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 C8B 732 broad.mit.edu 37 1 57406638 57406638 + Nonsense_Mutation SNP G A A rs41286844 byFrequency TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:57406638G>A uc001cyp.2 - 9 1349 c.1282C>T c.(1282-1284)CGA>TGA p.R428* C8B_uc010oon.1_Nonsense_Mutation_p.R366*|C8B_uc010ooo.1_Nonsense_Mutation_p.R376* NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 428 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 GCCCCTCCTCGTACCAGGACC 0.587 HRNR 388697 broad.mit.edu 37 1 152187663 152187663 + Nonsense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:152187663G>A uc001ezt.1 - 3 6518 c.6442C>T c.(6442-6444)CGA>TGA p.R2148* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2148 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCGTGTCGTTCACCCCTA 0.587 MEF2D 4209 broad.mit.edu 37 1 156446904 156446904 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:156446904G>A uc001fpc.2 - 7 1145 c.755C>T c.(754-756)CCG>CTG p.P252L MEF2D_uc001fpb.2_Missense_Mutation_p.P252L|MEF2D_uc001fpd.2_Missense_Mutation_p.P252L|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L|MEF2D_uc009wsa.2_RNA NM_005920 NP_005911 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 252 Poly-Pro. apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGTGGGGGTGGAGACTTGGC 0.607 FCER1A 2205 broad.mit.edu 37 1 159275846 159275846 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:159275846G>A uc001ftq.2 + 5 499 c.400G>A c.(400-402)GGT>AGT p.G134S NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 134 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CAGGTGCCATGGTTGGAGGAA 0.468 DUSP27 92235 broad.mit.edu 37 1 167097485 167097485 + Silent SNP C A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:167097485C>A uc001geb.1 + 5 3117 c.3117C>A c.(3115-3117)CCC>CCA p.P1039P NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1039 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GCCCAGAGCCCTACTTCTTCC 0.587 HMCN1 83872 broad.mit.edu 37 1 185878633 185878633 + Missense_Mutation SNP T A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:185878633T>A uc001grq.1 + 5 1015 c.786T>A c.(784-786)AAT>AAA p.N262K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 262 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AAATTCGCAATCCTTTAGGTG 0.363 LAMB3 3914 broad.mit.edu 37 1 209790792 209790792 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:209790792G>A uc001hhg.2 - 20 3581 c.3191C>T c.(3190-3192)GCG>GTG p.A1064V LAMB3_uc009xco.2_Missense_Mutation_p.A1064V|LAMB3_uc001hhh.2_Missense_Mutation_p.A1064V NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 1064 Domain I.|Potential. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGCACCTTCCGCAAGCTGCTG 0.627 LAMB3 3914 broad.mit.edu 37 1 209801465 209801465 + Missense_Mutation SNP G C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:209801465G>C uc001hhg.2 - 10 1593 c.1203C>G c.(1201-1203)TGC>TGG p.C401W LAMB3_uc009xco.2_Missense_Mutation_p.C401W|LAMB3_uc001hhh.2_Missense_Mutation_p.C401W|LAMB3_uc010psl.1_RNA NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 401 Laminin EGF-like 3. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CATGCTCCTTGCACACACACT 0.642 OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C1orf107 27042 broad.mit.edu 37 1 210001468 210001468 + Missense_Mutation SNP G C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:210001468G>C uc001hhr.1 + 1 136 c.60G>C c.(58-60)CAG>CAC p.Q20H C1orf107_uc009xcu.1_5'UTR NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 20 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) CTAAAAAGCAGAAGAAACATC 0.547 OREG0014221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C1orf107 27042 broad.mit.edu 37 1 210001493 210001493 + Nonsense_Mutation SNP G T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:210001493G>T uc001hhr.1 + 1 161 c.85G>T c.(85-87)GAG>TAG p.E29* C1orf107_uc009xcu.1_5'UTR NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 29 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) AGATTTCGGCGAGGAGCATCC 0.547 OREG0014221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PGBD2 267002 broad.mit.edu 37 1 249212387 249212387 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:249212387G>A uc001ifh.2 + 3 1751 c.1604G>A c.(1603-1605)GGG>GAG p.G535E PGBD2_uc001ifg.2_Missense_Mutation_p.G284E|PGBD2_uc009xhd.2_Missense_Mutation_p.G532E NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 535 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACATCTCAAGGGAGGCGAAGC 0.547 PGBD2 267002 broad.mit.edu 37 1 249212544 249212544 + Missense_Mutation SNP G T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr1:249212544G>T uc001ifh.2 + 3 1908 c.1761G>T c.(1759-1761)AGG>AGT p.R587S PGBD2_uc001ifg.2_Missense_Mutation_p.R336S|PGBD2_uc009xhd.2_Missense_Mutation_p.R584S NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 587 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AATGCTTCAGGGAGTACCACA 0.478 LBX1 10660 broad.mit.edu 37 10 102987489 102987489 + Silent SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr10:102987489C>T uc001ksx.2 - 2 529 c.384G>A c.(382-384)TCG>TCA p.S128S uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 128 Homeobox. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) AGGCCGTGCGCGACTTTCGCC 0.587 OR52B2 255725 broad.mit.edu 37 11 6190634 6190634 + Missense_Mutation SNP C T T rs147668114 by1000genomes TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr11:6190634C>T uc010qzy.1 - 1 923 c.923G>A c.(922-924)CGG>CAG p.R308Q NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCAAAGAACCGGTGGGCTAC 0.478 INSC 387755 broad.mit.edu 37 11 15260573 15260573 + Missense_Mutation SNP G C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr11:15260573G>C uc001mly.2 + 11 1533 c.1487G>C c.(1486-1488)CGT>CCT p.R496P INSC_uc001mlz.2_Missense_Mutation_p.R449P|INSC_uc001mma.2_Missense_Mutation_p.R449P|INSC_uc010rcs.1_Missense_Mutation_p.R484P|INSC_uc001mmb.2_Missense_Mutation_p.R449P|INSC_uc001mmc.2_Missense_Mutation_p.R407P NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 496 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 ACCCTGGCTCGTCTCAGCCGA 0.607 HIPK3 10114 broad.mit.edu 37 11 33362619 33362619 + Missense_Mutation SNP C A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr11:33362619C>A uc001mul.1 + 7 1989 c.1719C>A c.(1717-1719)AGC>AGA p.S573R HIPK3_uc001mum.1_Missense_Mutation_p.S573R|HIPK3_uc009yjv.1_Missense_Mutation_p.S573R NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 573 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 TTGCTTCAAGCAGTACTGCTA 0.318 DGKZ 8525 broad.mit.edu 37 11 46393049 46393049 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr11:46393049G>A uc001ncn.1 + 9 1344 c.1219G>A c.(1219-1221)GTG>ATG p.V407M DGKZ_uc001nch.1_Missense_Mutation_p.V235M|DGKZ_uc010rgq.1_Missense_Mutation_p.V162M|DGKZ_uc001ncj.1_Missense_Mutation_p.V185M|DGKZ_uc010rgr.1_Missense_Mutation_p.V184M|DGKZ_uc001nck.1_Translation_Start_Site|DGKZ_uc001ncl.2_Missense_Mutation_p.V219M|DGKZ_uc001ncm.2_Missense_Mutation_p.V218M|DGKZ_uc009yky.1_Missense_Mutation_p.V219M|DGKZ_uc010rgs.1_Missense_Mutation_p.V196M NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 407 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCACAGCAAGGTGTCCTGCTT 0.701 PEX5 5830 broad.mit.edu 37 12 7343512 7343512 + Missense_Mutation SNP A G G TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr12:7343512A>G uc009zfu.1 + 4 756 c.176A>G c.(175-177)GAA>GGA p.E59G PEX5_uc001qsw.2_Missense_Mutation_p.E59G|PEX5_uc010sgc.1_Missense_Mutation_p.E74G|PEX5_uc001qsu.2_Missense_Mutation_p.E59G|PEX5_uc010sgd.1_Missense_Mutation_p.E80G|PEX5_uc001qsv.2_Missense_Mutation_p.E59G NM_001131026 NP_001124498 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 isoform d 59 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding ovary(1) 1 GTAGCTTCTGAAGATGAGGTA 0.428 CD163 9332 broad.mit.edu 37 12 7651670 7651670 + Missense_Mutation SNP T A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr12:7651670T>A uc001qsz.3 - 4 700 c.572A>T c.(571-573)GAT>GTT p.D191V CD163_uc001qta.3_Missense_Mutation_p.D191V|CD163_uc009zfw.2_Missense_Mutation_p.D191V NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 191 SRCR 2.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 AGATGCATGATCTATGTTGAA 0.428 METTL7A 25840 broad.mit.edu 37 12 51319018 51319018 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr12:51319018C>T uc001rxb.2 + 1 485 c.197C>T c.(196-198)GCG>GTG p.A66V METTL7A_uc010smv.1_Missense_Mutation_p.A66V NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 66 endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 CAGGAGTTTGCGGGCCCCTCC 0.552 TRHDE 29953 broad.mit.edu 37 12 73056901 73056901 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr12:73056901G>A uc001sxa.2 + 19 3031 c.3001G>A c.(3001-3003)GAA>AAA p.E1001K NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 1001 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GGAAACTGTCGAAGCCAATGT 0.373 NAP1L1 4673 broad.mit.edu 37 12 76447581 76447581 + Missense_Mutation SNP A C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr12:76447581A>C uc001sxw.2 - 9 1151 c.739T>G c.(739-741)TTT>GTT p.F247V NAP1L1_uc001sxv.2_Missense_Mutation_p.F205V|NAP1L1_uc001sxz.2_Missense_Mutation_p.F178V|NAP1L1_uc001sxx.2_Missense_Mutation_p.F247V|NAP1L1_uc001sxy.2_Missense_Mutation_p.F184V|NAP1L1_uc010sty.1_Missense_Mutation_p.F204V|NAP1L1_uc010stz.1_Missense_Mutation_p.F64V|NAP1L1_uc010sua.1_Missense_Mutation_p.F247V|NAP1L1_uc001syb.2_Missense_Mutation_p.F247V|NAP1L1_uc001sya.2_Missense_Mutation_p.F205V|NAP1L1_uc001syc.2_Missense_Mutation_p.F258V NM_139207 NP_631946 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 247 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding ovary(1)|skin(1) 2 Colorectal(145;0.09) GGTCCATCAAAAGAAAAGGGA 0.333 CRY1 1407 broad.mit.edu 37 12 107393552 107393552 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr12:107393552C>T uc001tmi.3 - 7 1773 c.914G>A c.(913-915)CGC>CAC p.R305H NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 305 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 TTTATCAAAGCGTGGATTATT 0.433 PCDH9 5101 broad.mit.edu 37 13 67802035 67802035 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr13:67802035C>T uc001vik.2 - 2 1230 c.538G>A c.(538-540)GAA>AAA p.E180K PCDH9_uc001vil.2_Missense_Mutation_p.E180K|PCDH9_uc010thl.1_Missense_Mutation_p.E180K|PCDH9_uc001vin.3_Missense_Mutation_p.E180K NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 180 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTTAACAATTCATAATGCTGT 0.423 FOXA1 3169 broad.mit.edu 37 14 38060635 38060635 + Missense_Mutation SNP G C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr14:38060635G>C uc001wuf.2 - 2 1666 c.1354C>G c.(1354-1356)CCC>GCC p.P452A FOXA1_uc010tpz.1_Missense_Mutation_p.P419A NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 452 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) AGGGCTGAGGGCTCGATGGGG 0.617 LPCAT4 254531 broad.mit.edu 37 15 34653631 34653631 + Silent SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr15:34653631C>T uc001zig.2 - 11 1207 c.1113G>A c.(1111-1113)ACG>ACA p.T371T NM_153613 NP_705841 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 371 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding 0 CACCAGCCACCGTCTGAGGAT 0.587 ITGA11 22801 broad.mit.edu 37 15 68612685 68612685 + Silent SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr15:68612685G>A uc002ari.2 - 20 2541 c.2454C>T c.(2452-2454)TCC>TCT p.S818S ITGA11_uc010bib.2_Silent_p.S818S NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 818 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) GCGTGTATGCGGAGCAGTCCT 0.592 SETD1A 9739 broad.mit.edu 37 16 30976386 30976386 + Silent SNP T C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr16:30976386T>C uc002ead.1 + 7 2009 c.1323T>C c.(1321-1323)GGT>GGC p.G441G NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 441 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CAGAACCTGGTGGAGGCGGGG 0.716 PRSS36 146547 broad.mit.edu 37 16 31159857 31159857 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr16:31159857C>T uc002ebd.2 - 5 471 c.412G>A c.(412-414)GCC>ACC p.A138T PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Missense_Mutation_p.A138T|PRSS36_uc010vfh.1_Missense_Mutation_p.A138T NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 138 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 GCCAGGTCGGCGCCCAGCTCC 0.756 POLR2A 5430 broad.mit.edu 37 17 7399844 7399844 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr17:7399844G>A uc002ghf.3 + 4 683 c.449G>A c.(448-450)GGC>GAC p.G150D POLR2A_uc002ghe.2_Missense_Mutation_p.G150D NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 150 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) CTTTGCAAGGGCAAAAACATA 0.537 KIAA0100 9703 broad.mit.edu 37 17 26967617 26967617 + Missense_Mutation SNP T C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr17:26967617T>C uc002hbu.2 - 8 950 c.851A>G c.(850-852)GAG>GGG p.E284G KIAA0100_uc002hbv.2_Missense_Mutation_p.E284G|KIAA0100_uc010crr.1_Missense_Mutation_p.E141G NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 284 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GCTTGTGTTCTCCATCTTAAC 0.463 TUBG1 7283 broad.mit.edu 37 17 40766544 40766544 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr17:40766544C>T uc002ian.2 + 10 1425 c.1027C>T c.(1027-1029)CGC>TGC p.R343C NM_001070 NP_001061 P23258 TBG1_HUMAN tubulin, gamma 1 343 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) GATCCGGGAACGCAAGTTGGC 0.657 TNFRSF11A 8792 broad.mit.edu 37 18 60021766 60021766 + Silent SNP G A A rs139968917 TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr18:60021766G>A uc002lin.2 + 4 464 c.426G>A c.(424-426)CCG>CCA p.P142P TNFRSF11A_uc010dpv.2_Silent_p.P142P NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 142 Extracellular (Potential).|TNFR-Cys 3. adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) CCCAGCACCCGTGTACGGGTT 0.647 Paget_Disease_of_Bone MUC16 94025 broad.mit.edu 37 19 8962003 8962003 + Silent SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr19:8962003G>A uc002mkp.2 - 83 43578 c.43374C>T c.(43372-43374)ATC>ATT p.I14458I MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.I1258I|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGCCAAGCCGATGAGGATGA 0.502 LPPR2 64748 broad.mit.edu 37 19 11472001 11472001 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr19:11472001C>T uc002mre.1 + 6 837 c.500C>T c.(499-501)ACG>ATG p.T167M LPPR2_uc002mrf.1_Missense_Mutation_p.T142M|LPPR2_uc010dxy.1_Translation_Start_Site NM_022737 NP_073574 Q96GM1 LPPR2_HUMAN lipid phosphate phosphatase-related protein type 167 integral to membrane phosphatidate phosphatase activity large_intestine(1) 1 CCCAACTACACGGCCCTGGGC 0.682 CYP4F8 11283 broad.mit.edu 37 19 15726591 15726591 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr19:15726591G>A uc002nbi.2 + 2 228 c.164G>A c.(163-165)CGG>CAG p.R55Q CYP4F8_uc010xoi.1_Missense_Mutation_p.R55Q|CYP4F8_uc010xoj.1_Missense_Mutation_p.G17R NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 55 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CCGCAGCCCCGGAAACAGAAC 0.642 PIK3R2 5296 broad.mit.edu 37 19 18277106 18277106 + Frame_Shift_Del DEL T - - TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr19:18277106delT uc002nia.1 + 12 2065 c.1553delT c.(1552-1554)ATGfs p.M518fs PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 518 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 GAGAAAGAGATGCAAAGGTGA 0.428 KIRREL2 84063 broad.mit.edu 37 19 36351843 36351843 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr19:36351843G>A uc002ocb.3 + 8 1173 c.961G>A c.(961-963)GTG>ATG p.V321M KIRREL2_uc002obz.3_Missense_Mutation_p.V321M|KIRREL2_uc002oca.3_Missense_Mutation_p.V271M|KIRREL2_uc002occ.3_Missense_Mutation_p.V268M|KIRREL2_uc002ocd.3_Missense_Mutation_p.V318M NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 321 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCGGAGCCCGTGTCCGTGGA 0.672 SLC17A7 57030 broad.mit.edu 37 19 49934369 49934369 + Missense_Mutation SNP G A A rs17855709 TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr19:49934369G>A uc002pnp.2 - 11 1464 c.1292C>T c.(1291-1293)CCG>CTG p.P431L SLC17A7_uc002pno.2_Missense_Mutation_p.P93L NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 431 Cytoplasmic (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGCGTAGCGCGGGGCTATGTC 0.607 HK2 3099 broad.mit.edu 37 2 75081480 75081480 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr2:75081480C>T uc002snd.2 + 2 2050 c.124C>T c.(124-126)CGG>TGG p.R42W NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 42 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GATCTCTAAGCGGTTCCGCAA 0.512 UGGT1 56886 broad.mit.edu 37 2 128944331 128944331 + Nonsense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr2:128944331G>A uc002tps.2 + 39 4612 c.4434G>A c.(4432-4434)TGG>TGA p.W1478* UGGT1_uc002tpr.2_Nonsense_Mutation_p.W1454* NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1478 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 GTGAAACGTGGTGTGATGACG 0.413 TTN 7273 broad.mit.edu 37 2 179571370 179571370 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr2:179571370C>T uc010zfg.1 - 99 25723 c.25499G>A c.(25498-25500)CGT>CAT p.R8500H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5161H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9427 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATGAAAACACGACCTCCTTG 0.443 AQP12B 653437 broad.mit.edu 37 2 241621969 241621969 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr2:241621969C>T uc010fzj.2 - 1 349 c.286G>A c.(286-288)GTG>ATG p.V96M AQP12B_uc002vzt.2_Intron NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN aquaporin 12B 84 integral to membrane transporter activity 0 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) TGCAGGGACACGGTGGGGTTG 0.687 SULF2 55959 broad.mit.edu 37 20 46386007 46386007 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr20:46386007C>T uc002xto.2 - 2 431 c.101G>A c.(100-102)AGG>AAG p.R34K SULF2_uc002xtr.2_Missense_Mutation_p.R34K|SULF2_uc002xtq.2_Missense_Mutation_p.R34K|SULF2_uc010ghv.1_Missense_Mutation_p.R34K NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 34 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCTCTGAAACCTGCCTTTCAG 0.647 SLCO4A1 28231 broad.mit.edu 37 20 61291766 61291766 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr20:61291766C>T uc002ydb.1 + 4 1095 c.890C>T c.(889-891)ACG>ATG p.T297M SLCO4A1_uc002ydc.1_RNA NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 297 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) TTCCACAGGACGGAGCTGACC 0.687 KRTAP10-5 386680 broad.mit.edu 37 21 46000294 46000294 + Silent SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr21:46000294C>T uc002zfl.1 - 1 188 c.162G>A c.(160-162)GCG>GCA p.A54A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 54 22 X 5 AA repeats of C-C-X(3).|2. keratin filament 0 GCTCACAGGCCGCCTGGCAGC 0.493 C1QTNF6 114904 broad.mit.edu 37 22 37581311 37581311 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr22:37581311C>T uc003aqw.1 - 1 684 c.179G>A c.(178-180)CGC>CAC p.R60H C1QTNF6_uc003aqx.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqz.1_RNA NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 60 collagen 0 GGCGTGGGGGCGGCCGGAGGA 0.632 DCLK3 85443 broad.mit.edu 37 3 36779774 36779774 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr3:36779774C>T uc003cgi.2 - 2 868 c.377G>A c.(376-378)GGG>GAG p.G126E NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 126 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 AATCTCCACCCCAAGATGCTT 0.567 SLC6A20 54716 broad.mit.edu 37 3 45801400 45801400 + Silent SNP G A A rs143985135 TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr3:45801400G>A uc011bai.1 - 10 1702 c.1578C>T c.(1576-1578)AGC>AGT p.S526S SLC6A20_uc003cow.2_Silent_p.S176S|SLC6A20_uc011baj.1_Silent_p.S489S NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 526 Extracellular (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) GGATGTAGTCGCTCAGGTAGA 0.592 NIT2 56954 broad.mit.edu 37 3 100057936 100057936 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr3:100057936C>T uc003dtv.2 + 2 87 c.13C>T c.(13-15)CGC>TGC p.R5C NIT2_uc011bha.1_Missense_Mutation_p.R5C NM_020202 NP_064587 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 5 CN hydrolase. nitrogen compound metabolic process omega-amidase activity ovary(1) 1 CTCAGCTTTCCGCTTGGCCCT 0.403 DLG1 1739 broad.mit.edu 37 3 196921382 196921382 + Missense_Mutation SNP C G G TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr3:196921382C>G uc003fxo.3 - 5 587 c.397G>C c.(397-399)GAA>CAA p.E133Q DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.E133Q|DLG1_uc011bue.1_Missense_Mutation_p.E133Q|DLG1_uc010ial.2_Missense_Mutation_p.E133Q|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.E133Q NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 133 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TGAACCAATTCTGGACCTATC 0.353 SLIT2 9353 broad.mit.edu 37 4 20543202 20543202 + Silent SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr4:20543202C>T uc003gpr.1 + 20 2307 c.2103C>T c.(2101-2103)CCC>CCT p.P701P SLIT2_uc003gps.1_Silent_p.P693P NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 701 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AAGAAATACCCATCCAGGATG 0.443 N4BP2 55728 broad.mit.edu 37 4 40119548 40119548 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr4:40119548G>A uc003guy.3 + 8 2062 c.1724G>A c.(1723-1725)CGT>CAT p.R575H N4BP2_uc010ifq.2_Missense_Mutation_p.R495H|N4BP2_uc010ifr.2_Missense_Mutation_p.R495H NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 575 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CATTATCAACGTTTTGTTTCA 0.363 PCDH10 57575 broad.mit.edu 37 4 134084209 134084209 + Missense_Mutation SNP G T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr4:134084209G>T uc003iha.2 + 4 3701 c.2875G>T c.(2875-2877)GTC>TTC p.V959F NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 959 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GCCTTCTTTTGTCCCTTCTGA 0.488 DCLK2 166614 broad.mit.edu 37 4 151170830 151170830 + Silent SNP C G G TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr4:151170830C>G uc003ilm.3 + 15 2167 c.2067C>G c.(2065-2067)GTC>GTG p.V689V DCLK2_uc003iln.3_Silent_p.V688V|DCLK2_uc003ilo.3_Silent_p.V706V|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 689 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) GGGTCTCCGTCATCATGGTGA 0.532 AP3S1 1176 broad.mit.edu 37 5 115177778 115177778 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr5:115177778G>A uc003krl.2 + 1 160 c.44G>A c.(43-45)CGG>CAG p.R15Q AP3S1_uc003krk.2_5'UTR|AP3S1_uc003krm.2_Missense_Mutation_p.R15Q|ATG12_uc003krh.2_5'Flank|ATG12_uc003kri.2_5'Flank|ATG12_uc003krj.2_5'Flank NM_001284 NP_001275 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 15 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) GGGAAGCCGCGGCTCTCCAAG 0.692 DOCK2 1794 broad.mit.edu 37 5 169506008 169506008 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr5:169506008C>T uc003maf.2 + 49 5104 c.5024C>T c.(5023-5025)ACG>ATG p.T1675M DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.T1167M|DOCK2_uc003mah.2_Missense_Mutation_p.T231M NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1675 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCACCCAAGACGCCGAGAGTG 0.557 ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Frame_Shift_Del DEL T - - TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr6:52883129delT uc003pbh.2 - 8 1152 c.662delA c.(661-663)AAGfs p.K221fs ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN intestinal cell kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1) 5 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 WDR27 253769 broad.mit.edu 37 6 170036474 170036474 + Missense_Mutation SNP T C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr6:170036474T>C uc003qwx.2 - 19 2516 c.1996A>G c.(1996-1998)ATT>GTT p.I666V WDR27_uc003qwv.1_Intron|WDR27_uc010kkw.1_Missense_Mutation_p.I666V|WDR27_uc003qwy.2_Missense_Mutation_p.I539V A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; 636 pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) TACCTCTTAATCTCATCTTTG 0.378 FAM126A 84668 broad.mit.edu 37 7 23023600 23023600 + Nonsense_Mutation SNP G T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr7:23023600G>T uc003svm.3 - 3 371 c.116C>A c.(115-117)TCA>TAA p.S39* FAM126A_uc003svn.3_5'UTR|FAM126A_uc011jyr.1_Intron NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 39 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 ATAGAGAGATGAAACTAAAGA 0.259 MUC17 140453 broad.mit.edu 37 7 100683180 100683180 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr7:100683180G>A uc003uxp.1 + 3 8536 c.8483G>A c.(8482-8484)GGC>GAC p.G2828D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2828 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCTGAGGCTGGCACCCTTTCA 0.498 ARFGEF1 10565 broad.mit.edu 37 8 68140317 68140317 + Missense_Mutation SNP T C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr8:68140317T>C uc003xxo.1 - 25 3862 c.3472A>G c.(3472-3474)ACG>GCG p.T1158A ARFGEF1_uc003xxl.1_Missense_Mutation_p.T612A|ARFGEF1_uc003xxn.1_Missense_Mutation_p.T141A NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1158 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGGTGTGTCGTGGAAAGTAAT 0.318 SLC39A4 55630 broad.mit.edu 37 8 145642115 145642115 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr8:145642115G>A uc003zcq.2 - 1 159 c.59C>T c.(58-60)GCG>GTG p.A20V SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_5'Flank NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 20 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) GGACGCCGTCGCCGTCACCAC 0.662 WASH5P 375690 broad.mit.edu 37 9 17147 17147 + Missense_Mutation SNP T C C TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr9:17147T>C uc010mgm.1 - 7 844 c.701A>G c.(700-702)TAT>TGT p.Y234C WASH5P_uc003zfr.2_RNA|WASH5P_uc011llq.1_RNA|WASH5P_uc003zfu.1_Missense_Mutation_p.Y247C NM_182905 NP_878908 WAS protein family homolog 1 0 GTCTGGCACATAGAAGTAGTT 0.587 PAPPA 5069 broad.mit.edu 37 9 118997909 118997909 + Missense_Mutation SNP G A A TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr9:118997909G>A uc004bjn.2 + 7 3106 c.2725G>A c.(2725-2727)GTA>ATA p.V909I PAPPA_uc011lxp.1_Missense_Mutation_p.V604I|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 909 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TAGGAAATTCGTAGACATGTA 0.517 LAMC3 10319 broad.mit.edu 37 9 133907535 133907535 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chr9:133907535C>T uc004caa.1 + 3 880 c.782C>T c.(781-783)GCC>GTC p.A261V NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 261 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TACTATTATGCCGTGTCCGAC 0.612 GABRQ 55879 broad.mit.edu 37 X 151820044 151820044 + Silent SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chrX:151820044C>T uc004ffp.1 + 8 977 c.957C>T c.(955-957)CTC>CTT p.L319L NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 319 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGGATAAGCTCCCCAACATTT 0.448 PCDH11Y 83259 broad.mit.edu 37 Y 5605715 5605715 + Missense_Mutation SNP C T T TCGA-27-2523-01A-01D-1494-08 TCGA-27-2523-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx d60f54f5-b154-42c4-99fb-cea4e7a33dc7 28ea912e-e998-458c-879e-38d55938a2fb g.chrY:5605715C>T uc004fqo.2 + 5 4489 c.3755C>T c.(3754-3756)TCT>TTT p.S1252F NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 1252 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 AGCCACAGCTCTTCTCTGCCA 0.552