCAGCTCCTGCC 0.582 NA 8 151 0.00307968 0.00876174 1 0 BTRC 8945 broad.mit.edu 37 10 103291078 103291078 + Silent SNP A A T rs146435684 TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:103291078A>T uc001kta.2 + 7 941 c.828A>T c.(826-828)ATA>ATT p.I276I BTRC_uc001ktb.2_Silent_p.I240I|BTRC_uc001ktc.2_Silent_p.I250I NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 276 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CTAAAATTATACAAGACATTG 0.368 NA 24 50 0 0 0 0 POLL 27343 broad.mit.edu 37 10 103343337 103343337 + Silent SNP G G A rs148400497 byFrequency TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:103343337G>A uc001ktg.1 - 5 1759 c.993C>T c.(991-993)AGC>AGT p.S331S DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_Silent_p.S23S|POLL_uc001kth.1_Silent_p.S56S|POLL_uc001kti.1_Silent_p.S331S|POLL_uc001ktj.1_Silent_p.S331S|POLL_uc001ktf.2_Silent_p.S239S|POLL_uc001ktk.1_Silent_p.S70S|POLL_uc010qqa.1_Silent_p.S70S|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Silent_p.S331S|POLL_uc001ktl.2_Silent_p.S243S|POLL_uc010qqc.1_Silent_p.S23S|POLL_uc010qqd.1_3'UTR NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 331 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AGACAGGCACGCTCTCACTGA 0.562 NA DNA_polymerases_(catalytic_subunits) 15 29 0 0 0 0 C10orf81 79949 broad.mit.edu 37 10 115534710 115534710 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:115534710C>A uc001lat.1 + 9 1449 c.887C>A c.(886-888)TCC>TAC p.S296Y C10orf81_uc001lar.1_Missense_Mutation_p.S302Y|C10orf81_uc009xyc.1_Missense_Mutation_p.S214Y|C10orf81_uc001las.1_Missense_Mutation_p.S214Y|C10orf81_uc001lau.1_Missense_Mutation_p.S116Y NM_024889 NP_079165 Q5SXH7 CJ081_HUMAN hypothetical protein LOC79949 296 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) TGGTGTCTTTCCCCTGCCGAT 0.488 NA 12 28 0.00010058 0.000294856 1 0 GRK5 2869 broad.mit.edu 37 10 121182709 121182709 + Missense_Mutation SNP A A C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:121182709A>C uc001led.2 + 5 604 c.371A>C c.(370-372)GAC>GCC p.D124A GRK5_uc009xzh.2_Missense_Mutation_p.D19A|GRK5_uc010qta.1_Missense_Mutation_p.D19A NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 124 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) GTTGGCCAAGACCTGGTCTCC 0.582 NA 51 152 0 0 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122280508 122280508 + Missense_Mutation SNP T T A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:122280508T>A uc001lev.1 + 5 698 c.346T>A c.(346-348)TGC>AGC p.C116S PPAPDC1A_uc010qtd.1_Missense_Mutation_p.C116S|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Intron NM_001030059 NP_001025230 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain 116 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1) 1 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) CTTTTACCGCTGCTTTCCAGA 0.512 NA 21 57 0 0 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T A rs121913233 TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:533874T>A uc001lpv.2 - 3 370 c.182A>T c.(181-183)CAG>CTG p.Q61L HRAS_uc010qvw.1_Missense_Mutation_p.Q61L|HRAS_uc010qvx.1_Missense_Mutation_p.Q61L|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines. activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(112)|p.Q61L(93)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(NCIH1915_LUNG)|Q61L(KYSE30_OESOPHAGUS) 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 22 55 0 0 0 0 EPS8L2 64787 broad.mit.edu 37 11 720677 720677 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:720677G>A uc001lqt.2 + 6 655 c.408G>A c.(406-408)CTG>CTA p.L136L EPS8L2_uc010qwj.1_Silent_p.L152L|EPS8L2_uc001lqu.2_Silent_p.L136L|EPS8L2_uc010qwk.1_Silent_p.L152L|EPS8L2_uc001lqv.2_Silent_p.L91L|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 136 PID. cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGTCTGTGCTGCTGCTCGTGT 0.582 NA 5 7 0 0 0 0 EIF3M 10480 broad.mit.edu 37 11 32615476 32615476 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:32615476G>T uc001mtu.2 + 6 641 c.598G>T c.(598-600)GCT>TCT p.A200S EIF3M_uc010ref.1_Missense_Mutation_p.A68S NM_006360 NP_006351 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, 200 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1)|breast(1)|skin(1) 3 Breast(20;0.109) TGCTTCCCAGGCTCGAGTTGA 0.393 NA 13 25 0.000219431 0.000638421 1 0 C11orf84 144097 broad.mit.edu 37 11 63585325 63585325 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:63585325C>A uc001nxt.2 + 2 412 c.176C>A c.(175-177)GCA>GAA p.A59E NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 59 0 CCGCTAGAGGCAGGCAGTGAT 0.637 NA 4 12 2.56e-06 7.76e-06 1 0 KRTAP5-10 387273 broad.mit.edu 37 11 71277066 71277066 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:71277066T>C uc001oqt.1 + 1 458 c.433T>C c.(433-435)TGT>CGT p.C145R NM_001012710 NP_001012728 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 145 3.|7 X 4 AA repeats of C-C-X-P. keratin filament skin(1) 1 GTGCAATTGCTGTAAGCCctg 0.348 NA 47 102 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92532912 92532912 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:92532912C>T uc001pdj.3 + 9 6750 c.6733C>T c.(6733-6735)CCT>TCT p.P2245S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2245 Cadherin 20.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTTGTTAGCCCTTTGGATTA 0.438 NA TCGA Ovarian(4;0.039) 7 16 0 0 0 0 HEPHL1 341208 broad.mit.edu 37 11 93806191 93806191 + Missense_Mutation SNP T T G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:93806191T>G uc001pep.2 + 7 1390 c.1233T>G c.(1231-1233)AGT>AGG p.S411R uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 411 Plastocyanin-like 3.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GTCTTTTCAGTGACTCTGATC 0.368 NA 8 21 0 0 0 0 CADM1 23705 broad.mit.edu 37 11 115102137 115102137 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:115102137G>A uc001ppi.3 - 4 627 c.498C>T c.(496-498)TGC>TGT p.C166C CADM1_uc001ppf.3_Silent_p.C166C|CADM1_uc001ppk.3_Silent_p.C166C|CADM1_uc001ppj.3_Silent_p.C166C|CADM1_uc001ppl.2_Silent_p.C166C NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 166 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) CCATAGCAGTGCAGTTGACTT 0.458 NA 29 56 0 0 0 0 BSX 390259 broad.mit.edu 37 11 122852272 122852272 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:122852272C>T uc010rzs.1 - 1 108 c.108G>A c.(106-108)GTG>GTA p.V36V NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 36 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GGTCTGGGGCCACCTCTCTCA 0.612 NA 3 4 0 0 0 0 OR6T1 219874 broad.mit.edu 37 11 123814471 123814471 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:123814471G>T uc010sab.1 - 1 75 c.75C>A c.(73-75)TTC>TTA p.F25L NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GGAACACCAGGAACTGTATGA 0.488 NA 36 74 5.44e-19 1.81e-18 1 0 B4GALNT3 283358 broad.mit.edu 37 12 666883 666883 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:666883G>A uc001qii.1 + 16 2490 c.2490G>A c.(2488-2490)GAG>GAA p.E830E B4GALNT3_uc001qik.1_Silent_p.E379E NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 830 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) ATAGCAGTGAGGACATGGATG 0.522 NA 14 21 0 0 0 0 SOX5 6660 broad.mit.edu 37 12 23999030 23999030 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:23999030G>A uc001rfw.2 - 3 470 c.368C>T c.(367-369)TCC>TTC p.S123F SOX5_uc001rfx.2_Missense_Mutation_p.S110F|SOX5_uc001rfy.2_Missense_Mutation_p.S110F|SOX5_uc010siv.1_Missense_Mutation_p.S110F|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.S75F|SOX5_uc001rga.2_Missense_Mutation_p.S88F NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 123 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 ACTAGACAAGGACTCGCCACT 0.493 NA 33 53 0 0 0 0 FAR2 55711 broad.mit.edu 37 12 29469874 29469874 + Nonsense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:29469874G>A uc001ris.3 + 9 1203 c.1056G>A c.(1054-1056)TGG>TGA p.W352* FAR2_uc001rit.2_Nonsense_Mutation_p.W352*|FAR2_uc009zjm.2_Nonsense_Mutation_p.W255*|uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 352 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 CACAGTACTGGAATGCGGTCA 0.498 NA 17 215 0 0 0 0 LRRK2 120892 broad.mit.edu 37 12 40748281 40748281 + Missense_Mutation SNP T T A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:40748281T>A uc001rmg.3 + 45 6878 c.6757T>A c.(6757-6759)TTT>ATT p.F2253I LRRK2_uc009zjw.2_Missense_Mutation_p.F1091I|LRRK2_uc001rmi.2_Missense_Mutation_p.F1086I NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2253 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTGCAATTCCTTTTCCAAGCA 0.373 NA 8 20 0 0 0 0 OR8S1 341568 broad.mit.edu 37 12 48920192 48920192 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:48920192C>G uc010slu.1 + 1 778 c.778C>G c.(778-780)CTC>GTC p.L260V NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCTCCGCCATCTCATGCCAAA 0.498 NA 22 49 0 0 0 0 HOXC9 3225 broad.mit.edu 37 12 54396248 54396248 + Silent SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:54396248C>A uc001sep.2 + 3 671 c.573C>A c.(571-573)TCC>TCA p.S191S HOXC9_uc001seq.2_Silent_p.S191S NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 191 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 ACGCCCGCTCCACGAGGAAGA 0.567 NA 6 109 5.18e-06 1.56e-05 1 0 CDK4 1019 broad.mit.edu 37 12 58142978 58142978 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:58142978G>A uc001spv.2 - 7 1033 c.806C>T c.(805-807)GCA>GTA p.A269V CDK4_uc010ssb.1_Missense_Mutation_p.A149V|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank NM_000075 NP_000066 P11802 CDK4_HUMAN cyclin-dependent kinase 4 269 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1)|breast(1)|central_nervous_system(1) 3 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CAGCAGCTGTGCTCCCGACTC 0.602 NA Mis melanoma Hereditary_Melanoma 18 74 0 0 0 0 GLIPR1 11010 broad.mit.edu 37 12 75889388 75889388 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:75889388G>A uc001sxs.2 + 4 713 c.565G>A c.(565-567)GGA>AGA p.G189R GLIPR1_uc009zsb.1_Silent_p.E212E NM_006851 NP_006842 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 precursor 189 cellular lipid metabolic process extracellular region|integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 ATATAAGAGAGGAGCCACCTG 0.378 NA 3 24 0 0 0 0 C12orf12 196477 broad.mit.edu 37 12 91348312 91348312 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:91348312G>T uc001tbj.2 - 1 642 c.208C>A c.(208-210)CAG>AAG p.Q70K NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 70 central_nervous_system(1)|pancreas(1) 2 GGGCCGTGCTGTTGCTTCGGC 0.642 NA 12 16 1.09e-07 3.34e-07 1 0 TMEM132B 114795 broad.mit.edu 37 12 126138423 126138424 + Missense_Mutation DNP GA GA TG TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr12:126138423_126138424GA>TG uc001uhe.1 + 9 2412_2413 c.2404_2405GA>TG c.(2404-2406)GAT>TGT p.D802C TMEM132B_uc001uhf.1_Missense_Mutation_p.D314C NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 802 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGGCAGCAATGATATTGAGGGC 0.475 NA 6 57 0 0 0 0 N6AMT2 221143 broad.mit.edu 37 13 21331600 21331600 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr13:21331600C>T uc001uno.1 - 2 219 c.138G>A c.(136-138)GAG>GAA p.E46E N6AMT2_uc009zzr.1_Silent_p.E46E|N6AMT2_uc001unp.2_RNA NM_174928 NP_777588 Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 46 methyltransferase activity|nucleic acid binding 0 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTACCCAATTCTCTTCTATTA 0.418 NA 23 57 0 0 0 0 STARD13 90627 broad.mit.edu 37 13 33703125 33703125 + Silent SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr13:33703125A>G uc001uuw.2 - 5 1815 c.1689T>C c.(1687-1689)CCT>CCC p.P563P STARD13_uc001uuu.2_Silent_p.P555P|STARD13_uc001uuv.2_Silent_p.P445P|STARD13_uc001uux.2_Silent_p.P528P|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.P548P NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 563 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TGACCCCAGGAGGCTCAGATT 0.473 NA 18 32 0 0 0 0 LRCH1 23143 broad.mit.edu 37 13 47315858 47315859 + Missense_Mutation DNP GG GG TT TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr13:47315858_47315859GG>TT uc001vbj.2 + 19 2298_2299 c.2062_2063GG>TT c.(2062-2064)GGG>TTG p.G688L LRCH1_uc001vbk.2_Missense_Mutation_p.G723L|LRCH1_uc001vbl.3_Intron NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 688 CH. ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GCTGGCACTCGGGGAGAAAGCC 0.515 NA 8 419 0 0 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368987 86368987 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr13:86368987C>T uc001vll.1 - 2 2116 c.1657G>A c.(1657-1659)GAC>AAC p.D553N SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 553 LRRCT 2.|Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TCCTTTTTGTCGAGATGCCCG 0.458 NA 11 54 0 0 0 0 OXGR1 27199 broad.mit.edu 37 13 97639754 97639754 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr13:97639754G>T uc001vmx.1 - 4 504 c.260C>A c.(259-261)CCC>CAC p.P87H OXGR1_uc010afr.1_Missense_Mutation_p.P87H NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 87 Helical; Name=2; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) AATCAGGAAGGGGAGGCTGGT 0.453 NA 10 16 2.18e-05 6.49e-05 1 0 OR4K5 79317 broad.mit.edu 37 14 20389043 20389043 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr14:20389043C>A uc010tkw.1 + 1 278 c.278C>A c.(277-279)TCT>TAT p.S93Y NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAGACCATATCTTTCAGTGGC 0.418 NA 57 295 9e-20 3e-19 1 0 NOVA1 4857 broad.mit.edu 37 14 26918046 26918046 + Missense_Mutation SNP T T A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr14:26918046T>A uc001wpy.2 - 5 961 c.643A>T c.(643-645)AAC>TAC p.N215Y NOVA1_uc001wpz.2_Missense_Mutation_p.N191Y|NOVA1_uc001wqa.2_Missense_Mutation_p.N93Y NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 218 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) TCTTGCAAGTTGATCCCATCA 0.488 NA 43 76 0 0 0 0 BAZ1A 11177 broad.mit.edu 37 14 35245154 35245154 + Missense_Mutation SNP C C T rs116485187 by1000genomes TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr14:35245154C>T uc001wsk.2 - 18 3372 c.2804G>A c.(2803-2805)CGT>CAT p.R935H BAZ1A_uc001wsl.2_Missense_Mutation_p.R903H NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 935 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTCAGAAAAACGGGCTAGCTG 0.353 NA 10 29 0 0 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633784 70633784 + Silent SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr14:70633784C>A uc001xly.2 - 2 2110 c.1356G>T c.(1354-1356)ACG>ACT p.T452T SLC8A3_uc001xlw.2_Silent_p.T452T|SLC8A3_uc001xlx.2_Silent_p.T452T|SLC8A3_uc001xlz.2_Silent_p.T452T|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 452 Calx-beta 1.|Cytoplasmic (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) TCAGAACCACCGTGCCCTCTG 0.488 NA 45 106 1.75e-18 5.81e-18 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634902 70634902 + Missense_Mutation SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr14:70634902A>G uc001xly.2 - 2 992 c.238T>C c.(238-240)TAT>CAT p.Y80H SLC8A3_uc001xlw.2_Missense_Mutation_p.Y80H|SLC8A3_uc001xlx.2_Missense_Mutation_p.Y80H|SLC8A3_uc001xlz.2_Missense_Mutation_p.Y80H|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 80 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) GCCACAAAATAGACAATGACC 0.522 NA 12 24 0 0 0 0 PTPN21 11099 broad.mit.edu 37 14 88940131 88940131 + Nonsense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr14:88940131G>A uc001xwv.3 - 14 2858 c.2527C>T c.(2527-2529)CGA>TGA p.R843* PTPN21_uc010twc.1_Nonsense_Mutation_p.R639* NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 843 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 GCATCTACTCGAGTCTTTTTC 0.398 NA 5 41 0 0 0 0 TECPR2 9895 broad.mit.edu 37 14 102900897 102900897 + Silent SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr14:102900897G>T uc001ylw.1 + 9 1891 c.1743G>T c.(1741-1743)CTG>CTT p.L581L TECPR2_uc010awl.2_Silent_p.L581L|TECPR2_uc010txx.1_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 581 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 GGCGGGAGCTGCTCAATGGAG 0.532 NA 11 30 1.59e-06 4.83e-06 1 0 SNURF 8926 broad.mit.edu 37 15 25213157 25213157 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:25213157C>T uc001ywu.2 + 3 315 c.189C>T c.(187-189)TTC>TTT p.F63F SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywv.1_5'UTR|SNRPN_uc001yww.1_5'UTR|SNRPN_uc001ywx.1_5'UTR|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_RNA|SNRPN_uc001ywy.1_Silent_p.F63F NM_022804 NP_073715 Q9Y675 SNURF_HUMAN SNRPN upstream reading frame protein 63 nucleus 0 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) GGCAGGCATTCTTAGCTGAGA 0.468 NA 4 60 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 25959362 25959362 + Silent SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:25959362G>T uc010ayu.2 - 10 1909 c.1803C>A c.(1801-1803)TCC>TCA p.S601S NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 601 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCTTCACCGGGGACTTCAGCT 0.607 NA 16 31 6.32e-08 1.96e-07 1 0 TJP1 7082 broad.mit.edu 37 15 30003119 30003119 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:30003119G>C uc001zcr.2 - 24 4763 c.4288C>G c.(4288-4290)CCA>GCA p.P1430A TJP1_uc010azl.2_Missense_Mutation_p.P1418A|TJP1_uc001zcq.2_Missense_Mutation_p.P1354A|TJP1_uc001zcs.2_Missense_Mutation_p.P1350A NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1430 Poly-Pro. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GAGGGCAATGGAGGAGGAGGG 0.532 NA 76 109 0 0 0 0 TJP1 7082 broad.mit.edu 37 15 30033539 30033539 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:30033539G>A uc001zcr.2 - 10 1727 c.1252C>T c.(1252-1254)CTT>TTT p.L418F TJP1_uc010azl.2_Missense_Mutation_p.L406F|TJP1_uc001zcq.2_Missense_Mutation_p.L422F|TJP1_uc001zcs.2_Missense_Mutation_p.L418F NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 418 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TATTACCGAAGAATCCCATCT 0.338 NA 19 23 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42107957 42107957 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:42107957G>C uc001zok.3 + 13 1757 c.1471G>C c.(1471-1473)GGA>CGA p.G491R MAPKBP1_uc001zoj.3_Missense_Mutation_p.G485R|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.G485R|MAPKBP1_uc010udb.1_Missense_Mutation_p.G324R|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 491 WD 7. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CAGCCCCAATGGACAGCATCT 0.592 NA 10 26 0 0 0 0 USP8 9101 broad.mit.edu 37 15 50788056 50788056 + Silent SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:50788056G>C uc001zym.3 + 18 3170 c.2670G>C c.(2668-2670)CGG>CGC p.R890R USP8_uc001zyl.3_Silent_p.R890R|USP8_uc001zyn.3_Silent_p.R890R|USP8_uc010ufh.1_Silent_p.R784R|uc001zyo.1_5'Flank|USP8_uc001zyp.3_Silent_p.R57R NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 890 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CTGATAATCGGAAGAGATATA 0.318 NA 6 16 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85399896 85399896 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:85399896G>T uc002ble.2 + 6 2700 c.2533G>T c.(2533-2535)GCT>TCT p.A845S NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 845 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCAGGTGGATGCTGGGACACA 0.547 NA 9 26 5.49e-09 1.73e-08 1 0 MAN2A2 4122 broad.mit.edu 37 15 91455444 91455444 + Missense_Mutation SNP A A C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:91455444A>C uc010bnz.2 + 15 2396 c.2281A>C c.(2281-2283)AGC>CGC p.S761R MAN2A2_uc002bqc.2_Missense_Mutation_p.S761R|MAN2A2_uc010uql.1_Missense_Mutation_p.S423R|MAN2A2_uc010uqm.1_Missense_Mutation_p.S340R|MAN2A2_uc010uqn.1_RNA NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 761 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTCTGGCACCAGCGACTTCGC 0.637 NA 30 66 0 0 0 0 PHKB 5257 broad.mit.edu 37 16 47627442 47627442 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr16:47627442T>C uc002eev.3 + 11 1152 c.1100T>C c.(1099-1101)ATA>ACA p.I367T PHKB_uc002eeu.3_Missense_Mutation_p.I360T NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 367 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) GAATTTCCCATATTTTTCCTT 0.229 NA 10 18 0 0 0 0 CES2 8824 broad.mit.edu 37 16 66976677 66976677 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr16:66976677G>A uc002eqr.2 + 10 2601 c.1601G>A c.(1600-1602)GGG>GAG p.G534E CES2_uc002eqq.2_Intron|CES2_uc002eqs.2_Missense_Mutation_p.G377E NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 470 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) AGTTTCTTTGGGGGCAACTAC 0.473 NA 8 47 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10318656 10318656 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:10318656C>G uc002gmm.2 - 8 789 c.694G>C c.(694-696)GCC>CCC p.A232P uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 232 Myosin head-like. 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 TTGCCAAAGGCCTCCAGTAGG 0.502 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 28 75 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11573072 11573072 + Missense_Mutation SNP T T G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:11573072T>G uc002gne.2 + 17 3382 c.3314T>G c.(3313-3315)CTC>CGC p.L1105R DNAH9_uc010coo.2_Missense_Mutation_p.L399R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1105 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGTGGAGCCTCCTGTTCAAA 0.453 NA 40 95 0 0 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319765 21319765 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:21319765A>T uc002gyv.1 + 3 1816 c.1111A>T c.(1111-1113)AGC>TGC p.S371C NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 371 Cytoplasmic (By similarity). S -> R (in Ref. 2; AAC50615). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CCTGCTGCCCAGCGCCAACTC 0.607 NA Prostate(3;0.18) 5 84 0 0 0 0 ERBB2 2064 broad.mit.edu 37 17 37881982 37881982 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:37881982G>A uc002hso.2 + 23 2986 c.2748G>A c.(2746-2748)ATG>ATA p.M916I ERBB2_uc002hsm.2_Missense_Mutation_p.M886I|ERBB2_uc010cwa.2_Missense_Mutation_p.M901I|ERBB2_uc002hsp.2_Missense_Mutation_p.M719I|ERBB2_uc010cwb.2_Missense_Mutation_p.M916I|ERBB2_uc010wek.1_Missense_Mutation_p.M640I NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 916 Cytoplasmic (Potential).|Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GGGAGCTGATGACTTTTGGGG 0.602 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 6 64 0 0 0 0 BRCA1 672 broad.mit.edu 37 17 41222997 41222997 + Missense_Mutation SNP C C A rs80357653 TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:41222997C>A uc002icq.2 - 15 5166 c.4934G>T c.(4933-4935)AGG>ATG p.R1645M BRCA1_uc010whp.1_Missense_Mutation_p.R494M|BRCA1_uc010whl.1_Missense_Mutation_p.R541M|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R1574M|BRCA1_uc002icu.2_Missense_Mutation_p.R541M|BRCA1_uc010cyx.2_Missense_Mutation_p.R1598M|BRCA1_uc002ict.2_Missense_Mutation_p.R1666M|BRCA1_uc010whn.1_Missense_Mutation_p.R136M|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.R374M|BRCA1_uc002idc.1_Missense_Mutation_p.R541M|BRCA1_uc010whr.1_Missense_Mutation_p.R495M NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1645 BRCT 1. androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TTTGTTGACCCTTTCTGTTGA 0.443 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 59 64 3e-23 1.01e-22 1 0 ASB16 92591 broad.mit.edu 37 17 42248236 42248236 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:42248236G>C uc002ifl.1 + 1 163 c.79G>C c.(79-81)GAC>CAC p.D27H ASB16_uc002ifm.1_RNA NM_080863 NP_543139 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box-containing protein 27 intracellular signal transduction protein binding kidney(2) 2 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GGAATGGGAGGACCGGCGGCG 0.697 NA 10 45 0 0 0 0 SKAP1 8631 broad.mit.edu 37 17 46239901 46239901 + Nonsense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:46239901C>T uc002ini.1 - 11 1020 c.908G>A c.(907-909)TGG>TAG p.W303* SKAP1_uc002inj.1_Nonsense_Mutation_p.W302*|SKAP1_uc010dbd.1_Nonsense_Mutation_p.W208*|SKAP1_uc010dbe.1_Nonsense_Mutation_p.W303* NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 303 SH3. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 ATGGCAATCCCATAGGCCCTG 0.463 NA 12 70 0 0 0 0 HOXB2 3212 broad.mit.edu 37 17 46620658 46620658 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:46620658C>T uc002inm.2 - 2 963 c.843G>A c.(841-843)GGG>GGA p.G281G NM_002145 NP_002136 P14652 HXB2_HUMAN homeobox B2 281 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCCGCCGGCCCCGCGCAGCG 0.711 NA 9 48 0 0 0 0 CA10 56934 broad.mit.edu 37 17 49726560 49726560 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:49726560G>C uc002itw.3 - 6 1603 c.617C>G c.(616-618)ACA>AGA p.T206R CA10_uc002itu.3_Missense_Mutation_p.T135R|CA10_uc002itv.3_Missense_Mutation_p.T212R|CA10_uc002itx.3_Missense_Mutation_p.T206R|CA10_uc002ity.3_Missense_Mutation_p.T206R|CA10_uc002itz.2_Missense_Mutation_p.T206R NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 206 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TGTTATTCTTGTGATAGTATC 0.284 NA 5 62 0 0 0 0 SCPEP1 59342 broad.mit.edu 37 17 55072947 55072947 + Missense_Mutation SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:55072947A>G uc002iuv.3 + 8 790 c.737A>G c.(736-738)TAC>TGC p.Y246C SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.Y196C NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 246 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) AAGGGGCTCTACAGAGAGGCC 0.498 NA 6 118 0 0 0 0 TTYH2 94015 broad.mit.edu 37 17 72233624 72233624 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:72233624C>T uc002jkc.2 + 4 637 c.606C>T c.(604-606)TCC>TCT p.S202S TTYH2_uc010wqw.1_Silent_p.S181S NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 202 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 CCAAGCTATCCGACCAGACTG 0.572 NA 7 64 0 0 0 0 DNAI2 64446 broad.mit.edu 37 17 72285736 72285736 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:72285736C>T uc002jkf.2 + 5 570 c.471C>T c.(469-471)GAC>GAT p.D157D DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 157 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CCTGCAGGGACCCCCAGGAAA 0.483 NA Kartagener_syndrome 22 34 0 0 0 0 CCDC40 55036 broad.mit.edu 37 17 78055742 78055742 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:78055742G>T uc010dht.2 + 12 1901 c.1874G>T c.(1873-1875)AGG>ATG p.R625M CCDC40_uc002jxm.3_Missense_Mutation_p.R408M|CCDC40_uc002jxn.3_Missense_Mutation_p.R21M NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 625 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CTGGAGCTCAGGAGGAAGACG 0.577 NA 9 36 3.1e-07 9.46e-07 1 0 EPB41L3 23136 broad.mit.edu 37 18 5415995 5415995 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr18:5415995G>A uc002kmt.1 - 13 1975 c.1889C>T c.(1888-1890)CCG>CTG p.P630L EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 630 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CACAAGGGACGGTGAGCGGAT 0.542 NA 18 59 0 0 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14797798 14797798 + Silent SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr18:14797798A>G uc010dlo.2 + 20 2154 c.1974A>G c.(1972-1974)AAA>AAG p.K658K ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 658 ovary(1)|skin(1) 2 GTGGAAGGAAAGTTTCTCTTC 0.279 NA 2 1 0 0 0 0 NOL4 8715 broad.mit.edu 37 18 31432903 31432903 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr18:31432903T>C uc010dmi.2 - 11 2049 c.1820A>G c.(1819-1821)AAT>AGT p.N607S NOL4_uc010xbs.1_Missense_Mutation_p.N322S|NOL4_uc002kxr.3_Missense_Mutation_p.N379S|NOL4_uc010xbt.1_Missense_Mutation_p.N533S|NOL4_uc010dmh.2_Missense_Mutation_p.N469S|NOL4_uc010xbu.1_Missense_Mutation_p.N543S|NOL4_uc002kxt.3_Missense_Mutation_p.N505S NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 607 nucleolus RNA binding ovary(3) 3 TCTCACGGCATTGATTTCAGT 0.468 NA 25 49 0 0 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000493 73000493 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr18:73000493G>A uc002lly.2 + 2 3559 c.2996G>A c.(2995-2997)CGG>CAG p.R999Q NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 1044 C2H2-type 5. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CTCTGCAACCGGACTTTTGCG 0.532 NA 24 53 0 0 0 0 APC2 10297 broad.mit.edu 37 19 1467216 1467216 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:1467216G>A uc002lsr.1 + 15 4124 c.3916G>A c.(3916-3918)GGG>AGG p.G1306R APC2_uc002lss.1_Missense_Mutation_p.G888R|APC2_uc002lst.1_Missense_Mutation_p.G1306R|APC2_uc002lsu.1_Missense_Mutation_p.G1305R|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 1306 Interaction with CTNNB1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGAgcgcggcgggggcgccgg 0.642 NA 4 11 0 0 0 0 SNAPC2 6618 broad.mit.edu 37 19 7986386 7986386 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:7986386G>A uc002miw.1 + 2 285 c.262G>A c.(262-264)GGA>AGA p.G88R SNAPC2_uc002mix.1_RNA NM_003083 NP_003074 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, 88 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity 0 TGGCCTTCAGGGACCAAGGCG 0.657 NA 21 36 0 0 0 0 SMARCA4 6597 broad.mit.edu 37 19 11105592 11105592 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:11105592C>A uc002mqf.3 + 9 1792 c.1508C>A c.(1507-1509)GCA>GAA p.A503E SMARCA4_uc010dxp.2_Missense_Mutation_p.A503E|SMARCA4_uc010dxo.2_Missense_Mutation_p.A503E|SMARCA4_uc002mqg.1_Missense_Mutation_p.A503E|SMARCA4_uc010dxq.2_Missense_Mutation_p.A503E|SMARCA4_uc010dxr.2_Missense_Mutation_p.A503E|SMARCA4_uc002mqj.3_Missense_Mutation_p.A503E|SMARCA4_uc010dxs.2_Missense_Mutation_p.A503E|SMARCA4_uc002mqe.2_Missense_Mutation_p.A503E NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 503 HSA. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTGACCAAGGCAGTGGCCACG 0.532 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 4 21 3.86e-05 0.00011387 1 0 SMARCA4 6597 broad.mit.edu 37 19 11141507 11141507 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:11141507G>T uc002mqf.3 + 25 3768 c.3484G>T c.(3484-3486)GGC>TGC p.G1162C SMARCA4_uc010dxp.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1162C|SMARCA4_uc002mqg.1_Missense_Mutation_p.G1162C|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1162C|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1162C|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxt.1_Missense_Mutation_p.G382C|SMARCA4_uc002mqh.3_Missense_Mutation_p.G285C|SMARCA4_uc002mqi.1_Missense_Mutation_p.G365C NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1162 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGGGGGGCTCGGCCTGAACCT 0.607 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 6 7 3.6e-05 0.000106705 1 0 ZNF844 284391 broad.mit.edu 37 19 12187076 12187076 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:12187076G>C uc002mtb.2 + 4 1284 c.1141G>C c.(1141-1143)GAC>CAC p.D381H ZNF844_uc010dym.1_Missense_Mutation_p.D224H NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCGTTTTGAAGACATGAAAGA 0.383 NA 7 21 0 0 0 0 ZNF486 90649 broad.mit.edu 37 19 20308131 20308131 + Silent SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:20308131T>C uc002nou.2 + 4 669 c.612T>C c.(610-612)GAT>GAC p.D204D NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAAAAATTGATACTGGAGAGA 0.358 NA 18 38 0 0 0 0 ZNF568 374900 broad.mit.edu 37 19 37441482 37441482 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:37441482G>A uc002ofc.2 + 7 1942 c.1427G>A c.(1426-1428)TGC>TAC p.C476Y ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.C400Y|ZNF568_uc010efe.2_Missense_Mutation_p.C400Y|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 476 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTTATGAATGCAGTGAATGT 0.393 NA 20 61 0 0 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677286 37677286 + Missense_Mutation SNP T T A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:37677286T>A uc002ofq.2 - 5 1407 c.1153A>T c.(1153-1155)AGT>TGT p.S385C uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.S199C NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 385 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCACAGTCACTGCATTCATAA 0.428 NA 10 56 0 0 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38652910 38652910 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:38652910C>G uc002ohk.2 + 14 4188 c.3679C>G c.(3679-3681)CCT>GCT p.P1227A NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1227 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GTGGCATGTGCCTGCCCAGGC 0.582 NA 4 51 0 0 0 0 SERTAD1 29950 broad.mit.edu 37 19 40929342 40929342 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:40929342G>A uc002ont.3 - 2 271 c.112C>T c.(112-114)CCG>TCG p.P38S NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 38 SERTA. positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCACGGCCGGGGGTGCCTGT 0.647 NA 12 21 0 0 0 0 PSG7 5676 broad.mit.edu 37 19 43433722 43433722 + Missense_Mutation SNP T T A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:43433722T>A uc002ovl.3 - 4 683 c.581A>T c.(580-582)CAG>CTG p.Q194L PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.Q13L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.Q72L NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 194 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) TTCAGACAGCTGCAAGCTGTG 0.512 NA 138 254 0 0 0 0 PRR12 57479 broad.mit.edu 37 19 50099588 50099588 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:50099588G>A uc002poo.3 + 4 1996 c.1996G>A c.(1996-1998)GGG>AGG p.G666R NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGGCGAGGACGGGGCAGCAGA 0.672 NA 4 11 0 0 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51633226 51633226 + Nonsense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:51633226G>T uc002pvu.2 + 7 1349 c.1282G>T c.(1282-1284)GAA>TAA p.E428* SIGLEC9_uc010yct.1_Intron NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 428 Cytoplasmic (Potential). cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CTCAGTGGGGGAAGGAGAGCT 0.607 NA 9 77 0.000274275 0.000793494 1 0 ZNF808 388558 broad.mit.edu 37 19 53058290 53058290 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:53058290C>T uc010epq.1 + 5 2298 c.2121C>T c.(2119-2121)TAC>TAT p.Y707Y ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 707 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TGAAACCTTACAAGTGTAATG 0.413 NA 19 250 0 0 0 0 VN1R2 317701 broad.mit.edu 37 19 53762612 53762612 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:53762612C>T uc002qbi.2 + 1 1068 c.984C>T c.(982-984)TAC>TAT p.Y328Y NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 328 Helical; Name=6; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) CATTATGTTACGCCCTTTCCT 0.443 NA 45 109 0 0 0 0 CACNG6 59285 broad.mit.edu 37 19 54496175 54496175 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:54496175G>C uc002qct.2 + 1 634 c.44G>C c.(43-45)CGG>CCG p.R15P CACNG6_uc002qcu.2_Missense_Mutation_p.R15P|CACNG6_uc002qcv.2_Missense_Mutation_p.R15P NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 15 voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) AAccggcggcggggggccgcg 0.562 NA 8 17 0 0 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55294944 55294944 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:55294944C>T uc002qhb.1 + 7 862 c.824C>T c.(823-825)GCG>GTG p.A275V KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Missense_Mutation_p.A276V|KIR2DL1_uc002qgz.1_Missense_Mutation_p.A185V|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.A301V NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 275 Cytoplasmic (Potential). immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ACAGATGCTGCGGTAATGGAC 0.517 NA 11 55 0 0 0 0 ZNF550 162972 broad.mit.edu 37 19 58058918 58058918 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:58058918C>G uc002qpe.1 - 2 571 c.571G>C c.(571-573)GAA>CAA p.E191Q ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 232 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 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) GCATTGCATTCATAGGGTTTC 0.488 NA 16 38 0 0 0 0 ZNF551 90233 broad.mit.edu 37 19 58198329 58198329 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr19:58198329G>A uc002qpw.3 + 3 861 c.638G>A c.(637-639)AGA>AAA p.R213K ZNF551_uc002qpv.3_Missense_Mutation_p.R156K|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 229 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)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGTGAATACAGAAAAGCTTCA 0.453 NA 6 64 0 0 0 0 PXDN 7837 broad.mit.edu 37 2 1651956 1651956 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:1651956T>C uc002qxa.2 - 17 3660 c.3596A>G c.(3595-3597)GAG>GGG p.E1199G NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1199 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TTTCAGTTTCTCCCGGATCTC 0.512 NA 34 202 0 0 0 0 ROCK2 9475 broad.mit.edu 37 2 11367521 11367521 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:11367521C>T uc002rbd.1 - 6 1176 c.727G>A c.(727-729)GGC>AGC p.G243S NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 243 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TGTACCATGCCTGTCTGCATG 0.373 NA 54 130 0 0 0 0 DNMT3A 1788 broad.mit.edu 37 2 25468197 25468197 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:25468197G>A uc002rgc.2 - 13 1736 c.1479C>T c.(1477-1479)ATC>ATT p.I493I DNMT3A_uc002rgd.2_Silent_p.I493I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.I304I NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 493 GATA-type; atypical.|ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGATGCAGATGTCTGGAA 0.602 NA Mis|F|N|S AML 34 36 0 0 0 0 RGPD4 285190 broad.mit.edu 37 2 108488441 108488441 + Silent SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:108488441A>G uc010ywk.1 + 20 4063 c.3981A>G c.(3979-3981)GAA>GAG p.E1327E RGPD4_uc002tdu.2_Silent_p.E514E|RGPD4_uc010ywl.1_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1327 intracellular transport binding skin(2) 2 TTACTCAAGAAGAAGAGAGAG 0.393 NA 17 233 0 0 0 0 MERTK 10461 broad.mit.edu 37 2 112786077 112786077 + Missense_Mutation SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:112786077A>G uc002thk.1 + 19 2758 c.2636A>G c.(2635-2637)GAG>GGG p.E879G MERTK_uc002thl.1_Missense_Mutation_p.E703G NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 879 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 CAGTTGCTGGAGAGCTCTGAG 0.522 NA 43 164 0 0 0 0 SLC20A1 6574 broad.mit.edu 37 2 113417263 113417263 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:113417263G>A uc002tib.2 + 8 1977 c.1531G>A c.(1531-1533)GTC>ATC p.V511I SLC20A1_uc002tic.1_Missense_Mutation_p.V323I NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 511 Helical; (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 TAAGCCTGAAGTCTCTCTCCT 0.468 NA 11 163 0 0 0 0 IL1F6 27179 broad.mit.edu 37 2 113764229 113764229 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:113764229G>C uc010yxr.1 + 3 179 c.179G>C c.(178-180)GGG>GCG p.G60A NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN interleukin 1 family, member 6 (epsilon) 60 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding 0 AAAGACAGAGGGAACCCCATC 0.527 NA 61 221 0 0 0 0 EN1 2019 broad.mit.edu 37 2 119603946 119603946 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:119603946C>T uc002tlm.2 - 1 1814 c.798G>A c.(796-798)TCG>TCA p.S266S NM_001426 NP_001417 Q05925 HME1_HUMAN engrailed homeobox 1 266 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1) 2 GAGGCTGCTGCGAGTCAGTTT 0.637 NA 5 14 0 0 0 0 ZEB2 9839 broad.mit.edu 37 2 145156077 145156077 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:145156077G>A uc002tvu.2 - 8 3157 c.2677C>T c.(2677-2679)CCT>TCT p.P893S ZEB2_uc002tvv.2_Missense_Mutation_p.P887S|ZEB2_uc010zbm.1_Missense_Mutation_p.P864S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P922S NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 893 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GTGTATAAAGGTTTGGCACTA 0.438 NA 9 177 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152423805 152423805 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:152423805G>A uc010fnx.2 - 86 13121 c.12930C>T c.(12928-12930)GCC>GCT p.A4310A NEB_uc002txr.2_Silent_p.A733A NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4310 Nebulin 118. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CCTGCTTGGCGGCCAAGACTG 0.438 NA 52 53 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152483591 152483591 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:152483591G>C uc010fnx.2 - 66 9734 c.9543C>G c.(9541-9543)GAC>GAG p.D3181E NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3181 Nebulin 86. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) ATTTCAGCTTGTCCGGAGGCT 0.488 NA 9 111 0 0 0 0 COL3A1 1281 broad.mit.edu 37 2 189870100 189870100 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:189870100A>T uc002uqj.1 + 41 3073 c.2956A>T c.(2956-2958)AAC>TAC p.N986Y NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 986 Triple-helical region. ANGLS -> PSGQN (in Ref. 20; AA sequence). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACCAGGAGCTAACGGTCTCAG 0.433 NA 52 62 0 0 0 0 NRP2 8828 broad.mit.edu 37 2 206590770 206590770 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:206590770G>T uc002vaw.2 + 6 1745 c.954G>T c.(952-954)TGG>TGT p.W318C NRP2_uc002vat.2_Missense_Mutation_p.W318C|NRP2_uc002vau.2_Missense_Mutation_p.W318C|NRP2_uc002vav.2_Missense_Mutation_p.W318C|NRP2_uc002vax.2_Missense_Mutation_p.W318C|NRP2_uc002vay.2_Missense_Mutation_p.W318C|NRP2_uc010fud.2_Missense_Mutation_p.W318C NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 318 Extracellular (Potential).|F5/8 type C 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 ACAATGGCTGGACCCCCAACT 0.522 NA 15 40 1.52e-12 4.91e-12 1 0 IKZF2 22807 broad.mit.edu 37 2 213878608 213878608 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:213878608T>C uc002vem.2 - 7 932 c.763A>G c.(763-765)ATT>GTT p.I255V IKZF2_uc010fuu.2_Missense_Mutation_p.I110V|IKZF2_uc002vej.2_Missense_Mutation_p.I202V|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Intron|IKZF2_uc002vel.2_Missense_Mutation_p.I176V|IKZF2_uc010fuw.2_Missense_Mutation_p.I29V|IKZF2_uc010fux.2_Missense_Mutation_p.I29V|IKZF2_uc010fuy.2_Missense_Mutation_p.I183V|IKZF2_uc002ven.2_Missense_Mutation_p.I229V|IKZF2_uc002vei.2_Missense_Mutation_p.I33V NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ACCAGAGAAATATTGTTGTCC 0.388 NA 38 70 0 0 0 0 SLC19A3 80704 broad.mit.edu 37 2 228560704 228560704 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:228560704C>T uc002vpi.2 - 4 1162 c.1073G>A c.(1072-1074)GGT>GAT p.G358D SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.G354D NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 358 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) AAATAAAGAACCGGCATTGAC 0.468 NA 29 86 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9561116 9561116 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr20:9561116G>A uc002wnl.2 - 5 1211 c.666C>T c.(664-666)GCC>GCT p.A222A PAK7_uc002wnk.2_Silent_p.A222A|PAK7_uc002wnj.2_Silent_p.A222A|PAK7_uc010gby.1_Silent_p.A222A NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 222 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) AGCTACTCGAGGCTCTCTGAT 0.488 NA 15 35 0 0 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20616166 20616166 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr20:20616166C>T uc002wrz.2 - 9 1044 c.901G>A c.(901-903)GTT>ATT p.V301I RALGAPA2_uc010gcx.2_Missense_Mutation_p.V5I|RALGAPA2_uc010zsg.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 301 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 ATAAAAACAACACGAGCTGCC 0.358 NA 6 121 0 0 0 0 NECAB3 63941 broad.mit.edu 37 20 32247476 32247476 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr20:32247476C>T uc002wzn.3 - 8 812 c.706G>A c.(706-708)GAC>AAC p.D236N NECAB3_uc002wzl.2_Missense_Mutation_p.D15N|NECAB3_uc002wzm.3_Missense_Mutation_p.D236N|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Missense_Mutation_p.D187N|NECAB3_uc002wzq.3_Missense_Mutation_p.D236N|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Missense_Mutation_p.D236N|C20orf144_uc002wzs.1_5'Flank NM_031232 NP_112509 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 236 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding lung(1) 1 TCGAGCTGGTCGATGAGCTCC 0.706 NA 4 9 0 0 0 0 CEP250 11190 broad.mit.edu 37 20 34078580 34078580 + Nonsense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr20:34078580C>T uc002xcm.2 + 22 3375 c.2704C>T c.(2704-2706)CAG>TAG p.Q902* CEP250_uc010zve.1_Nonsense_Mutation_p.Q270* NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 902 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGAGGCCATCCAGGCCCAGAG 0.557 NA 9 77 0 0 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869729 36869729 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr20:36869729G>A uc002xhy.1 - 3 1076 c.804C>T c.(802-804)AGC>AGT p.S268S KIAA1755_uc002xhz.1_Silent_p.S268S NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 268 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CGAAGTCCTGGCTGACCACCT 0.572 NA 11 75 0 0 0 0 JPH2 57158 broad.mit.edu 37 20 42815270 42815270 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr20:42815270G>T uc002xli.1 - 1 949 c.76C>A c.(76-78)CAT>AAT p.H26N JPH2_uc002xlj.2_Missense_Mutation_p.H26N NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 26 MORN 1.|Gly-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CACAGTCCATGCCCATGGGCC 0.622 NA 8 43 2.18e-05 6.49e-05 1 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933565 31933565 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr21:31933565C>T uc011adb.1 - 1 44 c.44G>A c.(43-45)TGT>TAT p.C15Y NM_181614 NP_853645 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 15 intermediate filament 0 GAATCCTCCACAGCCGTAGCC 0.552 NA 23 75 0 0 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993766 45993766 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr21:45993766C>A uc002zfk.1 + 1 161 c.131C>A c.(130-132)CCC>CAC p.P44H C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 44 2.|36 X 5 AA repeats of C-C-X(3). keratin filament 0 TGCTGCGCCCCCAGCTGCTGC 0.711 NA 15 27 3.88e-16 1.27e-15 1 0 CECR2 27443 broad.mit.edu 37 22 18031816 18031816 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr22:18031816C>T uc010gqw.1 + 17 4438 c.4312C>T c.(4312-4314)CCC>TCC p.P1438S CECR2_uc010gqv.1_Missense_Mutation_p.P1296S|CECR2_uc002zml.2_Missense_Mutation_p.P1297S|CECR2_uc002zmo.2_RNA NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1480 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) TCCAACACTTCCCCTGGATCA 0.498 NA 12 32 0 0 0 0 PIWIL3 440822 broad.mit.edu 37 22 25131809 25131809 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr22:25131809G>A uc003abd.1 - 13 1917 c.1500C>T c.(1498-1500)CCC>CCT p.P500P PIWIL3_uc011ajx.1_Silent_p.P391P|PIWIL3_uc011ajy.1_Silent_p.P391P|PIWIL3_uc010gut.1_Silent_p.P500P NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 500 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 CATTAAGTAAGGGTAATTCTC 0.383 NA 39 103 0 0 0 0 CCDC117 150275 broad.mit.edu 37 22 29169754 29169754 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr22:29169754A>T uc003aeb.2 + 2 403 c.227A>T c.(226-228)GAG>GTG p.E76V CCDC117_uc011aki.1_Intron|CCDC117_uc011akj.1_Missense_Mutation_p.E76V|CCDC117_uc011akk.1_5'UTR NM_173510 NP_775781 Q8IWD4 CC117_HUMAN coiled-coil domain containing 117 76 breast(1) 1 CGAGAGGAGGAGGAGGATGAT 0.373 NA 9 11 0 0 0 0 TAB1 10454 broad.mit.edu 37 22 39772188 39772188 + Missense_Mutation SNP T T G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr22:39772188T>G uc003axr.2 + 2 2029 c.247T>G c.(247-249)TCC>GCC p.S83A SYNGR1_uc003axo.3_Missense_Mutation_p.S157A|SYNGR1_uc003axp.3_Missense_Mutation_p.L123R|SYNGR1_uc003axq.3_Missense_Mutation_p.S157A|SYNGR1_uc003axs.3_Missense_Mutation_p.S158A NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 7 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 CTCCTTTTTCTCCATCTTCAC 0.637 NA 35 51 0 0 0 0 CERK 64781 broad.mit.edu 37 22 47103761 47103761 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr22:47103761G>A uc003bia.2 - 6 801 c.694C>T c.(694-696)CGG>TGG p.R232W CERK_uc010hae.2_Missense_Mutation_p.R34W NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 232 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) ATTCCAATCCGGAGGCTACTG 0.602 NA 16 109 0 0 0 0 MAPK11 5600 broad.mit.edu 37 22 50705870 50705870 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr22:50705870A>T uc003bkr.2 - 4 405 c.347T>A c.(346-348)ATC>AAC p.I116N MAPK11_uc010hax.2_5'UTR|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_Missense_Mutation_p.H96Q|MAPK11_uc010haz.2_Missense_Mutation_p.I8N NM_002751 NP_002742 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 116 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding lung(1)|breast(1) 2 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCACTTGACGATGTTGTTCAG 0.682 NA 9 12 0 0 0 0 ZNF385D 79750 broad.mit.edu 37 3 21706434 21706434 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:21706434G>T uc003cce.2 - 2 517 c.109C>A c.(109-111)CTT>ATT p.L37I ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 37 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GGAAAGGGAAGAAATGGTTTA 0.512 NA 10 23 2.74e-10 8.69e-10 1 0 GLB1 2720 broad.mit.edu 37 3 33059966 33059966 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:33059966C>T uc003cfi.1 - 13 1438 c.1321G>A c.(1321-1323)GAT>AAT p.D441N GLB1_uc003cfh.1_Missense_Mutation_p.D411N|GLB1_uc003cfj.1_Missense_Mutation_p.D310N|GLB1_uc011axk.1_Missense_Mutation_p.D489N NM_000404 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 isoform a preproprotein 441 D -> N (in GM1G1). carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding large_intestine(1) 1 Melanoma(143;0.104) TATGCTCGATCGTGGACTCCA 0.507 NA 16 70 0 0 0 0 ARPP21 10777 broad.mit.edu 37 3 35833960 35833960 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:35833960A>T uc003cgb.2 + 19 2383 c.2119A>T c.(2119-2121)AAC>TAC p.N707Y ARPP21_uc003cga.2_Missense_Mutation_p.N688Y|ARPP21_uc011axy.1_Missense_Mutation_p.N708Y|ARPP21_uc003cgf.2_Missense_Mutation_p.N543Y|ARPP21_uc003cgg.2_Missense_Mutation_p.N230Y NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 707 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CGTGATAAATAACCAACAAGG 0.463 NA 33 61 0 0 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033930 37033930 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:37033930G>A uc003cgk.2 - 1 866 c.639C>T c.(637-639)AAC>AAT p.N213N MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 213 endoplasmic reticulum 0 GATGAGTCAGGTTGATTATGG 0.517 NA 6 97 0 0 0 0 CTNNB1 1499 broad.mit.edu 37 3 41267196 41267196 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:41267196C>T uc010hia.1 + 7 936 c.780C>T c.(778-780)CAC>CAT p.H260H CTNNB1_uc003ckp.2_Silent_p.H260H|CTNNB1_uc003ckq.2_Silent_p.H260H|CTNNB1_uc003ckr.2_Silent_p.H260H|CTNNB1_uc011azf.1_Silent_p.H253H|CTNNB1_uc011azg.1_Silent_p.H188H|uc010hib.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 260 ARM 3. H->A: Abolishes or strongly reduces AXIN1 and AXIN2 binding. Strongly reduces phosphorylation and degradation; when associated with A-386 and A-383. adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CAACTCTCCACAACCTTTTAT 0.383 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 54 37 0 0 0 0 CDCP1 64866 broad.mit.edu 37 3 45127378 45127378 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:45127378G>A uc003com.2 - 9 2398 c.2263C>T c.(2263-2265)CTG>TTG p.L755L NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 755 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TCTGGCTGCAGGAAGGAGCCG 0.577 NA 71 41 0 0 0 0 PBRM1 55193 broad.mit.edu 37 3 52637658 52637658 + Silent SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:52637658A>G uc003des.2 - 17 2670 c.2658T>C c.(2656-2658)CTT>CTC p.L886L PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Silent_p.L886L|PBRM1_uc003der.2_Silent_p.L854L|PBRM1_uc003det.2_Silent_p.L901L|PBRM1_uc003deu.2_Silent_p.L901L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.L886L|PBRM1_uc010hmk.1_Silent_p.L886L|PBRM1_uc003dey.2_Silent_p.L886L|PBRM1_uc003dez.1_Silent_p.L886L|PBRM1_uc003dfb.1_Silent_p.L799L|PBRM1_uc003dfa.1_Silent_p.L232L NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 886 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CCGGTGAAAGAAGAATCTCTC 0.343 NA Mis|N|F|S|D|O clear cell renal carcinoma|breast 9 29 0 0 0 0 FAM55C 91775 broad.mit.edu 37 3 101535734 101535734 + Nonsense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:101535734C>T uc003dvn.2 + 7 1655 c.1018C>T c.(1018-1020)CAG>TAG p.Q340* FAM55C_uc010hpn.2_Nonsense_Mutation_p.Q340* NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 340 extracellular region ovary(1)|pancreas(1)|skin(1) 3 TAAGATGCGTCAGTTTAATGA 0.393 NA 7 92 0 0 0 0 DZIP3 9666 broad.mit.edu 37 3 108353773 108353773 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:108353773G>T uc003dxd.2 + 10 1294 c.872G>T c.(871-873)TGC>TTC p.C291F DZIP3_uc003dxf.1_Missense_Mutation_p.C291F|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.C291F|DZIP3_uc003dxg.1_Missense_Mutation_p.C14F NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 291 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CATAAAATTTGCTGGAAAAAG 0.264 NA 17 60 3.52e-12 1.13e-11 1 0 PLXND1 23129 broad.mit.edu 37 3 129303021 129303021 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:129303021G>A uc003emx.2 - 7 2185 c.2085C>T c.(2083-2085)GCC>GCT p.A695A NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 695 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGGTGAAATTGGCCTTGACGA 0.597 NA 5 6 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130380825 130380825 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:130380825G>T uc010htl.2 + 34 6206 c.6175G>T c.(6175-6177)GCT>TCT p.A2059S COL6A6_uc003eni.3_Missense_Mutation_p.A158S NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 2059 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AAATGGAGATGCTTTTATTGG 0.413 NA 14 42 3.27e-08 1.02e-07 1 0 MME 4311 broad.mit.edu 37 3 154834497 154834497 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:154834497C>G uc010hvr.1 + 6 695 c.484C>G c.(484-486)CCA>GCA p.P162A MME_uc003fab.1_Missense_Mutation_p.P162A|MME_uc003fac.1_Missense_Mutation_p.P162A|MME_uc003fad.1_Missense_Mutation_p.P162A|MME_uc003fae.1_Missense_Mutation_p.P162A NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 162 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CAAACTGTTACCAGACATATA 0.363 NA 7 45 0 0 0 0 SI 6476 broad.mit.edu 37 3 164727122 164727122 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:164727122G>T uc003fei.2 - 35 4186 c.4124C>A c.(4123-4125)GCC>GAC p.A1375D NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1375 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AATTTCTCTGGCCCACCACTC 0.383 NA HNSCC(35;0.089) 18 57 1.45e-14 4.73e-14 1 0 SLC2A2 6514 broad.mit.edu 37 3 170723243 170723243 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:170723243C>T uc003fhe.1 - 7 1103 c.794G>A c.(793-795)GGA>GAA p.G265E SLC2A2_uc003fhf.1_Missense_Mutation_p.G92E|SLC2A2_uc011bpu.1_Missense_Mutation_p.G138E NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 265 Cytoplasmic (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) ATCATCATATCCTCTGAGTCT 0.343 NA 26 58 0 0 0 0 GHSR 2693 broad.mit.edu 37 3 172165726 172165726 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:172165726C>T uc003fib.1 - 1 478 c.478G>A c.(478-480)GTG>ATG p.V160M GHSR_uc011bpv.1_Missense_Mutation_p.V160M NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 160 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) ACCAGCTTCACCCGCCCCTTG 0.652 NA 6 53 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 17 62 0 0 0 0 ATP13A4 84239 broad.mit.edu 37 3 193156328 193156328 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:193156328C>G uc003ftd.2 - 23 2716 c.2608G>C c.(2608-2610)GCA>CCA p.A870P ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 870 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCCACAGATGCCTCCTGCTCT 0.443 NA 25 30 0 0 0 0 LGI2 55203 broad.mit.edu 37 4 25013978 25013978 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:25013978G>A uc003grf.2 - 7 898 c.799C>T c.(799-801)CGG>TGG p.R267W NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 267 EAR 2. extracellular region 0 Breast(46;0.173) TCATAGCTCCGGAAATTCATT 0.507 NA 7 103 0 0 0 0 SULT1B1 27284 broad.mit.edu 37 4 70620403 70620403 + Nonsense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:70620403C>A uc003hen.2 - 3 560 c.262G>T c.(262-264)GGA>TGA p.G88* NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 88 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 GTTCTTAATCCAGGGAGAGTC 0.299 NA 28 70 9.65e-13 3.13e-12 1 0 PTPN13 5783 broad.mit.edu 37 4 87703369 87703369 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:87703369G>A uc003hpz.2 + 37 6458 c.5978G>A c.(5977-5979)GGG>GAG p.G1993E PTPN13_uc003hpy.2_Missense_Mutation_p.G1998E|PTPN13_uc003hqa.2_Missense_Mutation_p.G1974E|PTPN13_uc003hqb.2_Missense_Mutation_p.G1802E|PTPN13_uc003hqc.1_Missense_Mutation_p.G359E NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 1993 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TACAGTGTGGGGTCTTGCAGC 0.443 NA 9 85 0 0 0 0 HSPA4L 22824 broad.mit.edu 37 4 128732697 128732697 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:128732697C>T uc003ifm.2 + 12 1737 c.1484C>T c.(1483-1485)GCA>GTA p.A495V HSPA4L_uc010iny.1_Missense_Mutation_p.A454V|HSPA4L_uc011cgr.1_Missense_Mutation_p.A462V NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 495 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GTGGCTAGCGCATCAGTAATT 0.368 NA 8 26 0 0 0 0 NAA15 80155 broad.mit.edu 37 4 140309172 140309172 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:140309172G>A uc003ihu.1 + 20 2791 c.2535G>A c.(2533-2535)GAG>GAA p.E845E NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 845 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 GATATGAAGAGGATATGAAGA 0.388 NA 13 25 0 0 0 0 PDGFC 56034 broad.mit.edu 37 4 157689065 157689065 + Missense_Mutation SNP C C T rs141820181 TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:157689065C>T uc003iph.1 - 5 1272 c.781G>A c.(781-783)GAA>AAA p.E261K PDGFC_uc003ipi.1_Missense_Mutation_p.E98K|PDGFC_uc011cis.1_Missense_Mutation_p.E98K|PDGFC_uc011cir.1_Missense_Mutation_p.E105K NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN platelet-derived growth factor C precursor 261 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity p.E261K(1) ovary(1)|lung(1)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) TTTAGTTCTTCCCTTATGGAC 0.438 NA 38 90 0 0 0 0 ODZ3 55714 broad.mit.edu 37 4 183601503 183601503 + Splice_Site SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:183601503G>A uc003ivd.1 + 8 1676 c.1639_splice c.e8+1 p.A547_splice ODZ3_uc003ive.1_Splice_Site NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TGTTCAAGAGGTATGCAAGTT 0.443 NA 8 19 0 0 0 0 ING2 3622 broad.mit.edu 37 4 184432021 184432021 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:184432021G>C uc003ivs.1 + 2 888 c.759G>C c.(757-759)TGG>TGC p.W253C ING2_uc011ckk.1_Missense_Mutation_p.W213C NM_001564 NP_001555 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 253 PHD-type. chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding p.W253C(1) ovary(1) 1 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AGGGGAAATGGTATTGCCCAA 0.388 NA 4 30 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187557355 187557355 + Nonsense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:187557355G>C uc003izf.2 - 6 4195 c.4007C>G c.(4006-4008)TCA>TGA p.S1336* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1336 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 GGTGGTTGATGACTTTTGAGG 0.418 NA HNSCC(5;0.00058) 15 36 0 0 0 0 TUBB4Q 56604 broad.mit.edu 37 4 190904367 190904367 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr4:190904367C>G uc011clg.1 - 4 616 c.613G>C c.(613-615)GCG>CCG p.A205P NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 206 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) TCATATAGCGCTTCGTTATCT 0.542 NA 5 67 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26903930 26903930 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:26903930G>A uc003jgs.1 - 6 984 c.815C>T c.(814-816)ACG>ATG p.T272M CDH9_uc010iug.2_Missense_Mutation_p.T272M NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 272 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AAATTGATACGTACCTATAAA 0.318 NA 7 28 0 0 0 0 NSA2 10412 broad.mit.edu 37 5 74064792 74064792 + Missense_Mutation SNP T T A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:74064792T>A uc003kdk.1 + 2 123 c.40T>A c.(40-42)TAT>AAT p.Y14N GFM2_uc003kdh.1_5'Flank|GFM2_uc003kdi.1_5'Flank|GFM2_uc010izj.1_5'Flank|GFM2_uc010izk.1_5'Flank|GFM2_uc003kdj.1_5'Flank|GFM2_uc010izl.1_5'Flank NM_014886 NP_055701 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog 14 rRNA processing nucleolus|ribonucleoprotein complex ovary(1) 1 CCGTAAACGCTATGGATACCG 0.328 NA 5 9 0 0 0 0 LIX1 167410 broad.mit.edu 37 5 96478236 96478236 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:96478236G>A uc003kmy.3 - 1 285 c.45C>T c.(43-45)GTC>GTT p.V15V NM_153234 NP_694966 Q8N485 LIX1_HUMAN limb expression 1 15 ovary(1) 1 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) TGTGAGGCAAGACTTGGGCAA 0.453 NA 6 55 0 0 0 0 PGGT1B 5229 broad.mit.edu 37 5 114588910 114588910 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:114588910C>T uc003kqw.3 - 2 204 c.183G>A c.(181-183)TTG>TTA p.L61L PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Silent_p.L61L NM_005023 NP_005014 P53609 PGTB1_HUMAN geranylgeranyltransferase type 1 beta 61 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity 0 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) CTAAGGAATCCAACATATCCA 0.363 NA 11 50 0 0 0 0 ZNF608 57507 broad.mit.edu 37 5 123983042 123983042 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:123983042C>A uc003ktq.1 - 4 3158 c.3035G>T c.(3034-3036)GGG>GTG p.G1012V ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.G1012V|ZNF608_uc003ktt.1_Missense_Mutation_p.G1012V|ZNF608_uc003ktp.1_5'Flank NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1012 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) ACCGACCTGCCCAGGGTGCAT 0.473 NA 46 94 8.21e-20 2.74e-19 1 0 SLC27A6 28965 broad.mit.edu 37 5 128351596 128351596 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:128351596C>A uc003kuy.2 + 6 1384 c.988C>A c.(988-990)CAT>AAT p.H330N SLC27A6_uc003kuz.2_Missense_Mutation_p.H330N NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 330 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGAAAAGGATCATAAGGTGCG 0.308 NA 11 30 3.86e-05 0.00011387 1 0 IL4 3565 broad.mit.edu 37 5 132015436 132015436 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:132015436G>A uc003kxk.1 + 3 584 c.214G>A c.(214-216)GCT>ACT p.A72T IL4_uc003kxl.1_Missense_Mutation_p.A56T NM_000589 NP_000580 P05112 IL4_HUMAN interleukin 4 isoform 1 precursor 72 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding 0 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CTTCTGCAGGGCTGCGACTGT 0.542 NA 63 124 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202653 140202653 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:140202653G>A uc003lhl.2 + 1 1293 c.1293G>A c.(1291-1293)TCG>TCA p.S431S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.S431S|PCDHA5_uc003lhj.1_Silent_p.S431S NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 431 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGGGGCTCGCCTTCGCTGT 0.647 NA 12 150 0 0 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222342 140222342 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:140222342C>T uc003lhs.2 + 1 1436 c.1436C>T c.(1435-1437)GCG>GTG p.A479V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A479V NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 479 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGTGTCTGCGCGAGACGCG 0.657 NA 32 18 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262926 140262926 + Missense_Mutation SNP C C T rs144000682 byFrequency TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:140262926C>T uc003lif.2 + 1 1073 c.1073C>T c.(1072-1074)CCC>CTC p.P358L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P358L|PCDHA13_uc003lid.2_Missense_Mutation_p.P358L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 358 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTCACTCCCCATCAGAGAA 0.488 NA 23 57 0 0 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731974 140731974 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:140731974G>T uc003ljo.1 + 1 2147 c.2147G>T c.(2146-2148)AGC>ATC p.S716I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.S716I|PCDHGA4_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 716 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTCCTCCAGCCTCGACACT 0.582 NA 15 147 1.52e-12 4.91e-12 1 0 FAM71B 153745 broad.mit.edu 37 5 156590090 156590090 + Missense_Mutation SNP C C G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:156590090C>G uc003lwn.2 - 2 1286 c.1186G>C c.(1186-1188)GGA>CGA p.G396R NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 396 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGAGGGGTCCCACTGCTGGT 0.537 NA 25 34 0 0 0 0 GABRA6 2559 broad.mit.edu 37 5 161128536 161128536 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:161128536G>A uc003lyu.2 + 9 1457 c.1119G>A c.(1117-1119)AGG>AGA p.R373R GABRA6_uc003lyv.2_Silent_p.R144R NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 373 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAAGAAAAGGATCACTTCTC 0.398 NA TCGA Ovarian(5;0.080) 22 62 0 0 0 0 FGFR4 2264 broad.mit.edu 37 5 176517973 176517973 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:176517973G>C uc003mfl.2 + 5 638 c.471G>C c.(469-471)AAG>AAC p.K157N FGFR4_uc003mfm.2_Missense_Mutation_p.K157N|FGFR4_uc011dfu.1_Missense_Mutation_p.K157N|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_3'UTR|FGFR4_uc011dfw.1_Missense_Mutation_p.K157N|FGFR4_uc003mfo.2_Missense_Mutation_p.K157N NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 157 Extracellular (Potential).|Ig-like C2-type 2. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GCATGGAGAAGAAACTGCATG 0.612 NA TSP Lung(9;0.080) 5 48 0 0 0 0 NSD1 64324 broad.mit.edu 37 5 176665392 176665392 + Nonsense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:176665392C>A uc003mfr.3 + 7 4214 c.4076C>A c.(4075-4077)TCA>TAA p.S1359* NSD1_uc003mft.3_Nonsense_Mutation_p.S1090*|NSD1_uc003mfs.1_Nonsense_Mutation_p.S1256*|NSD1_uc011dfx.1_Nonsense_Mutation_p.S1007* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1359 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TTGGCTCAGTCAGAACTTGGA 0.542 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 78 34 1.03e-28 3.48e-28 1 0 N4BP3 23138 broad.mit.edu 37 5 177548532 177548532 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:177548532G>A uc003mik.1 + 5 1412 c.1165G>A c.(1165-1167)GCG>ACG p.A389T N4BP3_uc003mil.1_Missense_Mutation_p.A58T NM_015111 NP_055926 O15049 N4BP3_HUMAN Nedd4 binding protein 3 389 Potential. cytoplasmic vesicle membrane 0 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAAGCCCAGGCGGAACTGGC 0.622 NA 47 90 0 0 0 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216840 26216840 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:26216840G>C uc003ngz.2 - 1 33 c.32C>G c.(31-33)CCG>CGG p.P11R HIST1H2AE_uc003nha.1_5'Flank NM_003518 NP_003509 P62807 H2B1C_HUMAN histone cluster 1, H2bg 11 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) ACCCTTCTTCGGAGCAGGAGC 0.493 NA 10 113 0 0 0 0 CDSN 1041 broad.mit.edu 37 6 31084822 31084822 + Silent SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:31084822G>T uc003nsm.1 - 2 597 c.570C>A c.(568-570)TCC>TCA p.S190S PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN corneodesmosin precursor 190 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity ovary(1)|pancreas(1) 2 GTCCAGGCTGGGAAGGGTTTA 0.557 NA 38 36 3.63e-18 1.2e-17 1 0 HSP90AB1 3326 broad.mit.edu 37 6 44217289 44217289 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:44217289C>T uc003oxa.1 + 3 407 c.323C>T c.(322-324)TCT>TTT p.S108F HSP90AB1_uc011dvr.1_Missense_Mutation_p.S108F|HSP90AB1_uc003oxb.1_Missense_Mutation_p.S108F|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 108 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATTGCCAAGTCTGGTACTAAA 0.418 NA 9 59 0 0 0 0 TINAG 27283 broad.mit.edu 37 6 54245333 54245333 + Silent SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:54245333A>T uc003pcj.2 + 10 1406 c.1260A>T c.(1258-1260)ACA>ACT p.T420T TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 420 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) GATGGGGCACACTGAGAGGAG 0.358 NA 4 11 0 0 0 0 LMBRD1 55788 broad.mit.edu 37 6 70428852 70428852 + Nonsense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:70428852G>C uc003pfa.2 - 8 873 c.758C>G c.(757-759)TCA>TGA p.S253* LMBRD1_uc003pey.2_Nonsense_Mutation_p.S49*|LMBRD1_uc003pez.2_Nonsense_Mutation_p.S180*|LMBRD1_uc010kal.2_Nonsense_Mutation_p.S180*|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 253 Cytoplasmic (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 ACTCACTTTTGATTTAATCGT 0.353 NA 5 23 0 0 0 0 SENP6 26054 broad.mit.edu 37 6 76344481 76344481 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:76344481C>T uc003pid.3 + 5 1031 c.412C>T c.(412-414)CAT>TAT p.H138Y SENP6_uc003pie.3_Missense_Mutation_p.H138Y|SENP6_uc003pic.2_Missense_Mutation_p.H138Y|SENP6_uc003pif.1_Missense_Mutation_p.H29Y NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 138 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) TAGACGTTTTCATCATGCTCA 0.353 NA 14 32 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90384310 90384310 + Splice_Site SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:90384310T>C uc003pnn.1 - 79 12878 c.12762_splice c.e79-1 p.R4254_splice NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGGAGGTTCCTGTACAGAGAA 0.507 NA 13 32 0 0 0 0 FUT9 10690 broad.mit.edu 37 6 96651512 96651512 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:96651512G>T uc003pop.3 + 3 822 c.481G>T c.(481-483)GAT>TAT p.D161Y NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 161 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TTACCGCCGTGATTCAGATAT 0.453 NA 19 35 1.18e-14 3.86e-14 1 0 FAM184A 79632 broad.mit.edu 37 6 119338093 119338093 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:119338093T>C uc003pyj.2 - 5 1697 c.1349A>G c.(1348-1350)AAG>AGG p.K450R FAM184A_uc003pyk.3_Missense_Mutation_p.K330R|FAM184A_uc003pyl.3_Missense_Mutation_p.K330R NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 450 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 CTGAGTTCTCTTTGCTTCATT 0.333 NA 11 35 0 0 0 0 KIAA1244 57221 broad.mit.edu 37 6 138566721 138566721 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:138566721G>T uc003qhu.2 + 8 658 c.658G>T c.(658-660)GCC>TCC p.A220S NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 220 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GCTGCAAGCCGCCATAAAGTA 0.453 NA 5 14 1.24e-05 3.71e-05 1 0 SYNE1 23345 broad.mit.edu 37 6 152462343 152462343 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:152462343G>A uc010kiw.2 - 139 25843 c.25241C>T c.(25240-25242)ACG>ATG p.T8414M SYNE1_uc010kiv.2_Missense_Mutation_p.T2938M|SYNE1_uc003qos.3_Missense_Mutation_p.T2938M|SYNE1_uc003qot.3_Missense_Mutation_p.T8366M|SYNE1_uc003qou.3_Missense_Mutation_p.T8414M|SYNE1_uc003qop.3_Missense_Mutation_p.T599M|SYNE1_uc011eez.1_Missense_Mutation_p.T616M|SYNE1_uc003qoq.3_Missense_Mutation_p.T616M|SYNE1_uc003qor.3_Missense_Mutation_p.T1337M NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8414 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCACCAGCCGTTTGGGTTTC 0.478 NA HNSCC(10;0.0054) 28 60 0 0 0 0 TIAM2 26230 broad.mit.edu 37 6 155458488 155458488 + Missense_Mutation SNP A A G TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:155458488A>G uc003qqb.2 + 7 2645 c.1372A>G c.(1372-1374)ATT>GTT p.I458V TIAM2_uc003qqe.2_Missense_Mutation_p.I458V|TIAM2_uc010kjj.2_5'UTR NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 458 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CCGGCAGAACATTTATGAGAA 0.507 NA 38 76 0 0 0 0 PLG 5340 broad.mit.edu 37 6 161159606 161159606 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr6:161159606C>T uc003qtm.3 + 15 1902 c.1839C>T c.(1837-1839)TCC>TCT p.S613S NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 613 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CCTTGATATCCCCAGAGTGGG 0.373 NA 30 60 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 4185403 4185403 + Silent SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:4185403C>A uc003smx.2 + 29 4417 c.4278C>A c.(4276-4278)ACC>ACA p.T1426T SDK1_uc010kso.2_Silent_p.T702T|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1426 Fibronectin type-III 8. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACACCTTCACCACCGTGGAGG 0.657 NA 9 60 1.77e-08 5.52e-08 1 0 SCIN 85477 broad.mit.edu 37 7 12675756 12675756 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:12675756T>C uc003ssn.3 + 10 1616 c.1406T>C c.(1405-1407)GTG>GCG p.V469A SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.V222A NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 469 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GGACAGGCTGTGCAGGTTGGG 0.468 NA 4 8 0 0 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31124410 31124410 + Missense_Mutation SNP T T A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:31124410T>A uc003tca.1 + 8 720 c.497T>A c.(496-498)GTC>GAC p.V166D ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.V145D|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.V166D|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.V166D|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.V166D|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 166 Helical; Name=1; (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity p.V166fs*25(1) ovary(1) 1 ACATCCCTCGTCACCCTCACC 0.557 NA 30 79 0 0 0 0 GRB10 2887 broad.mit.edu 37 7 50682481 50682481 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:50682481C>A uc003tpi.2 - 9 1112 c.1081G>T c.(1081-1083)GGG>TGG p.G361W GRB10_uc003tph.3_Missense_Mutation_p.G303W|GRB10_uc003tpj.2_Missense_Mutation_p.G315W|GRB10_uc003tpk.2_Missense_Mutation_p.G361W|GRB10_uc010kzb.2_Missense_Mutation_p.G303W|GRB10_uc003tpl.2_Missense_Mutation_p.G355W|GRB10_uc003tpm.2_Missense_Mutation_p.G303W|GRB10_uc003tpn.2_Missense_Mutation_p.G303W NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 361 PH. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) ATGCAGAGCCCGTGGTCTGTA 0.587 NA Russell-Silver_syndrome 31 68 8.17e-17 2.69e-16 1 0 EGFR 1956 broad.mit.edu 37 7 55220295 55220295 + Missense_Mutation SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:55220295A>T uc003tqk.2 + 6 931 c.685A>T c.(685-687)AGT>TGT p.S229C EGFR_uc003tqh.2_Missense_Mutation_p.S229C|EGFR_uc003tqi.2_Missense_Mutation_p.S229C|EGFR_uc003tqj.2_Missense_Mutation_p.S229C|EGFR_uc010kzg.1_Missense_Mutation_p.S184C|EGFR_uc011kco.1_Missense_Mutation_p.S176C|EGFR_uc003tql.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 229 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAAGTCCCCCAGTGACTGCTG 0.617 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 56 85 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86394583 86394583 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:86394583T>C uc003uid.2 + 2 1221 c.122T>C c.(121-123)TTA>TCA p.L41S GRM3_uc010lef.2_Missense_Mutation_p.L39S|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 41 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GACCTTGTTTTAGGGGGCCTG 0.413 NA 23 48 0 0 0 0 PON2 5445 broad.mit.edu 37 7 95039308 95039308 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:95039308G>A uc003unv.2 - 6 721 c.600C>T c.(598-600)CAC>CAT p.H200H PON2_uc003unu.2_Silent_p.H188H|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Silent_p.H113H NM_000305 NP_000296 Q15165 PON2_HUMAN paraoxonase 2 isoform 1 200 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding 0 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) CATTTGCCCAGTGTAAGTTCA 0.373 NA 23 54 0 0 0 0 TMEM168 64418 broad.mit.edu 37 7 112407741 112407741 + Silent SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:112407741G>C uc003vgn.2 - 5 1997 c.1605C>G c.(1603-1605)TCC>TCG p.S535S TMEM168_uc010lju.2_Silent_p.S535S|TMEM168_uc011kmr.1_Silent_p.S151S NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 535 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 GGGAACAAAAGGAACCATTCT 0.403 NA 17 41 0 0 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518983 113518983 + Missense_Mutation SNP T T C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:113518983T>C uc010ljy.1 - 4 2195 c.2164A>G c.(2164-2166)ACT>GCT p.T722A NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 722 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GCTTTCTCAGTAATGCCATGA 0.388 NA 3 139 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154172062 154172062 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:154172062G>C uc003wlk.2 + 3 526 c.397G>C c.(397-399)GTA>CTA p.V133L DPP6_uc003wli.2_Missense_Mutation_p.V69L|DPP6_uc003wlj.2_Missense_Mutation_p.V133L|DPP6_uc010lqh.1_Missense_Mutation_p.V71L|DPP6_uc003wlm.2_Missense_Mutation_p.V71L|DPP6_uc011kvq.1_Missense_Mutation_p.V71L NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 133 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAAGGTCACTGTAGAAGATCT 0.403 NA 39 44 0 0 0 0 NCAPG2 54892 broad.mit.edu 37 7 158449250 158449250 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr7:158449250C>T uc003wnv.1 - 18 2353 c.2208G>A c.(2206-2208)CAG>CAA p.Q736Q NCAPG2_uc010lqu.1_Silent_p.Q528Q|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.Q736Q|NCAPG2_uc011kwe.1_Silent_p.Q736Q|NCAPG2_uc011kwc.1_Silent_p.Q237Q|NCAPG2_uc011kwd.1_Silent_p.Q179Q NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 736 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CTACCTTGGCCTGGGCATGCT 0.468 NA 7 55 0 0 0 0 MTUS1 57509 broad.mit.edu 37 8 17611496 17611496 + Silent SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr8:17611496G>C uc003wxv.2 - 2 2295 c.1821C>G c.(1819-1821)GCC>GCG p.A607A MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.A607A|MTUS1_uc010lsz.2_Silent_p.A607A NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 607 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) TCGATTTCACGGCAGATGTTG 0.433 NA 5 167 0 0 0 0 JPH1 56704 broad.mit.edu 37 8 75227563 75227563 + Silent SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr8:75227563G>C uc003yae.2 - 2 712 c.672C>G c.(670-672)CGC>CGG p.R224R JPH1_uc003yaf.2_Silent_p.R224R|JPH1_uc003yag.1_Silent_p.R88R NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 224 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) ATTCGGACTTGCGAAGTTTCA 0.582 NA 9 104 0 0 0 0 RSPO2 340419 broad.mit.edu 37 8 108970481 108970481 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr8:108970481C>A uc003yms.2 - 5 1101 c.443G>T c.(442-444)GGT>GTT p.G148V RSPO2_uc003ymq.2_Missense_Mutation_p.G81V|RSPO2_uc003ymr.2_Missense_Mutation_p.G84V NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 148 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding p.G148S(1) skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) GCTCCAATGACCAACTTCACA 0.368 NA 20 41 1.5e-11 4.81e-11 1 0 CSMD3 114788 broad.mit.edu 37 8 113326782 113326782 + Silent SNP A A T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr8:113326782A>T uc003ynu.2 - 48 7584 c.7425T>A c.(7423-7425)CCT>CCA p.P2475P CSMD3_uc003yns.2_Silent_p.P1677P|CSMD3_uc003ynt.2_Silent_p.P2435P|CSMD3_uc011lhx.1_Silent_p.P2371P|CSMD3_uc003ynw.1_Silent_p.P186P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2475 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGTAACTGTCAGGATATCCAG 0.388 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 23 0 0 0 0 FAM83H 286077 broad.mit.edu 37 8 144808544 144808544 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr8:144808544G>A uc003yzk.2 - 5 3156 c.3087C>T c.(3085-3087)AAC>AAT p.N1029N FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 1029 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGTACAAGGCGTTGGCCGTGG 0.692 NA 5 10 0 0 0 0 PARP10 84875 broad.mit.edu 37 8 145060329 145060329 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr8:145060329C>T uc003zal.3 - 2 183 c.75G>A c.(73-75)GAG>GAA p.E25E PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Silent_p.E37E|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.E25E|PARP10_uc010mfn.1_Silent_p.E25E|PARP10_uc010mfo.1_Intron NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 25 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGTGAGCAGCTCGTCGGGCA 0.657 NA 12 63 0 0 0 0 LRRC14 9684 broad.mit.edu 37 8 145746352 145746352 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr8:145746352G>A uc003zdk.1 + 4 1118 c.972G>A c.(970-972)GAG>GAA p.E324E LRRC14_uc003zdl.1_Silent_p.E324E|LRRC14_uc003zdo.2_5'Flank NM_014665 NP_055480 Q15048 LRC14_HUMAN leucine rich repeat containing 14 324 LRR 2. 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGCTGCCTGAGGACCTACGCT 0.637 NA 18 159 0 0 0 0 SMARCA2 6595 broad.mit.edu 37 9 2076291 2076291 + Missense_Mutation SNP C C A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:2076291C>A uc003zhc.2 + 13 2097 c.1998C>A c.(1996-1998)AGC>AGA p.S666R SMARCA2_uc003zhd.2_Missense_Mutation_p.S666R|SMARCA2_uc010mha.2_Missense_Mutation_p.S657R NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 666 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATCCAAATAGCGAAGAAGTTT 0.388 NA 27 51 1.89e-17 6.22e-17 1 0 TEK 7010 broad.mit.edu 37 9 27218815 27218815 + Nonsense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:27218815G>T uc003zqi.3 + 20 3545 c.3103G>T c.(3103-3105)GGA>TGA p.G1035* TEK_uc011lno.1_Nonsense_Mutation_p.G992*|TEK_uc011lnp.1_Nonsense_Mutation_p.G887* NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 1035 Protein kinase.|Cytoplasmic (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TGTTAGCTTAGGTGAGTATCT 0.463 NA 13 32 6.72e-11 2.14e-10 1 0 CCIN 881 broad.mit.edu 37 9 36170744 36170744 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:36170744C>T uc003zzb.3 + 1 1356 c.1245C>T c.(1243-1245)GGC>GGT p.G415G NM_005893 NP_005884 Q13939 CALI_HUMAN calicin 415 Kelch 3. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton ovary(1)|skin(1) 2 STAD - Stomach adenocarcinoma(86;0.228) CCATGGATGGCACCGCCGTGA 0.542 NA 29 43 0 0 0 0 TLE4 7091 broad.mit.edu 37 9 82320843 82320843 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:82320843G>C uc004ald.2 + 10 1597 c.748G>C c.(748-750)GAC>CAC p.D250H TLE4_uc004alc.2_Missense_Mutation_p.D257H|TLE4_uc010mpr.2_Missense_Mutation_p.D136H|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.D225H|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Missense_Mutation_p.D196H NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CTTGGTGGTTGACGTTTCCAA 0.398 NA 6 80 0 0 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449192 104449192 + Silent SNP G G A rs144389302 TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:104449192G>A uc004bbp.1 - 2 1591 c.990C>T c.(988-990)TGC>TGT p.C330C GRIN3A_uc004bbq.1_Silent_p.C330C NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 330 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TTTCCATGTCGCAGCCAAACA 0.527 NA 11 26 0 0 0 0 SETX 23064 broad.mit.edu 37 9 135204921 135204921 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:135204921G>A uc004cbk.2 - 10 2247 c.2064C>T c.(2062-2064)TGC>TGT p.C688C SETX_uc004cbj.2_Silent_p.C307C|SETX_uc010mzt.2_Silent_p.C307C NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 688 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) TCTGCTTTAAGCATGACCCAG 0.328 NA 25 43 0 0 0 0 RALGDS 5900 broad.mit.edu 37 9 136037789 136037789 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:136037789C>T uc011mcw.1 - 2 292 c.11G>A c.(10-12)CGG>CAG p.R4Q GBGT1_uc004ccx.2_5'UTR|GBGT1_uc010nab.2_Missense_Mutation_p.R4Q|GBGT1_uc011mcx.1_Missense_Mutation_p.R4Q|GBGT1_uc004ccw.2_Missense_Mutation_p.R4Q|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Missense_Mutation_p.R4Q NM_001042368 NP_001035827 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator Error:Variant_position_missing_in_Q12967_after_alignment nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GGCCAGTCTCCGGCGATGCAT 0.607 NA T CIITA PMBL|Hodgkin Lymphona| 5 15 0 0 0 0 SURF4 6836 broad.mit.edu 37 9 136234223 136234223 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:136234223G>A uc004cdj.2 - 2 277 c.147C>T c.(145-147)AGC>AGT p.S49S SURF4_uc011mda.1_Silent_p.S40S|SURF4_uc010nal.2_Silent_p.S81S|SURF4_uc011mdb.1_Silent_p.S6S|SURF4_uc011mdc.1_Silent_p.S6S|SURF4_uc011mdd.1_Silent_p.S49S NM_033161 NP_149351 O15260 SURF4_HUMAN surfeit 4 49 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) CGCGCTGCTCGCTCCACTGGA 0.597 NA 22 25 0 0 0 0 FCN1 2219 broad.mit.edu 37 9 137809628 137809628 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr9:137809628C>T uc004cfi.2 - 1 182 c.90G>A c.(88-90)GCG>GCA p.A30A NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 30 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GACATGTGTCCGCAGCCTGGG 0.572 NA 23 42 0 0 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157205 26157205 + Missense_Mutation SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chrX:26157205G>A uc004dbq.1 + 2 290 c.103G>A c.(103-105)GGA>AGA p.G35R NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 35 protein binding central_nervous_system(1) 1 TGTGGCAGAAGGAGAGTCACC 0.587 NA 5 15 0 0 0 0 CASK 8573 broad.mit.edu 37 X 41390289 41390289 + Silent SNP G G A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chrX:41390289G>A uc004dfl.3 - 25 2522 c.2476C>T c.(2476-2478)CTG>TTG p.L826L CASK_uc004dfj.3_Silent_p.L371L|CASK_uc004dfk.3_Silent_p.L646L|CASK_uc004dfm.3_Silent_p.L803L|CASK_uc004dfn.3_Silent_p.L802L NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 831 Guanylate kinase-like. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity ovary(3)|lung(2)|stomach(1) 6 ATTGCAATCAGCCCCTGCTCG 0.512 NA 28 12 0 0 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382277 101382277 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chrX:101382277G>T uc004eip.2 + 3 694 c.475G>T c.(475-477)GAT>TAT p.D159Y NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 AGCCATACATGATATGAATTT 0.428 NA 11 58 1.34e-11 4.3e-11 1 0 TEX13A 56157 broad.mit.edu 37 X 104464103 104464103 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chrX:104464103G>T uc004ema.2 - 5 885 c.773C>A c.(772-774)ACC>AAC p.T258N IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P259T NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 258 intracellular zinc ion binding ovary(2) 2 CCCCCAATAGGTGTACTTTTC 0.562 NA 15 5 1.15e-07 3.53e-07 1 0 GPR119 139760 broad.mit.edu 37 X 129518927 129518927 + Missense_Mutation SNP G G T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chrX:129518927G>T uc011muv.1 - 1 495 c.495C>A c.(493-495)TTC>TTA p.F165L NM_178471 NP_848566 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 165 Helical; Name=5; (Potential). integral to membrane|plasma membrane lipid binding ovary(2) 2 GGGTCAGCACGAAGTGAGGGT 0.532 NA 21 13 2.55e-18 8.44e-18 1 0 FLNA 2316 broad.mit.edu 37 X 153588903 153588903 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chrX:153588903C>T uc004fkk.2 - 22 3509 c.3260G>A c.(3259-3261)CGC>CAC p.R1087H FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.R1087H NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1087 Filamin 9. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GATGGTGAAGCGGGCGGGGGA 0.692 NA OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 14 0 0 0 0 PRDM2 7799 broad.mit.edu 37 1 14107331 14107331 + Frame_Shift_Del DEL C C - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:14107331delC uc001avi.2 + 8 3897 c.3041delC c.(3040-3042)GCCfs p.A1014fs PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Frame_Shift_Del_p.A1014fs|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Frame_Shift_Del_p.A813fs|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1014 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CTCTCAAATGCCACCGCACAG 0.632 NA 44 74 --- --- --- --- NA NA NA NA CLSPN 63967 broad.mit.edu 37 1 36226310 36226311 + Frame_Shift_Ins INS - - T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr1:36226310_36226311insT uc001bzi.2 - 8 1291_1292 c.1211_1212insA c.(1210-1212)AATfs p.N404fs CLSPN_uc009vux.2_Frame_Shift_Ins_p.N404fs NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 404 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTAGCTCTTCATTTTTTACCAA 0.436 NA 19 104 --- --- --- --- NA NA NA NA FBXO18 84893 broad.mit.edu 37 10 5958267 5958267 + Frame_Shift_Del DEL G G - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:5958267delG uc001iis.2 + 10 1731 c.1636delG c.(1636-1638)GGGfs p.G546fs FBXO18_uc001iir.2_Frame_Shift_Del_p.G472fs|FBXO18_uc009xig.2_Frame_Shift_Del_p.G472fs|FBXO18_uc001iit.2_Frame_Shift_Del_p.G597fs NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 546 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 CCTTGCTGAAGGGAAGGGTGG 0.463 NA 19 71 --- --- --- --- NA NA NA NA KIAA1217 56243 broad.mit.edu 37 10 24825815 24825817 + In_Frame_Del DEL AGA AGA - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr10:24825815_24825817delAGA uc001iru.3 + 17 3930_3932 c.3527_3529delAGA c.(3526-3531)GAGAAG>GAG p.K1178del KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_In_Frame_Del_p.K1142del|KIAA1217_uc010qcz.1_In_Frame_Del_p.K1143del|KIAA1217_uc001irw.2_In_Frame_Del_p.K861del|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_In_Frame_Del_p.K861del|KIAA1217_uc001iry.2_In_Frame_Del_p.K861del NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1178 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 CCACCCAAGGAGAAGAAGGTAAC 0.517 NA 28 40 --- --- --- --- NA NA NA NA NLRP14 338323 broad.mit.edu 37 11 7064303 7064303 + Frame_Shift_Del DEL C C - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr11:7064303delC uc001mfb.1 + 4 1369 c.1046delC c.(1045-1047)GCCfs p.A349fs NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 349 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AAGAGGTGGGCCATGAAAGTA 0.428 NA 30 48 --- --- --- --- NA NA NA NA ZMYM2 7750 broad.mit.edu 37 13 20641147 20641148 + Frame_Shift_Del DEL GA GA - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr13:20641147_20641148delGA uc001umr.2 + 21 3587_3588 c.3289_3290delGA c.(3289-3291)GAGfs p.E1097fs ZMYM2_uc001ums.2_Frame_Shift_Del_p.E1097fs|ZMYM2_uc001umt.2_Frame_Shift_Del_p.E1097fs|ZMYM2_uc001umv.2_Frame_Shift_Del_p.E477fs|ZMYM2_uc001umw.2_Frame_Shift_Del_p.E550fs NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 1097 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) GGTATTAGATGAGTTAAAATCT 0.302 NA 11 34 --- --- --- --- NA NA NA NA TRPC4 7223 broad.mit.edu 37 13 38320520 38320520 + Frame_Shift_Del DEL G G - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr13:38320520delG uc001uws.2 - 3 686 c.451delC c.(451-453)CATfs p.H151fs TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Frame_Shift_Del_p.H151fs|TRPC4_uc010tey.1_Frame_Shift_Del_p.H151fs|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Frame_Shift_Del_p.H151fs|TRPC4_uc010aby.2_Frame_Shift_Del_p.H151fs NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 151 Cytoplasmic (Potential).|ANK 4.|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTATTTGTATGGGCTGCCAAA 0.433 NA 49 111 --- --- --- --- NA NA NA NA SLC12A6 9990 broad.mit.edu 37 15 34529660 34529661 + Frame_Shift_Ins INS - - A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr15:34529660_34529661insA uc001zhw.2 - 21 3057_3058 c.2893_2894insT c.(2893-2895)TATfs p.Y965fs SLC12A6_uc001zhv.2_Frame_Shift_Ins_p.Y914fs|SLC12A6_uc001zhx.2_Frame_Shift_Ins_p.Y950fs|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_uc001zib.2_Frame_Shift_Ins_p.Y956fs|SLC12A6_uc001zic.2_Frame_Shift_Ins_p.Y965fs|SLC12A6_uc010bau.2_Frame_Shift_Ins_p.Y965fs|SLC12A6_uc001zid.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Frame_Shift_Ins_p.Y777fs NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 965 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GCGTAAGTGATATAGGAAGGTG 0.48 NA 19 41 --- --- --- --- NA NA NA NA KRT9 3857 broad.mit.edu 37 17 39726431 39726440 + Frame_Shift_Del DEL GTCCAGGAGA GTCCAGGAGA - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:39726431_39726440delGTCCAGGAGA uc002hxe.3 - 2 741_750 c.675_684delTCTCCTGGAC c.(673-684)ACTCTCCTGGACfs p.T225fs JUP_uc010wfs.1_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN keratin 9 225_228 Rod.|Coil 1B. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|pancreas(1) 3 Breast(137;0.000307) TGTTGTCAATGTCCAGGAGAGTTTTGTTGT 0.51 NA 10 334 --- --- --- --- NA NA NA NA PGS1 9489 broad.mit.edu 37 17 76396892 76396892 + Frame_Shift_Del DEL A A - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr17:76396892delA uc002jvm.2 + 6 848 c.836delA c.(835-837)GACfs p.D279fs PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_5'UTR|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_5'UTR NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 279 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) CTGCAGGGGGACGACACGGTG 0.637 NA 15 57 --- --- --- --- NA NA NA NA THSD7B 80731 broad.mit.edu 37 2 138414509 138414510 + Frame_Shift_Ins INS - - A TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr2:138414509_138414510insA uc002tva.1 + 22 4162_4163 c.4162_4163insA c.(4162-4164)CAAfs p.Q1388fs THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CAGCTGCCCCCAACAGGTTCTA 0.426 NA 51 206 --- --- --- --- NA NA NA NA NEK4 6787 broad.mit.edu 37 3 52778296 52778297 + Frame_Shift_Del DEL CT CT - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr3:52778296_52778297delCT uc003dfq.3 - 11 2041_2042 c.1852_1853delAG c.(1852-1854)AGGfs p.R618fs NEK4_uc011bej.1_Frame_Shift_Del_p.R529fs|NEK4_uc003dfr.2_Frame_Shift_Del_p.R572fs NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 618 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TAGTCGCCTCCTCTCTCTGGCT 0.406 NA 52 151 --- --- --- --- NA NA NA NA CDHR2 54825 broad.mit.edu 37 5 175995964 175995965 + Frame_Shift_Del DEL CT CT - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:175995964_175995965delCT uc003mem.1 + 5 334_335 c.268_269delCT c.(268-270)CTCfs p.L90fs CDHR2_uc003men.1_Frame_Shift_Del_p.L90fs NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 90 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GCTGCAGACACTCTACACATTC 0.644 NA 18 44 --- --- --- --- NA NA NA NA MGAT4B 11282 broad.mit.edu 37 5 179228834 179228837 + Frame_Shift_Del DEL CTTT CTTT - TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 14516d2b-47dc-4768-977b-bc3c1fe93722 b3f82016-0969-477c-8b02-18fb25524fd5 g.chr5:179228834_179228837delCTTT uc003mks.2 - 2 599_602 c.230_233delAAAG c.(229-234)GAAAGGfs p.E77fs MGAT4B_uc003mkp.2_5'Flank|MGAT4B_uc003mkq.2_5'UTR|MGAT4B_uc003mkr.2_Frame_Shift_Del_p.E92fs NM_014275 NP_055090 Q9UQ53 MGT4B_HUMAN alpha-1,3-mannosyl-glycoprotein 77_78 Potential.|Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding 0 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGCGCCTGCCTTTCTGACACGGC 0.667 NA OREG0017110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 31 --- --- --- --- NA NA NA NA