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 MEGF6 1953 broad.mit.edu 37 1 3418409 3418409 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:3418409C>G uc001akl.2 - 18 2492 c.2265G>C c.(2263-2265)ACG>ACC p.T755T MEGF6_uc001akk.2_Silent_p.T650T NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 755 EGF-like 12. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GGCACTGCCCCGTGACCCCGT 0.706 NA 15 27 0 0 0 0 PER3 8863 broad.mit.edu 37 1 7895935 7895935 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:7895935G>A uc001aoo.2 + 19 3476 c.3301G>A c.(3301-3303)GAA>AAA p.E1101K PER3_uc001aop.2_Missense_Mutation_p.E1110K|PER3_uc010nzw.1_Missense_Mutation_p.E790K NM_016831 NP_058515 P56645 PER3_HUMAN period 3 1101 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TAATGTCGCCGAAGAGCCCAT 0.418 NA 21 35 0 0 0 0 RIMS3 9783 broad.mit.edu 37 1 41094945 41094945 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:41094945G>C uc001cfu.1 - 6 1041 c.572C>G c.(571-573)CCA>CGA p.P191R RIMS3_uc001cfv.1_Missense_Mutation_p.P191R NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 191 C2. neurotransmitter transport cell junction|synapse 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) TCCCTCACCTGGGAGGGATTT 0.592 NA 32 110 0 0 0 0 RNF220 55182 broad.mit.edu 37 1 44878355 44878355 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:44878355C>T uc001clv.1 + 2 946 c.586C>T c.(586-588)CGG>TGG p.R196W RNF220_uc001clw.1_Missense_Mutation_p.R196W NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 196 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CATTTCTGATCGGGAAGCCTC 0.512 NA 46 92 0 0 0 0 SSBP3 23648 broad.mit.edu 37 1 54722843 54722843 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:54722843C>T uc001cxe.2 - 7 762 c.464G>A c.(463-465)CGA>CAA p.R155Q SSBP3_uc001cxf.2_Intron|SSBP3_uc001cxg.2_Missense_Mutation_p.R128Q NM_145716 NP_663768 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 isoform a 155 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding 0 GCCTGCGTATCGCGGTGACAT 0.522 NA 7 21 0 0 0 0 DAB1 1600 broad.mit.edu 37 1 57610988 57610988 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:57610988C>T uc001cys.1 - 5 856 c.182G>A c.(181-183)TGT>TAT p.C61Y DAB1_uc001cyt.1_Missense_Mutation_p.C61Y|DAB1_uc001cyq.1_Missense_Mutation_p.C61Y|DAB1_uc001cyr.1_Missense_Mutation_p.C61Y|DAB1_uc009vzw.1_Missense_Mutation_p.C61Y|DAB1_uc009vzx.1_Missense_Mutation_p.C61Y NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 61 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 GGAATCTTGACATAACTTGTC 0.393 NA 15 65 0 0 0 0 IL12RB2 3595 broad.mit.edu 37 1 67861293 67861294 + Missense_Mutation DNP CC CC AA TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:67861293_67861294CC>AA uc001ddu.2 + 16 2750_2751 c.2110_2111CC>AA c.(2110-2112)CCG>AAG p.P704K IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.P618K|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 704 Cytoplasmic (Potential). positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 AGATCCTGAACCGCTGGTCATC 0.54 NA 17 60 0 0 0 0 IFI44L 10964 broad.mit.edu 37 1 79093945 79093945 + Silent SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:79093945T>C uc010oro.1 + 2 524 c.345T>C c.(343-345)CGT>CGC p.R115R IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 115 cytoplasm 0 TGGTGTGTCGTTTATCGAAAA 0.313 NA 8 26 0 0 0 0 ELTD1 64123 broad.mit.edu 37 1 79385874 79385874 + Silent SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:79385874A>T uc001diq.3 - 10 1611 c.1455T>A c.(1453-1455)ACT>ACA p.T485T NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 485 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATACCTTATTAGTATTTGTAT 0.313 NA 10 18 0 0 0 0 COL24A1 255631 broad.mit.edu 37 1 86210435 86210435 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:86210435T>C uc001dlj.2 - 57 4628 c.4586A>G c.(4585-4587)CAC>CGC p.H1529R COL24A1_uc001dli.2_Missense_Mutation_p.H644R|COL24A1_uc010osd.1_Missense_Mutation_p.H829R|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1529 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTTGATGCTGTGCAATAAATT 0.388 NA 23 63 0 0 0 0 PKN2 5586 broad.mit.edu 37 1 89271325 89271325 + Silent SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:89271325A>T uc001dmn.2 + 11 1989 c.1647A>T c.(1645-1647)GTA>GTT p.V549V PKN2_uc001dmm.1_Silent_p.V549V|PKN2_uc010osp.1_Silent_p.V533V|PKN2_uc010osq.1_Silent_p.V392V|PKN2_uc009wcv.2_Silent_p.V501V|PKN2_uc010osr.1_Silent_p.V214V NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 549 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TGGTTGATGTACGCATCCCTC 0.448 NA 5 32 0 0 0 0 ABCD3 5825 broad.mit.edu 37 1 94964203 94964203 + Nonsense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:94964203G>T uc001dqn.3 + 17 1534 c.1432G>T c.(1432-1434)GGA>TGA p.G478* ABCD3_uc010oto.1_Nonsense_Mutation_p.G502*|ABCD3_uc010otp.1_Nonsense_Mutation_p.G405*|ABCD3_uc009wdr.2_Nonsense_Mutation_p.G368*|ABCD3_uc001dqo.3_Nonsense_Mutation_p.G166* NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 478 ATP (Potential).|ABC transporter. G->R: Decreased ATP-binding affinity. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) AAATGGCTGCGGAAAGAGTTC 0.343 NA 11 43 5.51e-06 6.36e-06 1 0 OLFM3 118427 broad.mit.edu 37 1 102290738 102290738 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:102290738C>A uc001duf.2 - 4 567 c.496G>T c.(496-498)GAT>TAT p.D166Y OLFM3_uc001dug.2_Missense_Mutation_p.D146Y|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.D71Y|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 166 Potential. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AACTTAGCATCTGTTTTGTAC 0.448 NA 10 35 1.59e-06 1.87e-06 1 0 COL11A1 1301 broad.mit.edu 37 1 103354181 103354182 + Missense_Mutation DNP GG GG TT TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:103354181_103354182GG>TT uc001dul.2 - 62 4877_4878 c.4559_4560CC>AA c.(4558-4560)CCC>CAA p.P1520Q COL11A1_uc001duk.2_Missense_Mutation_p.P716Q|COL11A1_uc001dum.2_Missense_Mutation_p.P1532Q|COL11A1_uc001dun.2_Missense_Mutation_p.P1481Q|COL11A1_uc009weh.2_Missense_Mutation_p.P1404Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1520 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) TCTGGCCAGCGGGTCCCTGTTA 0.416 NA 8 36 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103468025 103468025 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:103468025C>G uc001dul.2 - 23 2374 c.2056G>C c.(2056-2058)GAG>CAG p.E686Q COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E698Q|COL11A1_uc001dun.2_Missense_Mutation_p.E647Q|COL11A1_uc009weh.2_Missense_Mutation_p.E570Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 686 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) GGCCCAGGCTCCCCTTGGGGA 0.438 NA 4 8 0 0 0 0 DDX20 11218 broad.mit.edu 37 1 112305593 112305593 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:112305593G>C uc001ebs.2 + 10 1633 c.1276G>C c.(1276-1278)GCC>CCC p.A426P DDX20_uc010owf.1_Missense_Mutation_p.A188P|DDX20_uc001ebt.2_Missense_Mutation_p.A34P NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 426 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGAGAATTGCCCAGAAATG 0.353 NA 18 37 0 0 0 0 LASS2 29956 broad.mit.edu 37 1 150938997 150938997 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:150938997C>G uc001evy.2 - 10 1344 c.957G>C c.(955-957)TGG>TGC p.W319C LASS2_uc001evz.2_Missense_Mutation_p.W319C|LASS2_uc009wmh.2_Missense_Mutation_p.W169C NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 319 TLC.|Helical; (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) TGAGGTAGGCCCAGAAGATAT 0.478 NA 17 57 0 0 0 0 IVL 3713 broad.mit.edu 37 1 152883955 152883955 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:152883955C>G uc001fau.2 + 2 1728 c.1682C>G c.(1681-1683)ACA>AGA p.T561R NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 561 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCCTGCCCACAAAGGGAGAA 0.438 NA 16 59 0 0 0 0 DENND4B 9909 broad.mit.edu 37 1 153914360 153914360 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:153914360C>G uc001fdd.1 - 6 1441 c.1040G>C c.(1039-1041)CGC>CCC p.R347P NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 347 DENN. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAAGGGTAGGCGGTGGGGGCC 0.632 NA 11 51 0 0 0 0 FCRL3 115352 broad.mit.edu 37 1 157659664 157659664 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:157659664C>T uc001frb.2 - 10 2026 c.1734G>A c.(1732-1734)ACG>ACA p.T578T FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.T578T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.T304T|FCRL3_uc001frc.1_Silent_p.T578T NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 578 Helical; (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) GCACCAGCCCCGTGATTCCCG 0.562 NA 15 40 0 0 0 0 UAP1 6675 broad.mit.edu 37 1 162557316 162557316 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:162557316G>A uc001gce.3 + 6 1215 c.886G>A c.(886-888)GAT>AAT p.D296N NM_003115 NP_003106 Q16222 UAP1_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 296 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity ovary(2)|skin(2)|kidney(1) 5 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TTGCCGAGTGGATGGAGTTTA 0.463 NA 29 99 0 0 0 0 NUF2 83540 broad.mit.edu 37 1 163317627 163317627 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:163317627C>T uc001gcq.1 + 12 1323 c.1023C>T c.(1021-1023)TTC>TTT p.F341F NUF2_uc001gcr.1_Silent_p.F341F|NUF2_uc009wvc.1_Silent_p.F294F NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 341 Interaction with the N-terminus of NDC80.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) AAAATTCGTTCAAAAGACTGA 0.338 NA 14 46 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671756 176671756 + Nonsense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:176671756G>T uc001gkz.2 + 9 4414 c.3250G>T c.(3250-3252)GGA>TGA p.G1084* PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1084 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GGTCACACCTGGACAGATGTA 0.502 NA 13 35 4.38e-07 5.22e-07 1 0 PAPPA2 60676 broad.mit.edu 37 1 176675542 176675542 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:176675542G>C uc001gkz.2 + 10 4577 c.3413G>C c.(3412-3414)GGC>GCC p.G1138A PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1138 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGCGGAGATGGCTGCTCCAAG 0.403 NA 6 33 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709164 176709164 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:176709164C>G uc001gkz.2 + 14 5147 c.3983C>G c.(3982-3984)ACC>AGC p.T1328S PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1328 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ATCAATGTGACCCATCACCAG 0.463 NA 22 81 0 0 0 0 CEP350 9857 broad.mit.edu 37 1 180034395 180034395 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:180034395G>T uc001gnt.2 + 27 5938 c.5555G>T c.(5554-5556)CGC>CTC p.R1852L CEP350_uc009wxl.2_Missense_Mutation_p.R1851L NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1852 centrosome|nucleus|spindle ovary(4) 4 ATGAGAAGCCGCATGGATGAA 0.358 NA 7 19 0.000157383 0.000175665 1 0 HMCN1 83872 broad.mit.edu 37 1 186060049 186060049 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:186060049G>T uc001grq.1 + 64 10116 c.9887G>T c.(9886-9888)CGA>CTA p.R3296L NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3296 Ig-like C2-type 31. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAAAGAATCCGGTATGTTTAA 0.353 NA 9 30 3.1e-07 3.7e-07 1 0 HMCN1 83872 broad.mit.edu 37 1 186094925 186094925 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:186094925T>C uc001grq.1 + 82 12918 c.12689T>C c.(12688-12690)GTG>GCG p.V4230A HMCN1_uc001grs.1_5'Flank NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4230 Ig-like C2-type 41. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAAAATGTTGTGGTAAGTTTA 0.303 NA 16 21 0 0 0 0 CFH 3075 broad.mit.edu 37 1 196697650 196697650 + Nonsense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:196697650C>A uc001gtj.3 + 15 2651 c.2411C>A c.(2410-2412)TCA>TAA p.S804* NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 804 Sushi 13. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GTGAACTGCTCAAGTAAGCTC 0.318 NA 16 40 1.34e-09 1.69e-09 1 0 CFH 3075 broad.mit.edu 37 1 196709852 196709852 + Silent SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:196709852T>A uc001gtj.3 + 18 3126 c.2886T>A c.(2884-2886)GGT>GGA p.G962G NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 962 Sushi 16. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GTTTTGAAGGTTTTGGAATTG 0.373 NA 34 65 0 0 0 0 MYBPH 4608 broad.mit.edu 37 1 203140617 203140617 + Silent SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:203140617G>C uc001gzh.1 - 5 746 c.687C>G c.(685-687)TCC>TCG p.S229S FMOD_uc010pqi.1_Intron NM_004997 NP_004988 Q13203 MYBPH_HUMAN myosin binding protein H 229 Ig-like C2-type 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) TGAAGAGGATGGAGTCCTGGT 0.652 NA 14 41 0 0 0 0 PROX1 5629 broad.mit.edu 37 1 214170722 214170722 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:214170722G>A uc001hkh.2 + 2 1116 c.844G>A c.(844-846)GAG>AAG p.E282K PROX1_uc001hkg.1_Missense_Mutation_p.E282K NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 282 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CATGCGCTCGGAGATCCTGGA 0.517 NA 21 63 0 0 0 0 SLC35F3 148641 broad.mit.edu 37 1 234444872 234444872 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:234444872A>T uc001hwa.1 + 3 655 c.427A>T c.(427-429)AAT>TAT p.N143Y SLC35F3_uc001hvy.1_Missense_Mutation_p.N212Y NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 143 transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TTTTGGAGACAATGGCTTGAC 0.378 NA 26 91 0 0 0 0 SLC35F3 148641 broad.mit.edu 37 1 234444975 234444975 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:234444975C>A uc001hwa.1 + 3 758 c.530C>A c.(529-531)ACT>AAT p.T177N SLC35F3_uc001hvy.1_Missense_Mutation_p.T246N NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 177 transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) AAAATAAACACTACGGATGTC 0.438 NA 30 90 3.73e-12 4.87e-12 1 0 RYR2 6262 broad.mit.edu 37 1 237923109 237923109 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:237923109G>T uc001hyl.1 + 83 11479 c.11359G>T c.(11359-11361)GTG>TTG p.V3787L RYR2_uc010pya.1_Missense_Mutation_p.V202L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3787 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAAAAAGGATGTGGGCTTCTT 0.413 NA 17 62 4.97e-08 6.04e-08 1 0 FMN2 56776 broad.mit.edu 37 1 240351556 240351556 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:240351556C>G uc010pyd.1 + 4 2205 c.1980C>G c.(1978-1980)GTC>GTG p.V660V FMN2_uc010pye.1_Silent_p.V664V NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 660 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGATGCTGTCCAGAAGGTAA 0.408 NA 13 66 0 0 0 0 RGS7 6000 broad.mit.edu 37 1 240976951 240976951 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:240976951G>T uc001hyv.2 - 13 1253 c.923C>A c.(922-924)TCC>TAC p.S308Y RGS7_uc010pyh.1_Missense_Mutation_p.S282Y|RGS7_uc010pyj.1_Missense_Mutation_p.S224Y|RGS7_uc001hyu.2_Missense_Mutation_p.S308Y|RGS7_uc009xgn.1_Missense_Mutation_p.S255Y|RGS7_uc001hyw.2_Missense_Mutation_p.S308Y|RGS7_uc001hyt.2_Missense_Mutation_p.S140Y NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 308 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GGTGTCATCGGACAGCCATGG 0.443 NA 5 22 1.64e-10 2.09e-10 1 0 OR13G1 441933 broad.mit.edu 37 1 247835845 247835845 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:247835845C>A uc001idi.1 - 1 499 c.499G>T c.(499-501)GGG>TGG p.G167W NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGTTTGGCCCACAGAAAGTC 0.483 NA 15 38 0.000308642 0.000340199 1 0 OR2T6 254879 broad.mit.edu 37 1 248551061 248551061 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:248551061T>C uc001iei.1 + 1 152 c.152T>C c.(151-153)ATA>ACA p.I51T NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGATTAACATAGACCCTCAT 0.458 NA 9 31 0 0 0 0 OR2G6 391211 broad.mit.edu 37 1 248685492 248685492 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:248685492C>T uc001ien.1 + 1 545 c.545C>T c.(544-546)CCA>CTA p.P182L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTGAGGTGCCAGTGCTCATC 0.512 NA 12 45 0 0 0 0 FAM188A 80013 broad.mit.edu 37 10 15838171 15838171 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:15838171C>A uc001iod.1 - 11 1104 c.883G>T c.(883-885)GAT>TAT p.D295Y FAM188A_uc001ioe.1_Missense_Mutation_p.D122Y|FAM188A_uc001iof.1_Missense_Mutation_p.D295Y NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 295 apoptosis nucleus calcium ion binding ovary(1) 1 AAAGCCATATCCTGAAAAGAT 0.353 NA 32 98 2.68e-12 3.51e-12 1 0 CUBN 8029 broad.mit.edu 37 10 16982125 16982125 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:16982125G>A uc001ioo.2 - 37 5506 c.5454C>T c.(5452-5454)CTC>CTT p.L1818L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1818 CUB 12. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGAATAATTGAGAGGGAAGG 0.498 NA 109 149 0 0 0 0 FRMPD2 143162 broad.mit.edu 37 10 49444559 49444559 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:49444559G>T uc001jgi.2 - 9 1066 c.959C>A c.(958-960)GCC>GAC p.A320D FRMPD2_uc001jgh.2_Missense_Mutation_p.A289D|FRMPD2_uc001jgj.2_Missense_Mutation_p.A298D NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 320 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TGTCATCGGGGCCTCTCCAGC 0.567 NA 20 60 1.11e-12 1.46e-12 1 0 CHAT 1103 broad.mit.edu 37 10 50872936 50872936 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:50872936C>A uc001jhz.2 + 15 2244 c.2091C>A c.(2089-2091)CAC>CAA p.H697Q CHAT_uc001jhv.1_Missense_Mutation_p.H579Q|CHAT_uc001jhx.1_Missense_Mutation_p.H579Q|CHAT_uc001jhy.1_Missense_Mutation_p.H579Q|CHAT_uc001jia.2_Missense_Mutation_p.H579Q|CHAT_uc010qgs.1_Intron NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 697 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CTAGCTTTCACAGCTGCAAAG 0.512 NA 53 208 4.88e-21 6.92e-21 1 0 ZNF365 22891 broad.mit.edu 37 10 64415348 64415348 + Silent SNP C C G rs150729144 TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:64415348C>G uc001jmd.1 + 4 682 c.348C>G c.(346-348)TCC>TCG p.S116S ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron NM_199452 NP_955524 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform D 116 ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GTGGTCTCTCCGAGCTCATCA 0.502 NA 22 82 0 0 0 0 KCNMA1 3778 broad.mit.edu 37 10 78651359 78651359 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:78651359G>A uc001jxn.2 - 26 3443 c.3266C>T c.(3265-3267)CCG>CTG p.P1089L KCNMA1_uc001jxj.2_Missense_Mutation_p.P1035L|KCNMA1_uc001jxk.1_Missense_Mutation_p.P707L|KCNMA1_uc009xrt.1_Missense_Mutation_p.P880L|KCNMA1_uc001jxl.1_Missense_Mutation_p.P714L|KCNMA1_uc001jxo.2_Missense_Mutation_p.P1072L|KCNMA1_uc001jxm.2_Missense_Mutation_p.P1031L|KCNMA1_uc001jxq.2_Missense_Mutation_p.P1061L|uc001jxp.2_Intron NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 1089 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CAGTGTCTGCGGGGTGCTGTA 0.627 NA 16 36 0 0 0 0 KCNMA1 3778 broad.mit.edu 37 10 78846265 78846265 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:78846265T>C uc001jxn.2 - 11 1598 c.1421A>G c.(1420-1422)CAT>CGT p.H474R KCNMA1_uc001jxj.2_Missense_Mutation_p.H474R|KCNMA1_uc001jxk.1_Missense_Mutation_p.H89R|KCNMA1_uc009xrt.1_Missense_Mutation_p.H294R|KCNMA1_uc001jxl.1_Missense_Mutation_p.H128R|KCNMA1_uc001jxo.2_Missense_Mutation_p.H474R|KCNMA1_uc001jxm.2_Missense_Mutation_p.H474R|KCNMA1_uc001jxq.2_Missense_Mutation_p.H474R NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 474 RCK N-terminal.|Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TGCAAGATCATGTGGATTGAG 0.502 NA 21 44 0 0 0 0 SFTPA2 729238 broad.mit.edu 37 10 81317057 81317057 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:81317057G>A uc001kal.3 - 6 752 c.655C>T c.(655-657)CGG>TGG p.R219W SFTPA2_uc001kan.3_Missense_Mutation_p.R219W NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 219 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TCTTTTCCCCGACCTGCAGGC 0.557 NA Pulmonary_Fibrosis_Idiopathic 40 319 0 0 0 0 KIF20B 9585 broad.mit.edu 37 10 91528644 91528644 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:91528644A>T uc001kgs.1 + 31 5313 c.5241A>T c.(5239-5241)AAA>AAT p.K1747N KIF20B_uc001kgr.1_Missense_Mutation_p.K1707N|KIF20B_uc001kgt.1_Missense_Mutation_p.K958N|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1747 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 TTCAATCAAAAGGTTTGCAGA 0.313 NA 8 29 0 0 0 0 HECTD2 143279 broad.mit.edu 37 10 93221100 93221100 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:93221100A>T uc001khl.2 + 4 597 c.497A>T c.(496-498)AAT>ATT p.N166I LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khk.2_Missense_Mutation_p.N166I|HECTD2_uc010qnm.1_Missense_Mutation_p.N166I|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'Flank NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 166 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 CCAGAATTAAATGCTGCATTT 0.274 NA 23 67 0 0 0 0 EXOC6 54536 broad.mit.edu 37 10 94773979 94773979 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:94773979A>G uc001kig.2 + 20 2190 c.2124A>G c.(2122-2124)GGA>GGG p.G708G EXOC6_uc010qnr.1_Silent_p.G724G|EXOC6_uc001kie.2_Silent_p.G703G|EXOC6_uc009xub.2_Silent_p.G707G|EXOC6_uc009xuc.2_Silent_p.G605G|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Silent_p.G282G NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 708 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) CTGTGCCAGGATTCCAGGGGG 0.378 NA 15 47 0 0 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97402775 97402775 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:97402775C>A uc001kkz.2 - 3 519 c.277G>T c.(277-279)GGG>TGG p.G93W ALDH18A1_uc001kky.2_Missense_Mutation_p.G93W|ALDH18A1_uc010qog.1_Intron|ALDH18A1_uc010qoh.1_Intron NM_002860 NP_002851 P54886 P5CS_HUMAN pyrroline-5-carboxylate synthetase isoform 1 93 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity pancreas(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) GCCAAGCGCCCCAGGGCCAGG 0.507 NA 11 34 0.000673444 0.000734062 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118355782 118355782 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr10:118355782C>G uc001lco.1 + 6 540 c.522C>G c.(520-522)GCC>GCG p.A174A PNLIPRP1_uc001lcp.2_Silent_p.A174A|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 174 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) GCCTGGGAGCCCACGTGGCTG 0.537 NA 37 156 0 0 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195351 18195351 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:18195351G>C uc001mnv.1 + 1 968 c.548G>C c.(547-549)TGG>TCG p.W183S NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 183 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CCAGTCGCGTGGCTGATTTTT 0.512 NA 77 68 0 0 0 0 SYT13 57586 broad.mit.edu 37 11 45277359 45277359 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:45277359C>G uc001myq.2 - 2 393 c.267G>C c.(265-267)GTG>GTC p.V89V SYT13_uc009yku.1_5'UTR NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 89 Cytoplasmic (Potential). transport vesicle ovary(1) 1 CTGGAGCCGTCACAGCTGGCC 0.547 NA 34 37 0 0 0 0 OR8J3 81168 broad.mit.edu 37 11 55904831 55904831 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:55904831G>A uc010riz.1 - 1 364 c.364C>T c.(364-366)CGC>TGC p.R122C NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) GCCACATAGCGGTCATAGGCC 0.502 NA 25 53 0 0 0 0 MS4A14 84689 broad.mit.edu 37 11 60183406 60183406 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:60183406C>T uc001npj.2 + 5 1530 c.965C>T c.(964-966)TCC>TTC p.S322F MS4A14_uc001npi.2_Missense_Mutation_p.S210F|MS4A14_uc001npn.2_Missense_Mutation_p.S60F|MS4A14_uc001npk.2_Missense_Mutation_p.S305F|MS4A14_uc001npl.2_Missense_Mutation_p.S60F|MS4A14_uc001npm.2_Missense_Mutation_p.S60F NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 322 integral to membrane receptor activity breast(1) 1 GACTTGCCATCCCAAGCTCTA 0.453 NA 12 19 0 0 0 0 MEN1 4221 broad.mit.edu 37 11 64577147 64577147 + Silent SNP G G A rs61736636 byFrequency TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:64577147G>A uc001obj.2 - 2 508 c.435C>T c.(433-435)AGC>AGT p.S145S MEN1_uc001obk.2_Silent_p.S145S|MEN1_uc001obl.2_Silent_p.S145S|MEN1_uc001obm.2_Silent_p.S145S|MEN1_uc001obn.2_Silent_p.S145S|MEN1_uc001obo.2_Silent_p.S145S|MEN1_uc001obp.2_Silent_p.S145S|MEN1_uc001obq.2_Silent_p.S145S|MEN1_uc001obr.2_Silent_p.S145S NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 145 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.F146fs*34(1)|p.S145R(1) parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 CTGTGATGAAGCTGAAGAGGG 0.498 NA D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 6 143 0 0 0 0 PACS1 55690 broad.mit.edu 37 11 66008926 66008926 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:66008926A>G uc001oha.1 + 22 2592 c.2458A>G c.(2458-2460)ATT>GTT p.I820V PACS1_uc010rou.1_Missense_Mutation_p.I356V NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 820 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 TGGGGACGTGATTGGCCTCCA 0.592 NA 4 39 0 0 0 0 CPT1A 1374 broad.mit.edu 37 11 68548156 68548156 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:68548156G>T uc001oog.3 - 12 1580 c.1410C>A c.(1408-1410)AAC>AAA p.N470K CPT1A_uc001oof.3_Missense_Mutation_p.N470K|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 470 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AGTGTTCAGCGTTGAGGCCCA 0.463 NA 172 84 6.84e-98 9.91e-98 1 0 MRPL21 219927 broad.mit.edu 37 11 68665462 68665462 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:68665462G>T uc001ooi.2 - 3 190 c.165C>A c.(163-165)TCC>TCA p.S55S MRPL21_uc001ooh.2_5'UTR|MRPL21_uc010rqe.1_Silent_p.S55S NM_181514 NP_852615 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 isoform d 55 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GTGAACTCAGGGATGTTTTAG 0.473 NA 74 197 5.77e-54 8.35e-54 1 0 AMOTL1 154810 broad.mit.edu 37 11 94533290 94533290 + Nonsense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:94533290G>T uc001pfb.2 + 3 1104 c.934G>T c.(934-936)GAG>TAG p.E312* AMOTL1_uc001pfc.2_Nonsense_Mutation_p.E262* NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 312 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) TCCTCCACCTGAGTACCCCTT 0.602 NA 59 65 7.48e-22 1.07e-21 1 0 MMP8 4317 broad.mit.edu 37 11 102593338 102593338 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:102593338T>C uc001phe.2 - 2 268 c.169A>G c.(169-171)AAT>GAT p.N57D MMP8_uc010rut.1_5'UTR|MMP8_uc010ruu.1_Missense_Mutation_p.N34D NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 57 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ACGATCACATTAGTGCCATTC 0.433 NA 27 32 0 0 0 0 CDON 50937 broad.mit.edu 37 11 125871614 125871614 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:125871614C>T uc009zbw.2 - 11 2286 c.2158G>A c.(2158-2160)GTT>ATT p.V720I CDON_uc001qdb.3_Missense_Mutation_p.V97I|CDON_uc001qdc.3_Missense_Mutation_p.V720I NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 720 Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TTCTTTTTACCTCCACTGTGC 0.408 NA 13 27 0 0 0 0 ATN1 1822 broad.mit.edu 37 12 7047905 7047905 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:7047905G>T uc001qrw.1 + 7 3016 c.2779G>T c.(2779-2781)GAT>TAT p.D927Y ATN1_uc001qrx.1_Missense_Mutation_p.D927Y NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 927 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 GTACAGCAGTGATCCAGCTGC 0.622 NA 38 174 8.16e-20 1.15e-19 1 0 CLEC4D 338339 broad.mit.edu 37 12 8667867 8667867 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:8667867G>T uc001qun.2 + 2 257 c.64G>T c.(64-66)GTT>TTT p.V22F NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 22 Helical; Signal-anchor for type II membrane protein; (Potential). innate immune response integral to membrane sugar binding 0 Lung SC(5;0.184) GATACCTTCGGTTATTGCTGT 0.378 NA 33 139 1.05e-18 1.46e-18 1 0 GRIN2B 2904 broad.mit.edu 37 12 13768124 13768124 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:13768124A>G uc001rbt.2 - 7 1757 c.1578T>C c.(1576-1578)TCT>TCC p.S526S NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 526 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGAAGGGCACAGAGAAGTCGA 0.527 NA 16 92 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 14018745 14018745 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:14018745A>G uc001rbt.2 - 2 577 c.398T>C c.(397-399)ATA>ACA p.I133T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 133 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATCTGCCATTATCATAGAGGA 0.502 NA 36 211 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20801724 20801724 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:20801724G>T uc001reh.1 + 13 2690 c.2668G>T c.(2668-2670)GAC>TAC p.D890Y NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 890 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AATTAACCTTGACCATGTGGA 0.408 NA 34 129 9.18e-22 1.31e-21 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21327510 21327510 + Splice_Site SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:21327510G>C uc001req.3 + 4 331 c.227_splice c.e4-1 p.G76_splice NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TCCCTTTCTAGGAAATTTGCT 0.363 NA 12 18 0 0 0 0 KCNH3 23416 broad.mit.edu 37 12 49936579 49936579 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:49936579G>C uc001ruh.1 + 4 796 c.536G>C c.(535-537)GGG>GCG p.G179A KCNH3_uc010smj.1_Missense_Mutation_p.G119A NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 179 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 CACCTGTCCGGGCACCTGCAG 0.652 NA 4 2 0 0 0 0 KRT6B 3854 broad.mit.edu 37 12 52842695 52842695 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:52842695C>T uc001sak.2 - 6 1182 c.1134G>A c.(1132-1134)AAG>AAA p.K378K NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 378 Rod.|Coil 2. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) CAATCTCCTGCTTGGTGTTGC 0.552 NA 29 49 0 0 0 0 OR6C65 403282 broad.mit.edu 37 12 55794728 55794728 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:55794728G>A uc010spl.1 + 1 416 c.416G>A c.(415-417)TGT>TAT p.C139Y NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AACAAAGTCTGTAATTGGCTT 0.418 NA 56 80 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78522567 78522567 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:78522567C>T uc001syp.2 + 18 4535 c.4362C>T c.(4360-4362)GAC>GAT p.D1454D NAV3_uc001syo.2_Silent_p.D1454D|NAV3_uc010sub.1_Silent_p.D940D|NAV3_uc009zsf.2_Silent_p.D285D NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1454 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GGCTTCAGGACACTGGCAACC 0.463 NA HNSCC(70;0.22) 24 44 0 0 0 0 LIN7A 8825 broad.mit.edu 37 12 81283142 81283142 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:81283142G>C uc001szj.1 - 2 282 c.89C>G c.(88-90)GCA>GGA p.A30G LIN7A_uc001szk.1_RNA NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 30 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 AATTGCTCTTGCAACATCTGA 0.343 NA 12 13 0 0 0 0 PLXNC1 10154 broad.mit.edu 37 12 94648656 94648656 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:94648656T>A uc001tdc.2 + 16 3224 c.2975T>A c.(2974-2976)ATA>AAA p.I992K PLXNC1_uc010sut.1_Missense_Mutation_p.I39K NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 992 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 CGGAAAGAGATACGTGACGGT 0.433 NA 4 9 0 0 0 0 PAH 5053 broad.mit.edu 37 12 103245509 103245509 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:103245509G>A uc001tjq.1 - 9 1340 c.868C>T c.(868-870)CAT>TAT p.H290Y NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 290 Iron (By similarity). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) AAGGGCACATGTCCCAACAGC 0.468 NA 7 26 0 0 0 0 KDM2B 84678 broad.mit.edu 37 12 121879997 121879997 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr12:121879997A>T uc001uat.2 - 19 3351 c.3247T>A c.(3247-3249)TGT>AGT p.C1083S KDM2B_uc001uaq.2_Missense_Mutation_p.C523S|KDM2B_uc010szy.1_Missense_Mutation_p.C523S|KDM2B_uc001uar.2_Missense_Mutation_p.C674S|KDM2B_uc001uas.2_Missense_Mutation_p.C1014S|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.C331S|KDM2B_uc010szx.1_Missense_Mutation_p.C331S|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 1083 F-box. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 ATGCACACACACAGGTCTTGG 0.662 NA 12 53 0 0 0 0 CKAP2 26586 broad.mit.edu 37 13 53035751 53035751 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr13:53035751C>T uc001vgv.2 + 4 990 c.793C>T c.(793-795)CGG>TGG p.R265W CKAP2_uc001vgt.2_Missense_Mutation_p.R264W|CKAP2_uc001vgu.2_Missense_Mutation_p.R264W|CKAP2_uc010tha.1_Missense_Mutation_p.R216W NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 265 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) CAGTAATACCCGGGACACTGT 0.408 NA 14 22 0 0 0 0 PCDH20 64881 broad.mit.edu 37 13 61986650 61986650 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr13:61986650C>T uc001vid.3 - 2 1946 c.1582G>A c.(1582-1584)GAC>AAC p.D528N PCDH20_uc010thj.1_Missense_Mutation_p.D528N NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 501 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TTATCATTGTCATCTAAAAGT 0.398 NA 44 89 0 0 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328295 88328295 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr13:88328295G>T uc001vln.2 + 2 871 c.652G>T c.(652-654)GTG>TTG p.V218L SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 218 Extracellular (Potential).|LRR 6. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TCTGCCCTACGTGGGGCTCTT 0.483 NA 34 51 3.33e-15 4.51e-15 1 0 DZIP1 22873 broad.mit.edu 37 13 96237044 96237044 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr13:96237044C>T uc001vmk.2 - 22 3322 c.2470G>A c.(2470-2472)GCT>ACT p.A824T DZIP1_uc001vmi.2_Missense_Mutation_p.A72T|DZIP1_uc001vmj.2_Missense_Mutation_p.A300T|DZIP1_uc001vml.2_Missense_Mutation_p.A805T|DZIP1_uc001vmm.2_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 824 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AGCACATGAGCAAAATGTGGT 0.438 NA 24 43 0 0 0 0 FARP1 10160 broad.mit.edu 37 13 99087858 99087858 + Silent SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr13:99087858G>C uc001vnj.2 + 19 2508 c.2172G>C c.(2170-2172)GTG>GTC p.V724V FARP1_uc001vnh.2_Silent_p.V724V NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 724 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CGGAGATGGTGGCACAGCTCC 0.517 NA 19 29 0 0 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215674 20215674 + Missense_Mutation SNP C C A rs4494468 TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:20215674C>A uc010tkt.1 + 1 88 c.88C>A c.(88-90)CTA>ATA p.L30I NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCTTCTTACTATTTTTGTT 0.378 NA 19 87 7.45e-12 9.67e-12 1 0 CCNB1IP1 57820 broad.mit.edu 37 14 20781866 20781866 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:20781866C>G uc001vwv.2 - 6 1041 c.392G>C c.(391-393)AGC>ACC p.S131T CCNB1IP1_uc001vww.2_Missense_Mutation_p.S131T|CCNB1IP1_uc001vwx.2_Missense_Mutation_p.S131T|CCNB1IP1_uc001vwy.2_Missense_Mutation_p.S131T|CCNB1IP1_uc001vwz.2_Missense_Mutation_p.S131T NM_182851 NP_878271 Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1 isoform 3 131 Potential. chromosome|nucleus ligase activity|metal ion binding|protein binding HMGA2/CCNB1IP1(2) soft_tissue(2)|ovary(1) 3 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) TACATCCTTGCTTTGTATTTG 0.393 NA T HMGA2 leiomyoma 5 103 0 0 0 0 SALL2 6297 broad.mit.edu 37 14 21991721 21991721 + Missense_Mutation SNP A A C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:21991721A>C uc001wbe.2 - 2 2423 c.2141T>G c.(2140-2142)CTG>CGG p.L714R SALL2_uc010tly.1_Missense_Mutation_p.L712R|SALL2_uc010tlz.1_Missense_Mutation_p.L577R|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.L579R|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 714 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CTGGCCCCCCAGGTGCATCCG 0.607 NA 5 36 0 0 0 0 IPO4 79711 broad.mit.edu 37 14 24652822 24652822 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:24652822G>A uc001wmv.1 - 20 2168 c.2037C>T c.(2035-2037)GCC>GCT p.A679A IPO4_uc001wmt.1_Silent_p.A157A|IPO4_uc001wmu.2_Silent_p.A341A|IPO4_uc001wmx.1_Silent_p.A543A|IPO4_uc001wmy.1_Silent_p.A543A|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.A679A NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 679 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) TCTCCCCCACGGCAGCACAGG 0.577 NA 8 44 0 0 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36128345 36128345 + Nonsense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:36128345G>A uc001wti.2 - 27 4259 c.3868C>T c.(3868-3870)CGA>TGA p.R1290* RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Nonsense_Mutation_p.R1290*|RALGAPA1_uc010tpv.1_Nonsense_Mutation_p.R1303*|RALGAPA1_uc010tpw.1_Nonsense_Mutation_p.R1337* NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1290 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 CCGACCTACCGTGCAGGACCA 0.373 NA 9 27 0 0 0 0 SSTR1 6751 broad.mit.edu 37 14 38678848 38678848 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:38678848G>T uc001wul.1 + 3 871 c.254G>T c.(253-255)CGC>CTC p.R85L SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 85 Cytoplasmic (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GTGATCCTGCGCTATGCCAAG 0.562 NA 22 87 1.97e-08 2.41e-08 1 0 RPL10L 140801 broad.mit.edu 37 14 47120455 47120455 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:47120455C>A uc001wwg.2 - 1 574 c.485G>T c.(484-486)CGC>CTC p.R162L NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 162 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 AATCTTCTGGCGTCCAGGGAA 0.498 NA 35 103 5.83e-16 7.96e-16 1 0 ARF6 382 broad.mit.edu 37 14 50360768 50360768 + Missense_Mutation SNP G G C rs61755568 TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:50360768G>C uc001wxg.3 + 2 935 c.314G>C c.(313-315)CGC>CCC p.R105P NM_001663 NP_001654 P62330 ARF6_HUMAN ADP-ribosylation factor 6 105 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding 0 all_epithelial(31;0.000822)|Breast(41;0.0117) GAGCTGCACCGCATTATCAAT 0.587 NA 15 45 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 80164140 80164140 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:80164140C>A uc001xun.2 + 15 3156 c.2665C>A c.(2665-2667)CTG>ATG p.L889M NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.L257M|NRXN3_uc010asw.2_Missense_Mutation_p.L287M|NRXN3_uc001xur.3_Missense_Mutation_p.L257M NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1262 Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AAGTGTTCGGCTGGTTGGAGA 0.458 NA 17 44 5.39e-06 6.26e-06 1 0 DICER1 23405 broad.mit.edu 37 14 95574699 95574699 + Silent SNP T T G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:95574699T>G uc001ydw.2 - 16 2580 c.2398A>C c.(2398-2400)AGA>CGA p.R800R DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Silent_p.R790R|DICER1_uc001ydx.2_Silent_p.R800R NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 800 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CCAAAGCATCTTGTGGTATCT 0.398 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 34 135 0 0 0 0 DLK1 8788 broad.mit.edu 37 14 101194741 101194741 + Missense_Mutation SNP T T G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr14:101194741T>G uc001yhs.3 + 2 229 c.76T>G c.(76-78)TGC>GGC p.C26G DLK1_uc001yhu.3_Missense_Mutation_p.C26G NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 26 Extracellular (Potential).|EGF-like 1. multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) AGGGGCTGAATGCTTCCCGGC 0.572 NA 30 73 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 25940061 25940061 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:25940061C>A uc010ayu.2 - 14 3099 c.2993G>T c.(2992-2994)TGC>TTC p.C998F NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 998 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) GACGGAGCGGCACTGCTTGGC 0.607 NA 18 38 1.68e-08 2.06e-08 1 0 TJP1 7082 broad.mit.edu 37 15 30012801 30012801 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:30012801C>T uc001zcr.2 - 19 2999 c.2524G>A c.(2524-2526)GAC>AAC p.D842N TJP1_uc010azl.2_Missense_Mutation_p.D830N|TJP1_uc001zcq.2_Missense_Mutation_p.D846N|TJP1_uc001zcs.2_Missense_Mutation_p.D842N NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 842 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) TCTTCATAGTCAGAAGTGTGT 0.463 NA 30 44 0 0 0 0 OTUD7A 161725 broad.mit.edu 37 15 31819495 31819495 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:31819495G>C uc001zfq.2 - 5 762 c.669C>G c.(667-669)CAC>CAG p.H223Q OTUD7A_uc001zfr.2_Missense_Mutation_p.H223Q NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 223 OTU.|Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GGTCCCGGTCGTGAAACCCCC 0.577 NA 16 171 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33855069 33855069 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:33855069A>T uc001zhi.2 + 11 1074 c.1004A>T c.(1003-1005)AAG>ATG p.K335M RYR3_uc010bar.2_Missense_Mutation_p.K335M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 335 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCAGTCACAAGCGAGACATA 0.403 NA 13 27 0 0 0 0 LTK 4058 broad.mit.edu 37 15 41801279 41801279 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:41801279C>A uc001zoa.3 - 8 1224 c.1046G>T c.(1045-1047)GGA>GTA p.G349V LTK_uc001zob.3_Missense_Mutation_p.G288V|LTK_uc010ucx.1_Missense_Mutation_p.G288V|LTK_uc010bcg.2_Missense_Mutation_p.G31V NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 349 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) GAAGGATACTCCATCTTCCCC 0.577 NA TSP Lung(18;0.14) 9 79 1.77e-08 2.17e-08 1 0 SPATA5L1 79029 broad.mit.edu 37 15 45695581 45695581 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:45695581G>C uc001zve.2 + 1 1063 c.954G>C c.(952-954)GAG>GAC p.E318D uc001zvd.2_5'Flank|SPATA5L1_uc001zvf.2_RNA NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 318 cytoplasm ATP binding|nucleoside-triphosphatase activity ovary(3)|skin(1) 4 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GAGCACCCGAGAGCCGCGTAG 0.697 NA 11 15 0 0 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84582010 84582010 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:84582010G>A uc002bjz.3 + 16 2091 c.1867G>A c.(1867-1869)GAA>AAA p.E623K ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E623K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E623K NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 623 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CTGCCTCCTGGAAGCATGTGA 0.612 NA 12 24 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85360196 85360196 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:85360196G>T uc002ble.2 + 1 286 c.119G>T c.(118-120)CGG>CTG p.R40L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 40 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) GGTCTCCCGCGGTCTAGCCCA 0.682 NA 4 30 0.00909568 0.00951548 1 0 SV2B 9899 broad.mit.edu 37 15 91811780 91811780 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr15:91811780A>G uc002bqv.2 + 8 1709 c.1318A>G c.(1318-1320)ATC>GTC p.I440V SV2B_uc002bqt.2_Missense_Mutation_p.I440V|SV2B_uc010uqv.1_Missense_Mutation_p.I289V|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 440 Extracellular (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) CGGCGCCACAATCAACTTCAC 0.428 NA 19 105 0 0 0 0 IFT140 9742 broad.mit.edu 37 16 1570757 1570757 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:1570757T>C uc002cmb.2 - 27 3868 c.3506A>G c.(3505-3507)GAG>GGG p.E1169G IFT140_uc002clz.2_Missense_Mutation_p.E782G NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 1169 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) TTCCGCCATCTCCTCGGTGAT 0.632 NA 11 37 0 0 0 0 PKMYT1 9088 broad.mit.edu 37 16 3024069 3024069 + Silent SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:3024069A>T uc002csn.2 - 7 1685 c.1242T>A c.(1240-1242)CCT>CCA p.P414P PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.P414P|PKMYT1_uc002cso.2_Silent_p.P345P|PKMYT1_uc002csp.2_Silent_p.P405P|PKMYT1_uc002csq.2_Silent_p.P405P|PKMYT1_uc010bsy.1_Silent_p.P405P NM_004203 NP_004194 Q99640 PMYT1_HUMAN protein kinase Myt1 isoform 1 414 Interaction with PIN1. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 GTGGTGAGCCAGGCGGGGTGG 0.677 NA 6 19 0 0 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857816 9857816 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:9857816G>T uc002czo.3 - 13 4133 c.3585C>A c.(3583-3585)GAC>GAA p.D1195E GRIN2A_uc010uym.1_Missense_Mutation_p.D1195E|GRIN2A_uc010uyn.1_Missense_Mutation_p.D1038E|GRIN2A_uc002czr.3_Missense_Mutation_p.D1195E NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1195 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGGAACCCTTGTCTTTCAAGG 0.532 NA 62 223 3.89e-28 5.6e-28 1 0 XYLT1 64131 broad.mit.edu 37 16 17211771 17211771 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:17211771C>A uc002dfa.2 - 11 2374 c.2289G>T c.(2287-2289)ATG>ATT p.M763I NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 763 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CCGGCTCATCCATGGGCCCCA 0.572 NA 14 42 1.36e-06 1.61e-06 1 0 SCNN1B 6338 broad.mit.edu 37 16 23391744 23391744 + Silent SNP C C T rs61759916 byFrequency TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:23391744C>T uc002dln.2 + 13 1721 c.1545C>T c.(1543-1545)ATC>ATT p.I515I NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 515 Helical; (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCCCACAGATCGTCTGGCTGC 0.582 NA 28 74 0 0 0 0 PALB2 79728 broad.mit.edu 37 16 23640992 23640992 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:23640992C>A uc002dlx.1 - 5 2683 c.2483G>T c.(2482-2484)TGC>TTC p.C828F NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 828 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) CAGCTCCTGGCATGTGTTTCT 0.438 NA F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 17 51 6.5e-13 8.57e-13 1 0 RBBP6 5930 broad.mit.edu 37 16 24578538 24578538 + Missense_Mutation SNP T T G rs16973840 TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:24578538T>G uc002dmh.2 + 15 2704 c.1664T>G c.(1663-1665)GTC>GGC p.V555G RBBP6_uc010vcb.1_Missense_Mutation_p.V422G|RBBP6_uc002dmi.2_Missense_Mutation_p.V555G|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.V422G NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 555 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GCAACTCCAGTCTTTGTAcct 0.239 NA 16 47 0 0 0 0 ATP2A1 487 broad.mit.edu 37 16 28895897 28895897 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:28895897G>T uc002dro.1 + 6 649 c.465G>T c.(463-465)GTG>GTT p.V155V uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.V155V|ATP2A1_uc002drp.1_Silent_p.V30V NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 155 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCTCCACAGTGGGGGACAAAG 0.532 NA 14 36 8.6e-14 1.15e-13 1 0 SETD1A 9739 broad.mit.edu 37 16 30977521 30977521 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:30977521C>T uc002ead.1 + 8 3005 c.2319C>T c.(2317-2319)CCC>CCT p.P773P NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 773 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 GGCTGCCACCCAGGGAAGAAG 0.667 NA 8 40 0 0 0 0 STX4 6810 broad.mit.edu 37 16 31045834 31045834 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:31045834G>T uc002eal.2 + 4 508 c.284G>T c.(283-285)AGG>ATG p.R95M STX4_uc002eak.2_Missense_Mutation_p.R93M|STX4_uc002eam.2_Missense_Mutation_p.R17M NM_004604 NP_004595 Q12846 STX4_HUMAN syntaxin 4 95 Cytoplasmic (Potential).|Potential. intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity 0 CAGCTGGGGAGGGAGATCCGC 0.383 NA 8 20 0.00307968 0.003284 1 0 ABCC12 94160 broad.mit.edu 37 16 48119591 48119591 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:48119591C>A uc002efc.1 - 27 4087 c.3741G>T c.(3739-3741)CAG>CAT p.Q1247H ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1247 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TGACTTCTGCCTGTAATTTTT 0.403 NA 31 53 1.08e-15 1.47e-15 1 0 HSF4 3299 broad.mit.edu 37 16 67201122 67201122 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:67201122G>A uc002erl.1 + 9 1691 c.726G>A c.(724-726)CAG>CAA p.Q242Q HSF4_uc002erm.1_Silent_p.Q242Q|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 isoform b 242 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) ACTTCATCCAGTCGGTAGGTT 0.567 NA 18 39 0 0 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82182435 82182435 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:82182435C>G uc002fgw.2 - 5 433 c.384G>C c.(382-384)AAG>AAC p.K128N NM_005792 NP_005783 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 128 Nuclear localization signal (Potential). M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding 0 TTCTGGCAAACTTTTTCCCAA 0.398 NA 40 85 0 0 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4443014 4443014 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:4443014G>C uc002fyb.3 - 26 3745 c.3683C>G c.(3682-3684)CCA>CGA p.P1228R MYBBP1A_uc002fxz.3_Missense_Mutation_p.P1228R|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Missense_Mutation_p.P173R|MYBBP1A_uc010vsa.1_Missense_Mutation_p.P270R NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 1228 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 CTTGGTGGTTGGCGTCCCGTT 0.652 NA 33 117 0 0 0 0 BCL6B 255877 broad.mit.edu 37 17 6927486 6927486 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:6927486C>G uc002geg.2 + 3 321 c.264C>G c.(262-264)GGC>GGG p.G88G BCL6B_uc010clt.1_Silent_p.G88G NM_181844 NP_862827 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B (zinc finger 88 BTB. nucleus zinc ion binding skin(1) 1 AAGCGAGAGGCTTCGCCCCTC 0.612 NA 66 143 0 0 0 0 POLR2A 5430 broad.mit.edu 37 17 7399318 7399318 + Missense_Mutation SNP G G C rs150809300 TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:7399318G>C uc002ghf.3 + 2 386 c.152G>C c.(151-153)CGC>CCC p.R51P POLR2A_uc002ghe.2_Missense_Mutation_p.R51P NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 51 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) GAGGGAGGCCGCCCCAAGCTT 0.592 NA 26 73 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577081 7577081 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:7577081T>A uc002gim.2 - 8 1051 c.857A>T c.(856-858)GAA>GTA p.E286V TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154V|TP53_uc010cng.1_Missense_Mutation_p.E154V|TP53_uc002gii.1_Missense_Mutation_p.E154V|TP53_uc010cnh.1_Missense_Mutation_p.E286V|TP53_uc010cni.1_Missense_Mutation_p.E286V|TP53_uc002gij.2_Missense_Mutation_p.E286V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 286 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E286K(50)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.E285_L289delEEENL(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGATTCTCTTCCTCTGTGCG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 63 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10432120 10432120 + Nonsense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:10432120C>A uc010coi.2 - 27 3759 c.3631G>T c.(3631-3633)GAG>TAG p.E1211* uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.E1211*|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1211 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TCAATCTGCTCCCCAAGCTCG 0.537 NA 24 81 3.01e-09 3.77e-09 1 0 SLC47A1 55244 broad.mit.edu 37 17 19480696 19480697 + Missense_Mutation DNP CC CC AA TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:19480696_19480697CC>AA uc002gvy.1 + 17 1629_1630 c.1543_1544CC>AA c.(1543-1545)CCT>AAT p.P515N SLC47A1_uc002gvx.2_Missense_Mutation_p.P515N|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Missense_Mutation_p.P213N|SLC47A1_uc010cqq.1_Missense_Mutation_p.P261N|SLC47A1_uc010vza.1_Missense_Mutation_p.P227N|SLC47A1_uc010vzb.1_Missense_Mutation_p.P190N|SLC47A1_uc010vzc.1_Missense_Mutation_p.P187N NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 515 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GACAGGCGAGCCTCAGTCAGAT 0.495 NA 41 110 0 0 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319644 21319644 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:21319644G>T uc002gyv.1 + 3 1695 c.990G>T c.(988-990)GTG>GTT p.V330V NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 330 Cytoplasmic (By similarity). 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) TTGAGCCCGTGCTCTTCGAGG 0.587 NA Prostate(3;0.18) 30 211 9.78e-22 1.39e-21 1 0 FOXK2 3607 broad.mit.edu 37 17 80477969 80477969 + Missense_Mutation SNP A A C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:80477969A>C uc002kfn.2 + 1 376 c.205A>C c.(205-207)ATG>CTG p.M69L FOXK2_uc002kfm.1_Missense_Mutation_p.M69L|FOXK2_uc010diu.2_Missense_Mutation_p.M69L NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 69 FHA.|Gly-rich. AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) GGACGTGAGCATGGGCCACTC 0.478 NA 4 40 0 0 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891793 5891793 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr18:5891793C>G uc002kmx.1 - 1 311 c.270G>C c.(268-270)CCG>CCC p.P90P NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 90 integral to membrane 0 TGCCCGCAGGCGGCAGCTGCT 0.672 NA 26 26 0 0 0 0 PTPRM 5797 broad.mit.edu 37 18 7955363 7955363 + Silent SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr18:7955363T>A uc002knn.3 + 7 1586 c.1083T>A c.(1081-1083)GGT>GGA p.G361G PTPRM_uc010dkv.2_Silent_p.G361G|PTPRM_uc010wzl.1_Silent_p.G148G NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 361 Fibronectin type-III 1.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CAGGGGAGGGTGGCACTGGCT 0.498 NA 28 22 0 0 0 0 C18orf55 29090 broad.mit.edu 37 18 71816193 71816193 + Missense_Mutation SNP A A C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr18:71816193A>C uc010dqr.1 + 1 448 c.150A>C c.(148-150)AAA>AAC p.K50N FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN hypothetical protein LOC29090 precursor 50 protein transport|transmembrane transport integral to membrane|mitochondrial membrane 0 Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211) ATCAAAAGAAAACGCTGCGAC 0.498 NA 50 135 0 0 0 0 C18orf55 29090 broad.mit.edu 37 18 71816197 71816197 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr18:71816197C>G uc010dqr.1 + 1 452 c.154C>G c.(154-156)CTG>GTG p.L52V FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN hypothetical protein LOC29090 precursor 52 protein transport|transmembrane transport integral to membrane|mitochondrial membrane 0 Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211) AAAGAAAACGCTGCGACCTAG 0.493 NA 56 135 0 0 0 0 CELF5 60680 broad.mit.edu 37 19 3282450 3282450 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:3282450C>A uc002lxm.2 + 8 1030 c.993C>A c.(991-993)CAC>CAA p.H331Q CELF5_uc002lxl.1_Missense_Mutation_p.H331Q|CELF5_uc010dtj.1_Missense_Mutation_p.H306Q|CELF5_uc010xhg.1_Missense_Mutation_p.H217Q|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 331 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 CAGGTGGGCACCCTGCCCTGG 0.622 NA 13 57 1.5e-05 1.72e-05 1 0 TMEM146 257062 broad.mit.edu 37 19 5776299 5776299 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:5776299A>G uc002mda.2 + 21 2130 c.2069A>G c.(2068-2070)TAC>TGC p.Y690C NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 690 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TATGTCTTCTACATTTCGATC 0.577 NA 23 30 0 0 0 0 FUT6 2528 broad.mit.edu 37 19 5831891 5831891 + Missense_Mutation SNP G G T rs364637 byFrequency TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:5831891G>T uc002mdf.1 - 4 1214 c.688C>A c.(688-690)CAG>AAG p.Q230K FUT6_uc002mdg.1_Missense_Mutation_p.Q230K|FUT6_uc002mdh.1_Missense_Mutation_p.Q230K|FUT6_uc010dul.1_Missense_Mutation_p.Q230K NM_001040701 NP_001035791 P51993 FUT6_HUMAN fucosyltransferase 6 230 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 ATGGTTCCCTGGGGCAGGGGC 0.612 NA 18 99 1.79e-09 2.25e-09 1 0 ZNF440 126070 broad.mit.edu 37 19 11943503 11943503 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:11943503C>G uc002msp.1 + 4 1668 c.1512C>G c.(1510-1512)ATC>ATG p.I504M NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTTGATATCATGAAAGGAC 0.423 NA 10 29 0 0 0 0 ZNF440 126070 broad.mit.edu 37 19 11943668 11943668 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:11943668A>G uc002msp.1 + 4 1833 c.1677A>G c.(1675-1677)GAA>GAG p.E559E NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACACCTTTGAATACGTGGTAG 0.478 NA 6 47 0 0 0 0 ZNF700 90592 broad.mit.edu 37 19 12060260 12060260 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:12060260A>T uc002msu.2 + 4 1547 c.1421A>T c.(1420-1422)TAT>TTT p.Y474F ZNF700_uc010xme.1_Missense_Mutation_p.Y492F|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 474 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAAACCCTATGAATGTAAG 0.433 NA 17 59 0 0 0 0 BEST2 54831 broad.mit.edu 37 19 12867030 12867030 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:12867030G>A uc002mux.2 + 8 1024 c.1024G>A c.(1024-1026)GAG>AAG p.E342K NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN vitelliform macular dystrophy 2-like 1 342 Cytoplasmic (Potential). membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity ovary(1)|pancreas(1) 2 GGATGCAGCCGAGGCTCGCGC 0.592 NA 34 158 0 0 0 0 NACC1 112939 broad.mit.edu 37 19 13247186 13247186 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:13247186G>T uc002mwm.2 + 3 1255 c.1087G>T c.(1087-1089)GGC>TGC p.G363C NM_052876 NP_443108 Q96RE7 NACC1_HUMAN transcriptional repressor NAC1 363 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body 0 CTACGACGAGGGCGACCCCTC 0.647 NA 22 53 1.66e-10 2.12e-10 1 0 F2RL3 9002 broad.mit.edu 37 19 17000980 17000980 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:17000980G>T uc002nfa.2 + 2 881 c.706G>T c.(706-708)GCA>TCA p.A236S NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 236 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 GCCCCTGGACGCACAGGCCTC 0.706 NA 3 12 0.00909568 0.00951548 1 0 KIRREL2 84063 broad.mit.edu 37 19 36351814 36351814 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:36351814G>C uc002ocb.3 + 8 1144 c.932G>C c.(931-933)GGG>GCG p.G311A KIRREL2_uc002obz.3_Missense_Mutation_p.G311A|KIRREL2_uc002oca.3_Missense_Mutation_p.G261A|KIRREL2_uc002occ.3_Missense_Mutation_p.G258A|KIRREL2_uc002ocd.3_Missense_Mutation_p.G308A NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 311 Extracellular (Potential). 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) CGTCCAGTTGGGCCGATTCTG 0.652 NA 7 23 0 0 0 0 ZNF780B 163131 broad.mit.edu 37 19 40542336 40542336 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:40542336T>C uc002omu.2 - 5 495 c.430A>G c.(430-432)ATC>GTC p.I144V ZNF780B_uc002omv.2_5'UTR NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCATAGCTGATGATCTTCTGG 0.373 NA 8 26 0 0 0 0 SPTBN4 57731 broad.mit.edu 37 19 40978616 40978616 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:40978616C>T uc002ony.2 + 2 174 c.88C>T c.(88-90)CGG>TGG p.R30W SPTBN4_uc002onx.2_Missense_Mutation_p.R30W|SPTBN4_uc002onz.2_Missense_Mutation_p.R30W NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 30 Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGTCCGGATCGGGGCTGGGA 0.667 NA 5 19 0 0 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354396 42354396 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:42354396C>T uc002ors.2 + 7 855 c.772C>T c.(772-774)CTC>TTC p.L258F DMRTC2_uc002orr.1_Missense_Mutation_p.L135F|DMRTC2_uc010xwe.1_Missense_Mutation_p.L258F NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 258 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 AACTCTGATACTCCAGCCCTG 0.537 NA 86 284 0 0 0 0 QPCTL 54814 broad.mit.edu 37 19 46205167 46205167 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:46205167G>A uc010xxr.1 + 6 1219 c.998G>A c.(997-999)CGC>CAC p.R333H QPCTL_uc010ekn.2_Missense_Mutation_p.R239H NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 333 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) CCCTTCCTCCGCAGAGGTACC 0.592 NA 10 61 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54304538 54304538 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:54304538C>A uc002qch.3 - 7 2919 c.2699G>T c.(2698-2700)GGG>GTG p.G900V NLRP12_uc010eqw.2_Missense_Mutation_p.G183V|NLRP12_uc002qci.3_Missense_Mutation_p.G900V|NLRP12_uc002qcj.3_Missense_Mutation_p.G901V|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 900 LRR 3. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGCAGCACCCCGAGGTCCCC 0.622 NA 12 36 7.04e-09 8.73e-09 1 0 MBOAT7 79143 broad.mit.edu 37 19 54692190 54692190 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:54692190C>T uc002qdq.2 - 4 353 c.87G>A c.(85-87)CTG>CTA p.L29L MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Silent_p.L11L|MBOAT7_uc002qdr.2_Silent_p.L29L|MBOAT7_uc002qds.2_5'UTR|MBOAT7_uc010yen.1_5'UTR|MBOAT7_uc002qdt.3_Silent_p.L29L|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank|TSEN34_uc002qdw.2_5'Flank NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 29 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCCATCTCTTCAGCCCAGGAC 0.642 NA 9 18 0 0 0 0 NLRP7 199713 broad.mit.edu 37 19 55446005 55446005 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:55446005G>T uc002qih.3 - 7 2399 c.2323C>A c.(2323-2325)CCG>ACG p.P775T NLRP7_uc002qig.3_Missense_Mutation_p.P747T|NLRP7_uc002qii.3_Missense_Mutation_p.P775T|NLRP7_uc010esk.2_Missense_Mutation_p.P775T|NLRP7_uc010esl.2_Missense_Mutation_p.P803T NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 775 LRR 3. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CACTGCTCCGGGGTGGCACAG 0.478 NA 13 32 0.000219431 0.000244612 1 0 UBE2S 27338 broad.mit.edu 37 19 55915802 55915802 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:55915802G>A uc002qkx.1 - 3 564 c.196C>T c.(196-198)CTG>TTG p.L66L NM_014501 NP_055316 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 66 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity 0 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) TCCTTCCCCAGCAGGAGTTTC 0.612 NA 11 18 0 0 0 0 NLRP8 126205 broad.mit.edu 37 19 56459511 56459511 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:56459511G>T uc002qmh.2 + 1 314 c.243G>T c.(241-243)TGG>TGT p.W81C NLRP8_uc010etg.2_Missense_Mutation_p.W81C NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 81 DAPIN. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CAGCCAGCTGGGCAGAGGTGG 0.522 NA 8 22 0.000157383 0.000175665 1 0 ZNF582 147948 broad.mit.edu 37 19 56901748 56901748 + Silent SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:56901748T>C uc002qmz.1 - 3 291 c.132A>G c.(130-132)TCA>TCG p.S44S ZNF582_uc002qmy.2_Silent_p.S75S NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) CCTTACCCAGTGAGACCAGGT 0.488 NA 28 90 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57327096 57327096 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:57327096T>A uc002qnu.2 - 7 3065 c.2714A>T c.(2713-2715)CAG>CTG p.Q905L ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q876L|PEG3_uc002qnv.2_Missense_Mutation_p.Q905L|PEG3_uc002qnw.2_Missense_Mutation_p.Q781L|PEG3_uc002qnx.2_Missense_Mutation_p.Q779L|PEG3_uc010etr.2_Missense_Mutation_p.Q905L NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 905 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AACACTTTTCTGAGGTTTGGC 0.478 NA 13 73 0 0 0 0 ZIM3 114026 broad.mit.edu 37 19 57646302 57646302 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:57646302C>A uc002qnz.1 - 5 1789 c.1403G>T c.(1402-1404)AGA>ATA p.R468I NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 468 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGTGAATTCTTTTCTGGTG 0.423 NA 26 85 3.99e-17 5.51e-17 1 0 ZNF530 348327 broad.mit.edu 37 19 58117342 58117342 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:58117342G>T uc002qpk.2 + 3 669 c.449G>T c.(448-450)GGG>GTG p.G150V ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAAGTGGATGGGGACCAGGCC 0.473 NA 14 54 1.58e-08 1.95e-08 1 0 ZNF329 79673 broad.mit.edu 37 19 58639938 58639938 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr19:58639938C>G uc002qrn.2 - 4 1170 c.933G>C c.(931-933)GGG>GGC p.G311G ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) ATGGTTTTTCCCCTGTATGAG 0.433 NA 41 108 0 0 0 0 APOB 338 broad.mit.edu 37 2 21234732 21234732 + Nonsense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:21234732C>A uc002red.2 - 26 5136 c.5008G>T c.(5008-5010)GAG>TAG p.E1670* NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1670 E -> D (in Ref. 8; AAA51752). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCATTCAGCTCATTCTCCAGC 0.473 NA 10 44 0.000442599 0.000487245 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656161 40656161 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:40656161C>G uc002rrx.2 - 1 1284 c.1260G>C c.(1258-1260)GAG>GAC p.E420D SLC8A1_uc002rry.2_Missense_Mutation_p.E420D|SLC8A1_uc002rrz.2_Missense_Mutation_p.E420D|SLC8A1_uc002rsa.2_Missense_Mutation_p.E420D|SLC8A1_uc002rsd.3_Missense_Mutation_p.E420D|SLC8A1_uc002rsb.1_Missense_Mutation_p.E420D|SLC8A1_uc010fan.1_Missense_Mutation_p.E420D|SLC8A1_uc002rsc.1_Missense_Mutation_p.E420D NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 420 Calx-beta 1.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TACCACAGTTCTCCAGACACT 0.463 NA 19 36 0 0 0 0 EML4 27436 broad.mit.edu 37 2 42472706 42472706 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:42472706A>G uc002rsi.2 + 2 349 c.87A>G c.(85-87)TCA>TCG p.S29S EML4_uc002rsh.3_Silent_p.S29S|EML4_uc010fap.2_Silent_p.S29S NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 29 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 CTCTTGAGTCACGAGTTCAGC 0.383 NA T ALK NSCLC 12 35 0 0 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420144 56420144 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:56420144G>T uc002rzn.2 + 2 1311 c.809G>T c.(808-810)CGC>CTC p.R270L NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 270 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACCCCAGATCGCCCCAAAGCA 0.652 NA 17 56 1.63e-17 2.26e-17 1 0 AFF3 3899 broad.mit.edu 37 2 100210155 100210155 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:100210155G>T uc002tag.2 - 14 2204 c.1968C>A c.(1966-1968)AGC>AGA p.S656R AFF3_uc002taf.2_Missense_Mutation_p.S681R|AFF3_uc010fiq.1_Missense_Mutation_p.S656R|AFF3_uc010yvr.1_Missense_Mutation_p.S809R|AFF3_uc002tah.1_Missense_Mutation_p.S681R NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 656 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GGACGATCCTGCTTAGCCCCC 0.617 NA 40 106 4.41e-31 6.34e-31 1 0 CCDC138 165055 broad.mit.edu 37 2 109473416 109473416 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:109473416G>T uc002ten.1 + 13 1743 c.1683G>T c.(1681-1683)ACG>ACT p.T561T CCDC138_uc002teo.1_Silent_p.T561T|CCDC138_uc002tep.1_Silent_p.T245T|CCDC138_uc010fjm.1_Silent_p.T245T NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 561 0 TCCAGATGACGGTGGAATCTA 0.343 NA 16 41 2.32e-09 2.91e-09 1 0 GPR17 2840 broad.mit.edu 37 2 128409254 128409254 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:128409254A>G uc010yzn.1 + 4 1640 c.1029A>G c.(1027-1029)AAA>AAG p.K343K LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.K343K|GPR17_uc010yzo.1_Silent_p.K315K|GPR17_uc002tpd.2_Silent_p.K315K NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 343 Cytoplasmic (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) TCTGTGGCAAAAGGCTCAAGG 0.632 NA 26 81 0 0 0 0 THSD7B 80731 broad.mit.edu 37 2 138169330 138169330 + Silent SNP A A C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:138169330A>C uc002tva.1 + 13 2754 c.2754A>C c.(2752-2754)GGA>GGC p.G918G THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.G808G 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) CTCACCGAGGACTGCGGGTAC 0.483 NA 19 61 0 0 0 0 EPC2 26122 broad.mit.edu 37 2 149447814 149447814 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:149447814A>G uc010zbt.1 + 2 212 c.185A>G c.(184-186)CAG>CGG p.Q62R NM_015630 NP_056445 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 62 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1)|breast(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0516) ATTTCAGCACAGCAAGTGTTT 0.333 NA 13 25 0 0 0 0 CYTIP 9595 broad.mit.edu 37 2 158272443 158272443 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:158272443G>T uc002tzj.1 - 8 898 c.826C>A c.(826-828)CGG>AGG p.R276R CYTIP_uc010zcl.1_Silent_p.R170R NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 276 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 CTCGTCTGCCGACTGAAGGCA 0.537 NA 16 43 9.17e-09 1.13e-08 1 0 PLA2R1 22925 broad.mit.edu 37 2 160833232 160833232 + Splice_Site SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:160833232C>T uc002ube.1 - 16 2609 c.2402_splice c.e16-1 p.D801_splice PLA2R1_uc010zcp.1_Splice_Site_p.D801_splice|PLA2R1_uc002ubf.2_Splice_Site_p.D801_splice NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 GGTTTCACATCTGCAAAGTGA 0.358 NA 6 26 0 0 0 0 FAP 2191 broad.mit.edu 37 2 163027570 163027570 + Silent SNP G G A rs138589105 byFrequency TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:163027570G>A uc002ucd.2 - 26 2410 c.2202C>T c.(2200-2202)CAC>CAT p.H734H FAP_uc010fpc.2_Silent_p.H283H|FAP_uc010zct.1_Silent_p.H709H|FAP_uc010fpd.2_Silent_p.H213H NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 734 Extracellular (Potential). Charge relay system. endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 CGGATAAGCCGTGGTTCTGGT 0.438 NA 28 66 0 0 0 0 SCN2A 6326 broad.mit.edu 37 2 166245537 166245537 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:166245537T>A uc002udc.2 + 27 5511 c.5221T>A c.(5221-5223)TCA>ACA p.S1741T SCN2A_uc002udd.2_Missense_Mutation_p.S1741T|SCN2A_uc002ude.2_Missense_Mutation_p.S1741T NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1741 IV. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CCCTGGAAGCTCAGTTAAAGG 0.458 NA 47 135 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 169999284 169999284 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:169999284C>A uc002ues.2 - 71 13221 c.13008G>T c.(13006-13008)CAG>CAT p.Q4336H NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4336 EGF-like 16.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGCTGCAGATCTGTTTGCAAA 0.537 NA 14 54 6.32e-08 7.67e-08 1 0 HOXD10 3236 broad.mit.edu 37 2 176981826 176981826 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:176981826C>G uc002ukj.2 + 1 335 c.265C>G c.(265-267)CGA>GGA p.R89G NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 89 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CAGATCTTGTCGAATAGAGCA 0.433 NA 24 71 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179588653 179588653 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:179588653C>T uc010zfg.1 - 70 17825 c.17601G>A c.(17599-17601)ATG>ATA p.M5867I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M2528I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6794 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) TGTAATTGCCCATATCTGAGG 0.423 NA 11 38 0 0 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800594 185800594 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:185800594G>T uc002uph.2 + 4 1065 c.471G>T c.(469-471)GTG>GTT p.V157V NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 157 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GAGTTGTTGTGGATTCAGTTA 0.383 NA 7 36 2.77e-08 3.38e-08 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803491 185803491 + Missense_Mutation SNP A A C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:185803491A>C uc002uph.2 + 4 3962 c.3368A>C c.(3367-3369)AAA>ACA p.K1123T NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1123 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 gGAACCTTTAAAGTGCTTCAG 0.343 NA 12 58 0 0 0 0 SLC39A10 57181 broad.mit.edu 37 2 196578254 196578254 + Nonsense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:196578254G>A uc002utg.3 + 6 1887 c.1673G>A c.(1672-1674)TGG>TAG p.W558* SLC39A10_uc002uth.3_Nonsense_Mutation_p.W558*|SLC39A10_uc010zgp.1_Nonsense_Mutation_p.W108* NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 558 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) GATTCTGACTGGCTTCAACTC 0.323 NA 13 22 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196765106 196765106 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:196765106G>C uc002utj.3 - 28 4549 c.4448C>G c.(4447-4449)GCT>GGT p.A1483G NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1483 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GCGATACGTAGCCACAATTTT 0.458 NA 32 123 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196765116 196765116 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:196765116T>C uc002utj.3 - 28 4539 c.4438A>G c.(4438-4440)AAA>GAA p.K1480E NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1480 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GCCACAATTTTTACAGACAGT 0.463 NA 37 122 0 0 0 0 HECW2 57520 broad.mit.edu 37 2 197183378 197183378 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:197183378C>T uc002utm.1 - 9 2419 c.2236G>A c.(2236-2238)GCT>ACT p.A746T HECW2_uc002utl.1_Missense_Mutation_p.A390T NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 746 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GCAGCTGCAGCTCCCTCCAGG 0.682 NA 13 41 0 0 0 0 MOGAT1 116255 broad.mit.edu 37 2 223554124 223554124 + Silent SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:223554124A>T uc010fws.1 + 3 462 c.414A>T c.(412-414)TCA>TCT p.S138S MOGAT1_uc010fwt.1_Silent_p.S98S NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 138 Helical; (Potential). glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1) 1 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GCTTTACTTCATATCTTCACG 0.428 NA 17 73 0 0 0 0 COL4A3 1285 broad.mit.edu 37 2 228169782 228169782 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:228169782G>A uc002vom.1 + 47 4397 c.4235G>A c.(4234-4236)GGT>GAT p.G1412D COL4A3_uc002von.1_Missense_Mutation_p.G1412D|COL4A3_uc002voo.1_Missense_Mutation_p.G1412D|COL4A3_uc002vop.1_Missense_Mutation_p.G1412D|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'Flank NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1412 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCAACAAAGGTTCTAAAGGA 0.488 NA 7 17 0 0 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563763 228563763 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:228563763C>A uc002vpi.2 - 3 757 c.668G>T c.(667-669)GGT>GTT p.G223V SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.G219V NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 223 Cytoplasmic (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) TGGTGCTTCACCTTCGTGAGT 0.448 NA 15 40 0.000308642 0.000340199 1 0 CCL20 6364 broad.mit.edu 37 2 228681044 228681044 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:228681044G>T uc002vpl.2 + 3 283 c.213G>T c.(211-213)TTG>TTT p.L71F CCL20_uc002vpm.2_Missense_Mutation_p.L70F NM_004591 NP_004582 P78556 CCL20_HUMAN chemokine (C-C motif) ligand 20 isoform 1 71 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity 0 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) AGAAAAAGTTGTCTGTGTGCG 0.338 NA 18 31 3.6e-14 4.83e-14 1 0 SPHKAP 80309 broad.mit.edu 37 2 228855881 228855881 + Silent SNP A A T rs137978320 byFrequency TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:228855881A>T uc002vpq.2 - 11 4841 c.4794T>A c.(4792-4794)CCT>CCA p.P1598P SPHKAP_uc002vpp.2_Silent_p.P1569P|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1598 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGTTCCCGTAGGCGGTCCAG 0.562 NA 10 40 0 0 0 0 ALPPL2 251 broad.mit.edu 37 2 233273006 233273006 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:233273006G>T uc002vss.3 + 6 731 c.678G>T c.(676-678)ATG>ATT p.M226I NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 226 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GAAAGTACATGTTTCCCATGG 0.617 NA 21 98 2.22e-12 2.9e-12 1 0 SIRPA 140885 broad.mit.edu 37 20 1918052 1918052 + Silent SNP G G T rs149536101 by1000genomes TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr20:1918052G>T uc002wfq.2 + 9 1713 c.1353G>T c.(1351-1353)ACG>ACT p.T451T SIRPA_uc010zps.1_Silent_p.T431T|SIRPA_uc002wfr.2_Silent_p.T451T|SIRPA_uc002wfs.2_Silent_p.T451T|SIRPA_uc002wft.2_Silent_p.T455T NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 451 Cytoplasmic (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) ACAACCACACGGAGTATGCCA 0.582 NA 17 61 3.33e-07 3.97e-07 1 0 C20orf26 26074 broad.mit.edu 37 20 20177327 20177327 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr20:20177327G>A uc002wru.2 + 16 1780 c.1704G>A c.(1702-1704)CGG>CGA p.R568R C20orf26_uc010zse.1_Silent_p.R548R NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 568 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CCATTTTCCGGCACTACACCA 0.468 NA 53 69 0 0 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869162 36869162 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr20:36869162A>G uc002xhy.1 - 3 1643 c.1371T>C c.(1369-1371)CCT>CCC p.P457P KIAA1755_uc002xhz.1_Silent_p.P457P NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 457 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) TGTTTCTGCTAGGGCAGGGCA 0.572 NA 21 70 0 0 0 0 ZFP64 55734 broad.mit.edu 37 20 50776766 50776766 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr20:50776766T>C uc002xwl.2 - 5 1008 c.659A>G c.(658-660)AAG>AGG p.K220R ZFP64_uc002xwk.2_Missense_Mutation_p.K220R|ZFP64_uc002xwm.2_Missense_Mutation_p.K218R|ZFP64_uc002xwn.2_Missense_Mutation_p.K166R NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 220 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CCTCAGGTGCTTGTTGAGGCT 0.597 NA 45 115 0 0 0 0 ZNF217 7764 broad.mit.edu 37 20 52198454 52198454 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr20:52198454T>A uc002xwq.3 - 1 1183 c.912A>T c.(910-912)AAA>AAT p.K304N ZNF217_uc010gij.1_Missense_Mutation_p.K296N NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 304 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CAACTTTTCCTTTGGTAGCCA 0.517 NA 57 128 0 0 0 0 BCAS1 8537 broad.mit.edu 37 20 52612559 52612559 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr20:52612559G>T uc002xws.2 - 5 1092 c.754C>A c.(754-756)CAA>AAA p.Q252K BCAS1_uc010zza.1_5'UTR|BCAS1_uc010zzb.1_Missense_Mutation_p.Q155K|BCAS1_uc010gim.2_Missense_Mutation_p.Q155K|BCAS1_uc002xwt.2_Missense_Mutation_p.Q252K|BCAS1_uc010gil.1_Missense_Mutation_p.Q252K NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 252 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CCAAGTTCTTGTCCTTCTTTT 0.473 NA 20 60 7.42e-09 9.19e-09 1 0 PRIC285 85441 broad.mit.edu 37 20 62191627 62191627 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr20:62191627G>A uc002yfm.2 - 18 8446 c.7554C>T c.(7552-7554)ATC>ATT p.I2518I PRIC285_uc002yfl.1_Silent_p.I1949I NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 2518 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) TGAGGACGGCGATGTCCTGGG 0.672 NA 4 7 0 0 0 0 MORC3 23515 broad.mit.edu 37 21 37741308 37741308 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr21:37741308C>G uc002yvi.2 + 15 1718 c.1642C>G c.(1642-1644)CGT>GGT p.R548G NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 548 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 ACTTTCTACTCGTTCCTCAAT 0.299 NA 9 23 0 0 0 0 HPS4 89781 broad.mit.edu 37 22 26873050 26873050 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr22:26873050C>A uc003acl.2 - 4 844 c.185G>T c.(184-186)CGC>CTC p.R62L HPS4_uc003aci.2_Missense_Mutation_p.R57L|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Missense_Mutation_p.R62L|HPS4_uc003aco.1_Missense_Mutation_p.R57L NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 62 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 AGAAACACAGCGGACAACTCC 0.443 NA Hermansky-Pudlak_syndrome 17 48 2.23e-06 2.62e-06 1 0 SLC5A4 6527 broad.mit.edu 37 22 32643427 32643427 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr22:32643427G>T uc003ami.2 - 5 450 c.448C>A c.(448-450)CTC>ATC p.L150I NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 150 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CAGATGAAGAGGGAGAGGATG 0.498 NA 10 41 7.48e-07 8.88e-07 1 0 GRAMD4 23151 broad.mit.edu 37 22 47062734 47062734 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr22:47062734A>G uc003bhx.2 + 9 861 c.822A>G c.(820-822)ATA>ATG p.I274M GRAMD4_uc010had.2_Missense_Mutation_p.I213M NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 274 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) GGTGGCGGATACAGTGGAGCA 0.622 NA 35 90 0 0 0 0 SBF1 6305 broad.mit.edu 37 22 50893510 50893510 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr22:50893510T>C uc003blh.2 - 34 4811 c.4616A>G c.(4615-4617)TAC>TGC p.Y1539C SBF1_uc003ble.2_Missense_Mutation_p.Y15C|SBF1_uc003blf.2_Missense_Mutation_p.Y15C|SBF1_uc011arx.1_Missense_Mutation_p.Y1177C NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1513 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CACATGGTGGTAGCCGAGGAA 0.622 NA 16 34 0 0 0 0 CHL1 10752 broad.mit.edu 37 3 432410 432410 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:432410G>T uc003bou.2 + 20 2720 c.2449G>T c.(2449-2451)GGG>TGG p.G817W CHL1_uc003bot.2_Missense_Mutation_p.G833W|CHL1_uc003bow.1_Missense_Mutation_p.G817W|CHL1_uc011asi.1_Missense_Mutation_p.G833W NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 817 Fibronectin type-III 3.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AGTGATCCATGGGGTGGACGT 0.363 NA 7 33 1.77e-08 2.17e-08 1 0 GRM7 2917 broad.mit.edu 37 3 7494447 7494447 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:7494447C>T uc003bqm.2 + 6 1602 c.1328C>T c.(1327-1329)GCT>GTT p.A443V GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A443V|GRM7_uc003bql.2_Missense_Mutation_p.A443V|GRM7_uc003bqn.1_Missense_Mutation_p.A26V|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 443 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) ATGGAGCAAGCTGGAGGCAAG 0.463 NA 3 11 0 0 0 0 PLCL2 23228 broad.mit.edu 37 3 17051331 17051331 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:17051331C>T uc011awc.1 + 5 574 c.469C>T c.(469-471)CTG>TTG p.L157L PLCL2_uc010het.1_Silent_p.L39L|PLCL2_uc011awd.1_Silent_p.L39L NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 165 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 GTACTTTTTACTGGATGCTGA 0.403 NA 4 30 0 0 0 0 STAC 6769 broad.mit.edu 37 3 36545898 36545898 + Silent SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:36545898A>T uc003cgh.1 + 7 819 c.780A>T c.(778-780)CCA>CCT p.P260P STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.P199P NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 260 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 TTACATATCCAGAAAATGGCA 0.373 NA 3 22 0 0 0 0 LTF 4057 broad.mit.edu 37 3 46479621 46479621 + Splice_Site SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:46479621C>A uc003cpq.2 - 16 1947 c.1909_splice c.e16-1 p.A637_splice LTF_uc003fzr.2_Splice_Site_p.A593_splice|LTF_uc010hjh.2_Splice_Site_p.A635_splice|LTF_uc003cpr.2_Splice_Site_p.A624_splice NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity p.?(1) central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CAAATTTAGCCTGCGACAAAA 0.448 NA 15 95 1.36e-06 1.61e-06 1 0 PFKFB4 5210 broad.mit.edu 37 3 48563099 48563099 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:48563099C>T uc003ctv.2 - 10 1008 c.991G>A c.(991-993)GTC>ATC p.V331I PFKFB4_uc003ctw.2_Missense_Mutation_p.V140I|PFKFB4_uc010hkc.2_Intron|PFKFB4_uc003ctx.2_Missense_Mutation_p.V288I|PFKFB4_uc010hkb.2_Missense_Mutation_p.V324I|PFKFB4_uc011bbm.1_Missense_Mutation_p.V320I|PFKFB4_uc011bbn.1_RNA NM_004567 NP_004558 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2, 331 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TCCTCACAGACGCCCTAGGGA 0.542 NA 5 16 0 0 0 0 QARS 5859 broad.mit.edu 37 3 49142161 49142161 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:49142161C>G uc003cvx.2 - 1 11 c.6G>C c.(4-6)GCG>GCC p.A2A QARS_uc011bcd.1_5'Flank|QARS_uc003cvy.2_5'UTR|QARS_uc011bce.1_Silent_p.A2A|QARS_uc011bcf.1_Silent_p.A2A NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 2 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) AGTCTAGAGCCGCCATTGCAG 0.612 NA 8 45 0 0 0 0 ERC2 26059 broad.mit.edu 37 3 56468959 56468959 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:56468959C>T uc003dhr.1 - 2 333 c.77G>A c.(76-78)CGT>CAT p.R26H NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 26 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTGGCCCAAACGAGGAGACCT 0.488 NA 9 21 0 0 0 0 ZNF654 55279 broad.mit.edu 37 3 88189924 88189924 + Missense_Mutation SNP A A C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:88189924A>C uc003dqv.2 + 1 1663 c.1464A>C c.(1462-1464)GAA>GAC p.E488D CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TGACAAGTGAACATACTTCAT 0.413 NA 10 66 0 0 0 0 OR5H15 403274 broad.mit.edu 37 3 97887715 97887715 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:97887715C>A uc011bgu.1 + 1 172 c.172C>A c.(172-174)CCA>ACA p.P58T NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCTTCATATCCCAATGTACTT 0.413 NA 33 101 9.77e-20 1.37e-19 1 0 IMPG2 50939 broad.mit.edu 37 3 100963523 100963523 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:100963523G>C uc003duq.1 - 13 1855 c.1652C>G c.(1651-1653)TCT>TGT p.S551C IMPG2_uc011bhe.1_Missense_Mutation_p.S414C NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 551 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GGACACATCAGAGTCTTCCAT 0.393 NA 23 76 0 0 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632432 111632432 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:111632432C>T uc010hqa.2 + 3 2013 c.1602C>T c.(1600-1602)ACC>ACT p.T534T PHLDB2_uc003dyc.2_Silent_p.T561T|PHLDB2_uc003dyd.2_Silent_p.T534T|PHLDB2_uc003dyg.2_Silent_p.T534T|PHLDB2_uc003dyh.2_Silent_p.T534T|PHLDB2_uc003dyi.2_Silent_p.T120T|PHLDB2_uc003dyf.3_Silent_p.T534T NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 534 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 GCTTCTTTACCCCCAGGAGCA 0.562 NA 30 84 0 0 0 0 SLC9A10 285335 broad.mit.edu 37 3 111958692 111958692 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:111958692A>G uc003dyu.2 - 12 1663 c.1441T>C c.(1441-1443)TAC>CAC p.Y481H SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.Y433H NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 481 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 CTTACCATGTATGGGTTTTCA 0.308 NA 5 15 0 0 0 0 FBXO40 51725 broad.mit.edu 37 3 121342100 121342100 + Silent SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:121342100C>A uc003eeg.2 + 3 2034 c.1824C>A c.(1822-1824)GCC>GCA p.A608A NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 608 F-box. muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) ATATCTGTGCCACTTTGTTAC 0.507 NA 21 81 1.98e-07 2.39e-07 1 0 IQCB1 9657 broad.mit.edu 37 3 121500720 121500720 + Missense_Mutation SNP G G A rs138646990 TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:121500720G>A uc010hre.1 - 13 1495 c.1280C>T c.(1279-1281)GCG>GTG p.A427V IQCB1_uc003eek.2_Missense_Mutation_p.A294V|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 427 IQ 4. cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) GAATTTAAGCGCCTGGAAGAA 0.388 NA 22 56 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126723963 126723963 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:126723963C>T uc003ejg.2 + 6 1709 c.1705C>T c.(1705-1707)CTC>TTC p.L569F NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 592 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CGTGCCTGACCTCTCAGCTGG 0.657 NA 11 36 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126733570 126733570 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:126733570G>A uc003ejg.2 + 13 2708 c.2704G>A c.(2704-2706)GGG>AGG p.G902R NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 925 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CTGTGAGATCGGGGACGCCAG 0.577 NA 9 21 0 0 0 0 BFSP2 8419 broad.mit.edu 37 3 133119261 133119261 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:133119261G>T uc003epn.1 + 1 472 c.334G>T c.(334-336)GGG>TGG p.G112W NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 112 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 TGAGGACCTAGGGGGCTGCCT 0.607 NA 30 55 6.03e-27 8.66e-27 1 0 KY 339855 broad.mit.edu 37 3 134348510 134348510 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:134348510G>A uc010hty.2 - 4 352 c.290C>T c.(289-291)CCT>CTT p.P97L KY_uc011blw.1_Missense_Mutation_p.P97L|KY_uc011blx.1_Missense_Mutation_p.P76L|KY_uc003eqs.1_Missense_Mutation_p.P117L NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 97 cytoskeleton|Z disc peptidase activity ovary(2) 2 GGCATCTCGAGGGTGGACTTC 0.507 NA 3 7 0 0 0 0 ATR 545 broad.mit.edu 37 3 142186867 142186867 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:142186867T>C uc003eux.3 - 39 6718 c.6596A>G c.(6595-6597)AAT>AGT p.N2199S ATR_uc003euy.1_Missense_Mutation_p.N85S NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2199 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 AATAGCTTTATTGAGGATTTC 0.333 NA Other_conserved_DNA_damage_response_genes 20 61 0 0 0 0 MME 4311 broad.mit.edu 37 3 154866441 154866441 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:154866441G>C uc010hvr.1 + 16 1811 c.1600G>C c.(1600-1602)GAG>CAG p.E534Q MME_uc003fab.1_Missense_Mutation_p.E534Q|MME_uc003fac.1_Missense_Mutation_p.E534Q|MME_uc003fad.1_Missense_Mutation_p.E534Q|MME_uc003fae.1_Missense_Mutation_p.E534Q NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 534 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) GGACAAAGATGAGTGCGTATA 0.348 NA 12 25 0 0 0 0 SCHIP1 29970 broad.mit.edu 37 3 159605505 159605505 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:159605505G>C uc003fcs.1 + 5 1071 c.1005G>C c.(1003-1005)CAG>CAC p.Q335H SCHIP1_uc003fcq.1_Missense_Mutation_p.Q411H|SCHIP1_uc003fcr.1_Missense_Mutation_p.Q324H|SCHIP1_uc003fct.1_Missense_Mutation_p.Q322H|SCHIP1_uc010hvz.1_Missense_Mutation_p.Q295H|SCHIP1_uc003fcu.1_Missense_Mutation_p.Q92H|SCHIP1_uc003fcv.1_Missense_Mutation_p.Q108H NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 335 cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) AGAGCAAACAGAGTTCTTCCT 0.468 NA 55 167 0 0 0 0 NMD3 51068 broad.mit.edu 37 3 160964156 160964156 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:160964156A>G uc003feb.1 + 12 1169 c.1050A>G c.(1048-1050)ACA>ACG p.T350T NMD3_uc003fec.2_Silent_p.T350T|NMD3_uc003fed.1_Silent_p.T350T|NMD3_uc010hwh.2_Silent_p.T170T NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 350 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TACAGAAGACATCTGAAATGA 0.358 NA 9 38 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906463 164906463 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:164906463C>A uc003fej.3 - 2 2600 c.2156G>T c.(2155-2157)AGT>ATT p.S719I SLITRK3_uc003fek.2_Missense_Mutation_p.S719I NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 719 Poly-Gly.|Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 accacccccacttccgccacc 0.453 NA HNSCC(40;0.11) 10 25 1.11e-13 1.48e-13 1 0 SLITRK3 22865 broad.mit.edu 37 3 164908115 164908115 + Silent SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:164908115T>A uc003fej.3 - 2 948 c.504A>T c.(502-504)GCA>GCT p.A168A SLITRK3_uc003fek.2_Silent_p.A168A NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 168 LRR 4.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GGTTCCGAAATGCCCCACTCT 0.383 NA HNSCC(40;0.11) 13 57 0 0 0 0 YEATS2 55689 broad.mit.edu 37 3 183479353 183479353 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:183479353A>T uc003fly.2 + 14 1910 c.1715A>T c.(1714-1716)AAG>ATG p.K572M NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 572 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGTCACCCTAAGGTTCAAAGC 0.413 NA 34 118 0 0 0 0 FETUB 26998 broad.mit.edu 37 3 186358445 186358445 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:186358445C>G uc010hyq.2 + 2 457 c.196C>G c.(196-198)CGA>GGA p.R66G FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.R66G|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Missense_Mutation_p.R66G|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Missense_Mutation_p.R66G NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 66 Cystatin fetuin-B-type 1. extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GAGACTCAACCGAGTGAACGA 0.572 NA 44 132 0 0 0 0 FGF12 2257 broad.mit.edu 37 3 192125893 192125893 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr3:192125893C>T uc003fsx.2 - 1 946 c.120G>A c.(118-120)CTG>CTA p.L40L FGF12_uc003fsy.2_Intron NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 40 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) GCCTCTCGCACAGGGAGCGCC 0.672 NA 33 134 0 0 0 0 ZNF718 255403 broad.mit.edu 37 4 59331 59331 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:59331A>T uc003fzt.3 + 6 145 c.12A>T c.(10-12)TTA>TTT p.L4F ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_Silent_p.V4V|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 4 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AGGAACTCGTAACATTCAGGG 0.408 NA 21 426 0 0 0 0 WHSC1 7468 broad.mit.edu 37 4 1902706 1902706 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:1902706G>T uc003gdz.3 + 2 501 c.325G>T c.(325-327)GGG>TGG p.G109W WHSC1_uc003geb.3_Missense_Mutation_p.G109W|WHSC1_uc003gec.3_Missense_Mutation_p.G109W|WHSC1_uc003ged.3_Missense_Mutation_p.G109W|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.G109W|WHSC1_uc003gdy.1_Missense_Mutation_p.G109W|WHSC1_uc010icd.1_Missense_Mutation_p.G109W|WHSC1_uc003gea.1_Missense_Mutation_p.G109W|WHSC1_uc010ice.1_Missense_Mutation_p.G109W|WHSC1_uc003geg.1_Missense_Mutation_p.G109W|WHSC1_uc003geh.1_Missense_Mutation_p.G109W NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 109 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GAAAGGGATTGGGACACCCCC 0.463 NA T IGH@ MM 25 67 4.23e-11 5.46e-11 1 0 WHSC1 7468 broad.mit.edu 37 4 1980436 1980436 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:1980436C>A uc003gdz.3 + 22 4074 c.3898C>A c.(3898-3900)CCC>ACC p.P1300T WHSC1_uc003geb.3_Missense_Mutation_p.P1300T|WHSC1_uc003gec.3_Missense_Mutation_p.P1300T|WHSC1_uc003ged.3_Missense_Mutation_p.P1300T|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.P519T|WHSC1_uc011bvh.1_Missense_Mutation_p.P361T|WHSC1_uc010icf.2_Missense_Mutation_p.P648T NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1300 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CCACCTCTGCCCCAATTCGTT 0.562 NA T IGH@ MM 27 38 1.34e-20 1.89e-20 1 0 HTT 3064 broad.mit.edu 37 4 3182271 3182271 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:3182271G>A uc011bvq.1 + 37 4793 c.4648G>A c.(4648-4650)GAC>AAC p.D1550N NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1548 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CATAGTCCACGACCTCTTTGT 0.443 NA 25 76 0 0 0 0 WFS1 7466 broad.mit.edu 37 4 6302728 6302728 + Silent SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:6302728G>C uc003giy.2 + 8 1372 c.1206G>C c.(1204-1206)CTG>CTC p.L402L WFS1_uc003gix.2_Silent_p.L402L|WFS1_uc003giz.2_Silent_p.L220L NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 402 Helical; (Potential). endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) GGAACCACCTGGAGCCCTATG 0.607 NA 42 172 0 0 0 0 C4orf23 152992 broad.mit.edu 37 4 8477672 8477672 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:8477672C>T uc003glg.1 + 11 1719 c.1531C>T c.(1531-1533)CAT>TAT p.H511Y C4orf23_uc003glh.1_Missense_Mutation_p.H348Y|C4orf23_uc003gli.1_RNA NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN hypothetical protein LOC152992 isoform 2 740 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding 0 CCCGTTTGCCCATGGGCCTGC 0.622 NA 25 172 0 0 0 0 GABRA2 2555 broad.mit.edu 37 4 46252411 46252411 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:46252411C>G uc003gxc.3 - 9 1943 c.1270G>C c.(1270-1272)GTT>CTT p.V424L GABRA2_uc010igc.2_Missense_Mutation_p.V424L|GABRA2_uc011bzc.1_Missense_Mutation_p.V429L NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 424 Helical; (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTGGAAAAACTATTCTGGAC 0.393 NA 32 84 0 0 0 0 PDGFRA 5156 broad.mit.edu 37 4 55161418 55161418 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:55161418G>T uc003han.3 + 23 3580 c.3249G>T c.(3247-3249)CTG>CTT p.L1083L PDGFRA_uc003haa.2_Silent_p.L843L NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 1083 Ser-rich.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTTCAGACCTGGTGGAAGACA 0.512 NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 30 85 1.62e-16 2.22e-16 1 0 EXOC1 55763 broad.mit.edu 37 4 56763010 56763010 + Missense_Mutation SNP G G T rs142941850 by1000genomes TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:56763010G>T uc003hbe.1 + 16 2239 c.2081G>T c.(2080-2082)CGT>CTT p.R694L EXOC1_uc003hbf.1_Missense_Mutation_p.R694L|EXOC1_uc003hbg.1_Missense_Mutation_p.R679L NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 694 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) AATGCTGAGCGTCGTGGAGAC 0.338 NA 12 36 2.27e-07 2.72e-07 1 0 YTHDC1 91746 broad.mit.edu 37 4 69184563 69184563 + Nonsense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:69184563G>A uc003hdx.2 - 13 2055 c.1702C>T c.(1702-1704)CGA>TGA p.R568* YTHDC1_uc003hdy.2_Nonsense_Mutation_p.R550* NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 568 Arg-rich. upper_aerodigestive_tract(1)|ovary(1) 2 TCCTGGTATCGTGGATCCTTT 0.328 NA 9 77 0 0 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519826 69519826 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:69519826G>A uc011cal.1 - 5 1280 c.1242C>T c.(1240-1242)CTC>CTT p.L414L NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 414 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 TGTCCACACTGAGGGCTGCTC 0.468 NA 50 127 0 0 0 0 BTC 685 broad.mit.edu 37 4 75675872 75675872 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:75675872T>A uc003hig.2 - 4 686 c.339A>T c.(337-339)AGA>AGT p.R113S NM_001729 NP_001720 P35070 BTC_HUMAN betacellulin precursor 113 Extracellular (Potential). positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|skin(1) 2 Lung(101;0.219) CTCTGTCTCCTCTTAGGTAAA 0.398 NA 51 164 0 0 0 0 ART3 419 broad.mit.edu 37 4 77003168 77003168 + Silent SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:77003168T>C uc003hjo.2 + 3 380 c.261T>C c.(259-261)CCT>CCC p.P87P ART3_uc003hji.2_Silent_p.P87P|ART3_uc003hjj.2_Silent_p.P87P|ART3_uc003hjk.2_Silent_p.P87P|ART3_uc010ija.1_Silent_p.P87P|ART3_uc003hjn.2_Silent_p.P87P|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Silent_p.P57P|ART3_uc010ijc.2_Silent_p.P57P|ART3_uc010ijd.2_Silent_p.P57P NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a 87 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTTTCTCCCTATGAATTTTA 0.423 NA 27 53 0 0 0 0 GK2 2712 broad.mit.edu 37 4 80327826 80327826 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:80327826G>A uc003hlu.2 - 1 1547 c.1529C>T c.(1528-1530)TCA>TTA p.S510L NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 510 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 CCAACCCATTGACTTCATTAC 0.443 NA 19 74 0 0 0 0 SLC39A8 64116 broad.mit.edu 37 4 103225478 103225478 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:103225478A>G uc003hwb.1 - 5 1365 c.836T>C c.(835-837)CTA>CCA p.L279P SLC39A8_uc011ceo.1_Missense_Mutation_p.L279P|SLC39A8_uc003hwa.1_Missense_Mutation_p.L212P|SLC39A8_uc003hwc.2_Missense_Mutation_p.L279P NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), 279 Extracellular (Potential). integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) ATATACCTGTAGAGATACCAC 0.348 NA 5 33 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114179511 114179511 + Silent SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:114179511T>C uc003ibe.3 + 13 1430 c.1330T>C c.(1330-1332)TTG>CTG p.L444L ANK2_uc003ibd.3_Silent_p.L423L|ANK2_uc003ibf.3_Silent_p.L444L|ANK2_uc003ibc.2_Silent_p.L420L|ANK2_uc011cgb.1_Silent_p.L459L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 444 ANK 13. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CATGGGCCACTTGAACATTGT 0.532 NA 15 86 0 0 0 0 NUDT6 11162 broad.mit.edu 37 4 123814172 123814172 + Silent SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:123814172C>A uc003iew.2 - 5 794 c.762G>T c.(760-762)CTG>CTT p.L254L FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Silent_p.L85L NM_007083 NP_009014 P53370 NUDT6_HUMAN nudix-type motif 6 isoform a 254 Nudix hydrolase. mitochondrion|nucleus growth factor activity|hydrolase activity 0 CAGTCTTCGCCAGGTCATTGA 0.438 NA 31 95 1.08e-15 1.47e-15 1 0 ANKRD50 57182 broad.mit.edu 37 4 125593009 125593009 + Missense_Mutation SNP T T G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:125593009T>G uc003ifg.3 - 3 1689 c.1423A>C c.(1423-1425)ATG>CTG p.M475L ANKRD50_uc011cgo.1_Missense_Mutation_p.M296L|ANKRD50_uc010inw.2_Missense_Mutation_p.M475L NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 475 central_nervous_system(1) 1 TTCCATATCATCCACAGAGCT 0.413 NA 19 63 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134072306 134072306 + Silent SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:134072306C>A uc003iha.2 + 1 1837 c.1011C>A c.(1009-1011)GCC>GCA p.A337A uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A337A NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 337 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GCCCCAACGCCGTGCCTGCGC 0.607 NA 26 75 2.8e-10 3.55e-10 1 0 MAB21L2 10586 broad.mit.edu 37 4 151504976 151504976 + Silent SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:151504976C>A uc003ilw.2 + 1 1900 c.795C>A c.(793-795)CCC>CCA p.P265P LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 265 nervous system development nucleus p.P265T(1) ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) TGGAGCTACCCGGCCAGCCGC 0.627 NA 23 38 2.89e-11 3.74e-11 1 0 FGA 2243 broad.mit.edu 37 4 155507623 155507623 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:155507623T>C uc003iod.1 - 5 1016 c.958A>G c.(958-960)ACC>GCC p.T320A FGA_uc003ioe.1_Missense_Mutation_p.T320A|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 320 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GGTTTCCAGGTTGCAGTCCCT 0.572 NA 46 123 0 0 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632130 156632130 + Silent SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:156632130C>A uc003iov.2 + 7 1349 c.813C>A c.(811-813)CCC>CCA p.P271P GUCY1A3_uc003iou.2_Silent_p.P271P|GUCY1A3_uc010iqc.2_Silent_p.P271P|GUCY1A3_uc003iow.2_Silent_p.P271P|GUCY1A3_uc010iqd.2_Silent_p.P270P|GUCY1A3_uc003iox.2_Silent_p.P271P|GUCY1A3_uc003ioz.2_Silent_p.P36P|GUCY1A3_uc003ioy.2_Silent_p.P271P|GUCY1A3_uc010iqe.2_Silent_p.P36P|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.P271P NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 271 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CCAGCAAACCCCAGTCCTCGC 0.463 NA 17 48 0.00152264 0.00163351 1 0 FSTL5 56884 broad.mit.edu 37 4 162841715 162841715 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:162841715G>T uc003iqh.2 - 4 686 c.250C>A c.(250-252)CAA>AAA p.Q84K FSTL5_uc003iqi.2_Missense_Mutation_p.Q83K|FSTL5_uc010iqv.2_Missense_Mutation_p.Q83K NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 84 Kazal-like. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CATTCTGCTTGCCCTGTCTCT 0.443 NA 10 21 2.18e-05 2.49e-05 1 0 NPY1R 4886 broad.mit.edu 37 4 164247554 164247554 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:164247554G>T uc003iqm.1 - 2 419 c.153C>A c.(151-153)ATC>ATA p.I51I NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 51 Helical; Name=1; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CACCAAGAATGATCACAGCTC 0.413 NA 28 64 1.89e-17 2.61e-17 1 0 TLL1 7092 broad.mit.edu 37 4 166910564 166910564 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:166910564T>A uc003irh.1 + 2 848 c.201T>A c.(199-201)GAT>GAA p.D67E TLL1_uc011cjn.1_Missense_Mutation_p.D67E|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 67 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CCTTAGATGATGAAGACTTAA 0.333 NA 21 47 0 0 0 0 SPOCK3 50859 broad.mit.edu 37 4 167663155 167663155 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:167663155C>A uc003iri.1 - 10 1137 c.996G>T c.(994-996)AAG>AAT p.K332N SPOCK3_uc011cjp.1_Missense_Mutation_p.K289N|SPOCK3_uc011cjq.1_Missense_Mutation_p.K341N|SPOCK3_uc011cjr.1_Missense_Mutation_p.K212N|SPOCK3_uc003irj.1_Missense_Mutation_p.K329N|SPOCK3_uc011cjs.1_Missense_Mutation_p.K281N|SPOCK3_uc011cjt.1_Missense_Mutation_p.K240N|SPOCK3_uc011cju.1_Missense_Mutation_p.K225N|SPOCK3_uc011cjv.1_Missense_Mutation_p.K234N NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 332 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CACCTAGGAGCTTCTTTACCC 0.378 NA 18 43 1.98e-07 2.39e-07 1 0 ODZ3 55714 broad.mit.edu 37 4 183600970 183600970 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:183600970T>C uc003ivd.1 + 7 1515 c.1478T>C c.(1477-1479)CTG>CCG p.L493P ODZ3_uc003ive.1_5'Flank NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 493 Extracellular (Potential). 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) ATCTGGCATCTGGCTTTTTAT 0.483 NA 11 19 0 0 0 0 PDLIM3 27295 broad.mit.edu 37 4 186446225 186446225 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:186446225G>A uc003ixw.3 - 2 318 c.194C>T c.(193-195)GCG>GTG p.A65V PDLIM3_uc003ixx.3_Missense_Mutation_p.A65V|PDLIM3_uc010isi.2_RNA|PDLIM3_uc003ixy.2_Missense_Mutation_p.A65V|PDLIM3_uc003ixz.2_Missense_Mutation_p.A65V NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 65 PDZ. sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) CCTGTCCTGCGCATCAGCATG 0.493 NA 29 90 0 0 0 0 KLKB1 3818 broad.mit.edu 37 4 187155174 187155174 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:187155174C>A uc003iyy.2 + 4 361 c.290C>A c.(289-291)TCT>TAT p.S97Y KLKB1_uc011clc.1_Translation_Start_Site|KLKB1_uc011cld.1_Missense_Mutation_p.S59Y NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 97 Apple 1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GGTGCAGTTTCTGGACATTCC 0.368 NA 32 84 5.83e-16 7.96e-16 1 0 CTNND2 1501 broad.mit.edu 37 5 11082943 11082943 + Nonsense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:11082943G>A uc003jfa.1 - 16 2798 c.2653C>T c.(2653-2655)CGA>TGA p.R885* CTNND2_uc010itt.2_Nonsense_Mutation_p.R794*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R548*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R452*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R477* NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 885 ARM 8. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ACAGCGGCTCGGATATATACT 0.547 NA 16 36 0 0 0 0 CDH12 1010 broad.mit.edu 37 5 21752113 21752113 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:21752113G>T uc010iuc.2 - 12 2576 c.2118C>A c.(2116-2118)CCC>CCA p.P706P CDH12_uc011cno.1_Silent_p.P666P|CDH12_uc003jgk.2_Silent_p.P706P|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 706 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TATCTTCCATGGGTGGTCTCT 0.453 NA HNSCC(59;0.17) 14 58 6.72e-11 8.64e-11 1 0 CDH12 1010 broad.mit.edu 37 5 21752115 21752115 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:21752115G>T uc010iuc.2 - 12 2574 c.2116C>A c.(2116-2118)CCC>ACC p.P706T CDH12_uc011cno.1_Missense_Mutation_p.P666T|CDH12_uc003jgk.2_Missense_Mutation_p.P706T|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 706 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCTTCCATGGGTGGTCTCTGA 0.448 NA HNSCC(59;0.17) 14 57 6.72e-11 8.64e-11 1 0 CDH9 1007 broad.mit.edu 37 5 26903772 26903772 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:26903772G>T uc003jgs.1 - 6 1142 c.973C>A c.(973-975)CAG>AAG p.Q325K CDH9_uc010iug.2_Missense_Mutation_p.Q325K NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 325 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 ATCCCTTCCTGTGTATCCTTG 0.398 NA 44 112 4.86e-25 6.95e-25 1 0 CDH9 1007 broad.mit.edu 37 5 26988327 26988327 + Silent SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:26988327C>A uc003jgs.1 - 2 283 c.114G>T c.(112-114)GCG>GCT p.A38A CDH9_uc010iug.2_Silent_p.A38A NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 38 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 TTGTCAGACCCGCTATCTTTT 0.393 NA 8 31 0.00307968 0.003284 1 0 PDZD2 23037 broad.mit.edu 37 5 31799682 31799682 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:31799682C>A uc003jhl.2 + 2 715 c.327C>A c.(325-327)CAC>CAA p.H109Q PDZD2_uc003jhm.2_Missense_Mutation_p.H109Q NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 109 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GGAAAACCCACCAGGGTCCTG 0.587 NA 26 87 1.55e-16 2.13e-16 1 0 UGT3A1 133688 broad.mit.edu 37 5 35965518 35965518 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:35965518C>T uc003jjv.1 - 4 970 c.813G>A c.(811-813)TTG>TTA p.L271L UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.L271L|UGT3A1_uc011cor.1_Silent_p.L237L|UGT3A1_uc003jjy.1_Silent_p.L217L NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 271 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTTTTTCCATCAAGCCTCCAA 0.448 NA 23 54 0 0 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54683820 54683820 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:54683820G>A uc003jpy.3 + 19 2337 c.2071G>A c.(2071-2073)GAT>AAT p.D691N SKIV2L2_uc011cqi.1_Missense_Mutation_p.D590N NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 691 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TGGTGAACTGGATCCTTTGTA 0.373 NA 12 29 0 0 0 0 ACTBL2 345651 broad.mit.edu 37 5 56777903 56777903 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:56777903C>T uc003jrm.2 - 1 734 c.632G>A c.(631-633)CGA>CAA p.R211Q NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 211 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) TTTGACATCTCGCACAATCTC 0.552 NA 23 50 0 0 0 0 YTHDC2 64848 broad.mit.edu 37 5 112920103 112920103 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:112920103C>T uc003kqn.2 + 26 3935 c.3752C>T c.(3751-3753)TCT>TTT p.S1251F NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1251 Ser-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TCAGATCAGTCTTCTCTGAAA 0.428 NA 28 46 0 0 0 0 DMXL1 1657 broad.mit.edu 37 5 118505977 118505977 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:118505977T>A uc003ksd.2 + 24 5672 c.5491T>A c.(5491-5493)TCT>ACT p.S1831T DMXL1_uc010jcl.1_Missense_Mutation_p.S1831T NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1831 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTTTGGATCATCTGATACATT 0.353 NA 3 32 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127730926 127730926 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:127730926G>C uc003kuu.2 - 9 1559 c.1120C>G c.(1120-1122)CGC>GGC p.R374G FBN2_uc003kuv.2_Missense_Mutation_p.R341G NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 374 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGTGCACAGCGGCCATTCACC 0.517 NA 8 14 0 0 0 0 SPOCK1 6695 broad.mit.edu 37 5 136476329 136476329 + Missense_Mutation SNP A A C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:136476329A>C uc003lbo.2 - 3 478 c.287T>G c.(286-288)GTG>GGG p.V96G SPOCK1_uc003lbp.2_Missense_Mutation_p.V96G NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 96 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTCACACACACTTTGTGAGG 0.612 NA 5 12 0 0 0 0 CDHR2 54825 broad.mit.edu 37 5 176004720 176004720 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:176004720C>A uc003mem.1 + 14 1499 c.1433C>A c.(1432-1434)CCC>CAC p.P478H CDHR2_uc003men.1_Missense_Mutation_p.P478H NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 478 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GACCACAGGCCCACGTTTCCC 0.602 NA 16 21 1.15e-07 1.39e-07 1 0 TPMT 7172 broad.mit.edu 37 6 18148147 18148147 + Splice_Site SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:18148147C>G uc003ncm.2 - 3 296 c.141_splice c.e3-1 p.Q47_splice TPMT_uc010jpm.1_Splice_Site_p.Q47_splice NM_000367 NP_000358 P51580 TPMT_HUMAN thiopurine S-methyltransferase xenobiotic metabolic process cytosol thiopurine S-methyltransferase activity 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Mercaptopurine(DB01033) CTTTAATAGCCTGAAGAGGAA 0.274 NA 29 69 0 0 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570038 22570038 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:22570038G>T uc003nds.2 + 1 361 c.234G>T c.(232-234)GGG>GGT p.G78G NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 78 0 Ovarian(93;0.163) TCAGCGCGGGGCTGTGGGAAA 0.652 NA 10 14 2.18e-05 2.49e-05 1 0 HIST1H1T 3010 broad.mit.edu 37 6 26107876 26107876 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:26107876G>T uc003ngj.2 - 1 489 c.446C>A c.(445-447)ACC>AAC p.T149N NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 149 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 TCTCTTATTGGTTTTAGCAGT 0.468 NA 34 85 4.32e-19 6.04e-19 1 0 BTN3A3 10384 broad.mit.edu 37 6 26452000 26452000 + Silent SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:26452000A>T uc003nhz.2 + 11 1296 c.1116A>T c.(1114-1116)CCA>CCT p.P372P BTN3A3_uc003nia.2_Silent_p.P330P|BTN3A3_uc011dkn.1_Silent_p.P323P NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 372 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane 0 GGGATCTGCCAGACAACCCTG 0.537 NA 11 50 0 0 0 0 OR2B3 442184 broad.mit.edu 37 6 29054757 29054757 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:29054757T>C uc003nlx.2 - 1 334 c.269A>G c.(268-270)AAG>AGG p.K90R NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 GCTGATGGTCTTTTTGTTGCA 0.443 NA 20 73 0 0 0 0 OR12D2 26529 broad.mit.edu 37 6 29364491 29364491 + Silent SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:29364491C>G uc003nmf.3 + 1 76 c.15C>G c.(13-15)ACC>ACG p.T5T NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGAATACAACCTCAGTCACCG 0.428 NA 39 129 0 0 0 0 LTA 4049 broad.mit.edu 37 6 31540554 31540554 + Missense_Mutation SNP T T G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:31540554T>G uc011dnu.1 + 2 248 c.35T>G c.(34-36)GTG>GGG p.V12G LTA_uc003nue.1_Missense_Mutation_p.V12G|LTA_uc003nuf.2_5'Flank|LTA_uc003nuh.2_5'Flank|LTA_uc003nug.2_5'Flank|LTA_uc010jsr.2_5'Flank|TNF_uc003nui.2_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN lymphotoxin alpha precursor 12 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding 0 Etanercept(DB00005) CTCCCAAGGGTGTGTGGCACC 0.592 NA 35 101 0 0 0 0 MOCS1 4337 broad.mit.edu 37 6 39874378 39874378 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:39874378G>A uc003opb.2 - 10 1804 c.1666C>T c.(1666-1668)CAC>TAC p.H556Y MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Missense_Mutation_p.H540Y|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Missense_Mutation_p.H453Y NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 556 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) AGGGCCACGTGGTGGCACAGA 0.652 NA 21 79 0 0 0 0 NCR2 9436 broad.mit.edu 37 6 41303865 41303865 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:41303865G>A uc003oqh.2 + 2 180 c.93G>A c.(91-93)GTG>GTA p.V31V NCR2_uc003oqi.2_Silent_p.V31V|NCR2_uc003oqj.2_Silent_p.V31V NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 31 Extracellular (Potential).|Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) TTCAAAGTGTGGCAGGGCAGA 0.557 NA 21 54 0 0 0 0 RHAG 6005 broad.mit.edu 37 6 49580244 49580244 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:49580244G>T uc003ozk.3 - 6 873 c.811C>A c.(811-813)CAC>AAC p.H271N RHAG_uc010jzl.2_Missense_Mutation_p.H271N|RHAG_uc010jzm.2_Missense_Mutation_p.H271N NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 271 Helical; (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) TTCTGAATGTGAACCTGTGTG 0.473 NA 12 28 2.27e-07 2.72e-07 1 0 PKHD1 5314 broad.mit.edu 37 6 51768526 51768526 + Splice_Site SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:51768526C>T uc003pah.1 - 43 7142 c.6866_splice c.e43-1 p.D2289_splice PKHD1_uc010jzn.1_Splice_Site_p.D272_splice|PKHD1_uc003pai.2_Splice_Site_p.D2289_splice NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CCTGACCAGTCTAATGTTTCA 0.398 NA 18 50 0 0 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62442586 62442586 + Splice_Site SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:62442586C>A uc003peg.2 - 7 1140 c.893_splice c.e7+1 p.S298_splice NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) AAATGCCTTACCTTTGTGTTT 0.373 NA 29 50 1.08e-15 1.47e-15 1 0 UBE2CBP 90025 broad.mit.edu 37 6 83767585 83767585 + Silent SNP T T G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:83767585T>G uc003pjp.2 - 2 342 c.234A>C c.(232-234)GGA>GGC p.G78G UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Silent_p.G46G NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 78 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) GCAGGTGCAGTCCATCTCCAA 0.463 NA OREG0017549 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 26 0 0 0 0 BACH2 60468 broad.mit.edu 37 6 90660481 90660481 + Silent SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:90660481A>G uc011eab.1 - 7 2153 c.1344T>C c.(1342-1344)TAT>TAC p.Y448Y BACH2_uc003pnw.2_Silent_p.Y448Y|BACH2_uc010kch.2_Silent_p.Y448Y NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 448 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TCACCCCAGAATAAGAATGCA 0.607 NA 36 60 0 0 0 0 FUT9 10690 broad.mit.edu 37 6 96651843 96651843 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:96651843G>T uc003pop.3 + 3 1153 c.812G>T c.(811-813)GGA>GTA p.G271V NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 271 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) GTTGTTCTGGGACCATCTAGG 0.373 NA 5 35 1.24e-05 1.42e-05 1 0 KLHL32 114792 broad.mit.edu 37 6 97512561 97512561 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:97512561C>A uc010kcm.1 + 5 842 c.370C>A c.(370-372)CTG>ATG p.L124M KLHL32_uc003poy.2_Missense_Mutation_p.L124M|KLHL32_uc011ead.1_Missense_Mutation_p.L88M|KLHL32_uc003poz.2_Translation_Start_Site|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 124 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TCACCTACAGCTGTTGGAGCT 0.443 NA 14 32 4.15e-12 5.4e-12 1 0 COL10A1 1300 broad.mit.edu 37 6 116442113 116442113 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:116442113C>T uc003pwm.2 - 3 1262 c.1166G>A c.(1165-1167)GGG>GAG p.G389E NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN type X collagen alpha 1 precursor 389 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1) 1 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) TCCTGGGTACCCTGGTTTTCC 0.597 NA 15 29 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117629982 117629982 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:117629982G>A uc003pxp.1 - 41 6743 c.6544C>T c.(6544-6546)CCA>TCA p.P2182S ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2182 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTTCTTGGTGGCTCCAGTCTC 0.383 NA T GOPC|ROS1 glioblastoma|NSCLC 9 40 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119337960 119337960 + Silent SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:119337960A>T uc003pyj.2 - 5 1830 c.1482T>A c.(1480-1482)ATT>ATA p.I494I FAM184A_uc003pyk.3_Silent_p.I374I|FAM184A_uc003pyl.3_Silent_p.I374I NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 494 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 GGACAGCTTCAATTGCCATAT 0.343 NA 22 65 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129621910 129621910 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:129621910T>A uc003qbn.2 + 22 3172 c.3067T>A c.(3067-3069)TGT>AGT p.C1023S LAMA2_uc003qbo.2_Missense_Mutation_p.C1023S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1023 Laminin EGF-like 11. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGGTAATAATTGTGACCCAAA 0.423 NA 20 53 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129687473 129687473 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:129687473G>T uc003qbn.2 + 33 4932 c.4827G>T c.(4825-4827)CTG>CTT p.L1609L LAMA2_uc003qbo.2_Silent_p.L1609L NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1609 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATAAAATGCTGTATGGTCTTG 0.522 NA 18 27 2.49e-13 3.3e-13 1 0 ENPP3 5169 broad.mit.edu 37 6 132059244 132059244 + Silent SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:132059244T>C uc003qcu.3 + 24 2588 c.2241T>C c.(2239-2241)AGT>AGC p.S747S ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.S747S NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 747 Extracellular (Potential).|Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) ATGTGGTTAGTGGACCAATAT 0.313 NA 7 23 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146625950 146625950 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:146625950T>C uc010khw.1 + 4 1624 c.1154T>C c.(1153-1155)CTG>CCG p.L385P GRM1_uc010khv.1_Missense_Mutation_p.L385P|GRM1_uc003qll.2_Missense_Mutation_p.L385P|GRM1_uc011edz.1_Missense_Mutation_p.L385P|GRM1_uc011eea.1_Missense_Mutation_p.L385P NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 385 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGACACCTTCTGGAAAATCCC 0.443 NA 7 40 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152551704 152551704 + Missense_Mutation SNP T T G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:152551704T>G uc010kiw.2 - 115 21775 c.21173A>C c.(21172-21174)CAA>CCA p.Q7058P SYNE1_uc010kiv.2_Missense_Mutation_p.Q1582P|SYNE1_uc003qos.3_Missense_Mutation_p.Q1582P|SYNE1_uc003qot.3_Missense_Mutation_p.Q6987P|SYNE1_uc003qou.3_Missense_Mutation_p.Q7058P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7058 Cytoplasmic (Potential).|Spectrin 22. 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) CAGTGCATTTTGAACAGAAGC 0.383 NA HNSCC(10;0.0054) 49 157 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152652970 152652970 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:152652970C>A uc010kiw.2 - 78 13452 c.12850G>T c.(12850-12852)GCA>TCA p.A4284S SYNE1_uc003qot.3_Missense_Mutation_p.A4213S|SYNE1_uc003qou.3_Missense_Mutation_p.A4284S|SYNE1_uc010kiz.2_Missense_Mutation_p.A39S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4284 Cytoplasmic (Potential).|Spectrin 12. 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) TCCTGCAATGCCAATGCTAAC 0.373 NA HNSCC(10;0.0054) 24 84 2.4e-15 3.24e-15 1 0 TCP10L2 401285 broad.mit.edu 37 6 167595300 167595300 + Nonsense_Mutation SNP C C T rs146018563 by1000genomes TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr6:167595300C>T uc010kkp.2 + 8 1089 c.958C>T c.(958-960)CGA>TGA p.R320* NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 320 0 GGAAGAAAAACGACATCCAAA 0.527 NA 4 62 0 0 0 0 KIAA0415 9907 broad.mit.edu 37 7 4825067 4825067 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:4825067C>A uc003sne.2 + 8 1036 c.953C>A c.(952-954)TCC>TAC p.S318Y KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'Flank NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 318 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) AAGGGGGACTCCGACCTGCAG 0.622 NA 14 25 4.75e-09 5.92e-09 1 0 ZNF12 7559 broad.mit.edu 37 7 6731759 6731759 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:6731759T>A uc003sqt.1 - 5 1368 c.814A>T c.(814-816)AGT>TGT p.S272C ZNF12_uc011jxa.1_Missense_Mutation_p.S110C|ZNF12_uc003sqs.1_Missense_Mutation_p.S234C NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 272 C2H2-type 1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CCACATTCACTGCATTCATAG 0.398 NA 13 31 0 0 0 0 ICA1 3382 broad.mit.edu 37 7 8272244 8272244 + Silent SNP G G A rs149823604 byFrequency TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:8272244G>A uc003srm.2 - 3 226 c.159C>T c.(157-159)GAC>GAT p.D53D ICA1_uc010ktr.2_Silent_p.D53D|ICA1_uc003srl.2_Silent_p.D41D|ICA1_uc003srn.3_Translation_Start_Site|ICA1_uc003srp.3_Silent_p.D52D|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Silent_p.D53D|ICA1_uc003srr.2_Silent_p.D52D|ICA1_uc003sro.3_Silent_p.D53D|ICA1_uc011jxg.1_Silent_p.D53D|ICA1_uc003srs.1_Silent_p.D53D NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 53 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CCAGGTCCGCGTCAGAGGCAA 0.478 NA 3 17 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21627744 21627744 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:21627744T>A uc003svc.2 + 10 1804 c.1773T>A c.(1771-1773)CAT>CAA p.H591Q NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 591 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCAGCCTACATTACAGCACAC 0.368 NA Kartagener_syndrome 8 16 0 0 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225198 26225198 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:26225198G>T uc003sxq.2 + 4 2152 c.1880G>T c.(1879-1881)TGT>TTT p.C627F NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 627 Leucine-zipper. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 CAAGCACAATGTAACAAAGCT 0.343 NA 21 66 3.62e-10 4.6e-10 1 0 BMPER 168667 broad.mit.edu 37 7 34118705 34118705 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:34118705C>A uc011kap.1 + 12 1429 c.1315C>A c.(1315-1317)CGC>AGC p.R439S NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 439 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CCTCACCGTGCGCTGGAACGG 0.662 NA 26 52 4.11e-13 5.45e-13 1 0 ELMO1 9844 broad.mit.edu 37 7 37264526 37264526 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:37264526G>T uc003tfk.1 - 9 966 c.659C>A c.(658-660)GCG>GAG p.A220E ELMO1_uc011kbc.1_Missense_Mutation_p.A124E|ELMO1_uc010kxg.1_Missense_Mutation_p.A220E NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 220 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GATCTCCTGCGCCACTTTCTG 0.527 NA 21 42 4.35e-09 5.44e-09 1 0 C7orf10 79783 broad.mit.edu 37 7 40277269 40277269 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:40277269G>T uc003thn.1 + 7 565 c.520G>T c.(520-522)GGT>TGT p.G174C C7orf10_uc003thm.1_Missense_Mutation_p.G144C|C7orf10_uc003tho.1_Missense_Mutation_p.G174C NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 181 transferase activity ovary(2) 2 TCAGCGAGCTGGTTATGATGC 0.423 NA 16 65 8.81e-21 1.24e-20 1 0 ADCY1 107 broad.mit.edu 37 7 45614759 45614759 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:45614759A>T uc003tne.3 + 1 635 c.617A>T c.(616-618)AAG>ATG p.K206M ADCY1_uc003tnd.2_Translation_Start_Site NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 206 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GTCCCCGCCAAGCGCCCACGT 0.662 NA 11 16 0 0 0 0 AUTS2 26053 broad.mit.edu 37 7 70255493 70255493 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:70255493G>C uc003tvw.3 + 19 4034 c.3291G>C c.(3289-3291)AGG>AGC p.R1097S AUTS2_uc003tvx.3_Missense_Mutation_p.R1073S|AUTS2_uc011keg.1_Missense_Mutation_p.R549S NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1097 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TCCTGCTAAGGAACGACCCGC 0.577 NA 7 7 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82546068 82546068 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:82546068G>T uc003uhx.2 - 7 11523 c.11234C>A c.(11233-11235)ACA>AAA p.T3745K PCLO_uc003uhv.2_Missense_Mutation_p.T3745K|PCLO_uc010lec.2_Missense_Mutation_p.T710K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3676 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCTGGAAACTGTGCCCATTGT 0.478 NA 14 41 4.37e-10 5.53e-10 1 0 SEMA3E 9723 broad.mit.edu 37 7 83021872 83021872 + Silent SNP T T G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:83021872T>G uc003uhy.1 - 14 2132 c.1666A>C c.(1666-1668)AGG>CGG p.R556R NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 556 axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) ACGTCTCACCTTTTTGCATGT 0.438 NA 16 35 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87056134 87056134 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:87056134A>T uc003uiv.1 - 16 2072 c.1996T>A c.(1996-1998)TCT>ACT p.S666T ABCB4_uc003uiw.1_Missense_Mutation_p.S666T|ABCB4_uc003uix.1_Missense_Mutation_p.S666T NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 666 Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTCTGAGTAGAATGCCTAAAT 0.383 NA 19 31 0 0 0 0 SLC25A13 10165 broad.mit.edu 37 7 95775870 95775870 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:95775870T>C uc003uof.3 - 14 1641 c.1450A>G c.(1450-1452)AAG>GAG p.K484E SLC25A13_uc003uog.3_Missense_Mutation_p.K485E|SLC25A13_uc011kik.1_Missense_Mutation_p.K376E NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 484 Solcar 2. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) AAAGTTACCTTGTAGATCCCA 0.388 NA 27 71 0 0 0 0 STAG3 10734 broad.mit.edu 37 7 99787212 99787212 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:99787212G>T uc003utx.1 + 8 1015 c.860G>T c.(859-861)CGC>CTC p.R287L STAG3_uc010lgs.1_Missense_Mutation_p.R75L|STAG3_uc011kjk.1_Missense_Mutation_p.R229L NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 287 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTGGAGAAACGCAAAGAGGTG 0.547 NA 19 101 0.000720815 0.00078473 1 0 CFTR 1080 broad.mit.edu 37 7 117251690 117251690 + Silent SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:117251690T>A uc003vjd.2 + 20 3327 c.3195T>A c.(3193-3195)CTT>CTA p.L1065L CFTR_uc011knq.1_Silent_p.L471L NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 1065 Cytoplasmic (Potential).|ABC transmembrane type-1 2. L -> R (in CF).|L -> P (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TATGGACACTTCGTGCCTTCG 0.413 NA Cystic_Fibrosis 6 21 0 0 0 0 KCND2 3751 broad.mit.edu 37 7 119915618 119915618 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:119915618G>A uc003vjj.1 + 1 1897 c.932G>A c.(931-933)CGC>CAC p.R311H NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 311 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CAAGGCCTGCGCATCCTGGGG 0.507 NA 20 59 0 0 0 0 DGKI 9162 broad.mit.edu 37 7 137308275 137308275 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:137308275T>C uc003vtt.2 - 7 831 c.830A>G c.(829-831)CAC>CGC p.H277R DGKI_uc003vtu.2_5'UTR NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 277 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CTCTTTACTGTGGAAGGAGAA 0.443 NA 35 91 0 0 0 0 AKR1D1 6718 broad.mit.edu 37 7 137790055 137790055 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:137790055G>T uc003vtz.2 + 5 528 c.459G>T c.(457-459)GCG>GCT p.A153A AKR1D1_uc011kqb.1_Silent_p.A153A|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_RNA|AKR1D1_uc011kqe.1_Silent_p.A153A|AKR1D1_uc011kqf.1_Intron|AKR1D1_uc010lmy.1_RNA NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 153 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 CTCTACAGGCGATGGAAGCTT 0.453 NA 47 135 1.36e-18 1.9e-18 1 0 TAS2R40 259286 broad.mit.edu 37 7 142919874 142919874 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:142919874A>T uc011ksx.1 + 1 703 c.703A>T c.(703-705)AGG>TGG p.R235W NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 235 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) CACAGGGTCCAGGGACCCCAG 0.507 NA 28 76 0 0 0 0 SSPO 23145 broad.mit.edu 37 7 149517793 149517793 + Missense_Mutation SNP G G C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:149517793G>C uc010lpk.2 + 87 12230 c.12230G>C c.(12229-12231)CGC>CCC p.R4077P SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4077 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCTGCCCCCGCCGCTGCTCA 0.657 NA 4 17 0 0 0 0 AGAP3 116988 broad.mit.edu 37 7 150814821 150814821 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:150814821C>T uc003wjg.1 + 5 666 c.663C>T c.(661-663)TTC>TTT p.F221F AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.F221F|AGAP3_uc010lpy.1_Silent_p.F221F|AGAP3_uc003wjh.1_Silent_p.F401F NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 185 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 TCTGCAGCTTCCGCAACGCCA 0.602 NA 39 88 0 0 0 0 SOX7 83595 broad.mit.edu 37 8 10583720 10583720 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:10583720C>T uc003wtf.2 - 2 774 c.695G>A c.(694-696)CGC>CAC p.R232H SOX7_uc011kwz.1_Missense_Mutation_p.R284H NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 232 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GGGGATGCGGCGGGGATGGCC 0.682 NA 17 14 0 0 0 0 MTMR7 9108 broad.mit.edu 37 8 17206577 17206577 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:17206577T>C uc003wxm.2 - 5 721 c.482A>G c.(481-483)TAT>TGT p.Y161C MTMR7_uc003wxn.2_5'UTR NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 161 Myotubularin phosphatase. protein tyrosine phosphatase activity skin(1) 1 Colorectal(111;0.112) TTCAGTAGGATAAGAGTCACA 0.473 NA 16 46 0 0 0 0 NAT1 9 broad.mit.edu 37 8 18079810 18079810 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:18079810A>T uc010ltd.2 + 5 621 c.254A>T c.(253-255)GAG>GTG p.E85V NAT1_uc003wyt.2_Missense_Mutation_p.E147V|NAT1_uc003wyu.2_Missense_Mutation_p.E85V|NAT1_uc003wyv.2_Missense_Mutation_p.E85V|NAT1_uc010ltc.2_Missense_Mutation_p.E85V|NAT1_uc003wys.2_Missense_Mutation_p.E147V|NAT1_uc003wyr.2_Missense_Mutation_p.E85V|NAT1_uc003wyq.2_Missense_Mutation_p.E85V|NAT1_uc011kyl.1_Missense_Mutation_p.E85V NM_001160179 NP_001153651 P18440 ARY1_HUMAN N-acetyltransferase 1 isoform a 85 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity 0 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) ATTGGTTTTGAGACCACGATG 0.473 NA 39 53 0 0 0 0 KIF13B 23303 broad.mit.edu 37 8 29006204 29006204 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:29006204G>A uc003xhh.3 - 16 1762 c.1703C>T c.(1702-1704)TCT>TTT p.S568F KIF13B_uc003xhj.2_Missense_Mutation_p.S465F|KIF13B_uc010lvf.1_Missense_Mutation_p.S504F NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 568 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CAGCTGCTCAGAACTATTCTC 0.463 NA 26 52 0 0 0 0 OPRK1 4986 broad.mit.edu 37 8 54147356 54147356 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:54147356G>T uc003xrh.1 - 2 948 c.573C>A c.(571-573)ATC>ATA p.I191I OPRK1_uc003xri.1_Silent_p.I191I|OPRK1_uc010lyc.1_Silent_p.I102I NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 191 Helical; Name=4; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CTATTGCAGAGATGCCAACAG 0.448 NA 18 83 6.5e-13 8.57e-13 1 0 CHD7 55636 broad.mit.edu 37 8 61765575 61765575 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:61765575C>T uc003xue.2 + 31 6768 c.6291C>T c.(6289-6291)GAC>GAT p.D2097D NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2097 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GACGGCATGACCGAGACTTGC 0.547 NA 16 20 0 0 0 0 SULF1 23213 broad.mit.edu 37 8 70512983 70512983 + Nonsense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:70512983G>T uc010lza.1 + 9 1597 c.880G>T c.(880-882)GAG>TAG p.E294* SULF1_uc003xyd.2_Nonsense_Mutation_p.E294*|SULF1_uc003xye.2_Nonsense_Mutation_p.E294*|SULF1_uc003xyf.2_Nonsense_Mutation_p.E294*|SULF1_uc003xyg.2_Nonsense_Mutation_p.E294*|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 294 apoptosis|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 central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TGATTCTGTGGAGAGGGTAAG 0.443 NA 31 118 2.47e-13 3.29e-13 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764098 77764098 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:77764098G>A uc003yav.2 + 10 5193 c.4806G>A c.(4804-4806)CAG>CAA p.Q1602Q ZFHX4_uc003yau.1_Silent_p.Q1647Q|ZFHX4_uc003yaw.1_Silent_p.Q1602Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1602 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCCTGGCCAGGGGATGTTAG 0.473 NA HNSCC(33;0.089) 12 50 0 0 0 0 IMPA1 3612 broad.mit.edu 37 8 82591364 82591364 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:82591364T>C uc003ych.2 - 4 426 c.299A>G c.(298-300)CAT>CGT p.H100R IMPA1_uc011lfq.1_Missense_Mutation_p.H159R|IMPA1_uc011lfr.1_Missense_Mutation_p.H100R NM_005536 NP_005527 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 isoform 100 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(1) 1 Lithium(DB01356) AACATACCTATGTACAAAGTT 0.338 NA 25 32 0 0 0 0 CA3 761 broad.mit.edu 37 8 86351946 86351946 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:86351946G>T uc003ydj.2 + 2 123 c.40G>T c.(40-42)GAC>TAC p.D14Y CA13_uc003ydf.1_RNA|CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 14 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 CCTAGGTCCTGACCACTGGCA 0.473 NA 8 68 7.48e-07 8.88e-07 1 0 RUNX1T1 862 broad.mit.edu 37 8 92998530 92998530 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:92998530C>A uc003yfd.2 - 8 1185 c.1101G>T c.(1099-1101)ATG>ATT p.M367I RUNX1T1_uc003yfc.1_Missense_Mutation_p.M340I|RUNX1T1_uc003yfe.1_Missense_Mutation_p.M330I|RUNX1T1_uc010mao.2_Missense_Mutation_p.M340I|RUNX1T1_uc011lgi.1_Missense_Mutation_p.M378I|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.M330I NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 367 Important for oligomerization. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTTTTTCTACCATGTCCATTA 0.438 NA 38 71 1.47e-24 2.1e-24 1 0 PTDSS1 9791 broad.mit.edu 37 8 97321822 97321822 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:97321822C>T uc003yht.1 + 9 1147 c.1045C>T c.(1045-1047)CGC>TGC p.R349C PTDSS1_uc003yhu.1_Missense_Mutation_p.R203C NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 349 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) ACAGTGCAAGCGCGTAGGAAC 0.423 NA 13 43 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103326146 103326146 + Splice_Site SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:103326146T>C uc003ykr.1 - 16 1928 c.1895_splice c.e16-1 p.K632_splice UBR5_uc003yks.1_Splice_Site_p.K632_splice NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GTCGTCGTTCTTAGACAACAA 0.363 NA 14 100 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113256715 113256715 + Missense_Mutation SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:113256715G>A uc003ynu.2 - 65 10469 c.10310C>T c.(10309-10311)ACC>ATC p.T3437I CSMD3_uc003yns.2_Missense_Mutation_p.T2639I|CSMD3_uc003ynt.2_Missense_Mutation_p.T3397I|CSMD3_uc011lhx.1_Missense_Mutation_p.T3268I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3437 Extracellular (Potential).|Sushi 28. 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 AGGCTGACAGGTATAAATCAG 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 61 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113318355 113318355 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:113318355C>G uc003ynu.2 - 51 8111 c.7952G>C c.(7951-7953)GGA>GCA p.G2651A CSMD3_uc003yns.2_Missense_Mutation_p.G1853A|CSMD3_uc003ynt.2_Missense_Mutation_p.G2611A|CSMD3_uc011lhx.1_Missense_Mutation_p.G2547A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2651 Extracellular (Potential).|Sushi 15. 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 AACTCGCGTTCCTACCAAATA 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 53 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113569034 113569034 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:113569034C>A uc003ynu.2 - 25 4351 c.4192G>T c.(4192-4194)GGG>TGG p.G1398W CSMD3_uc003yns.2_Missense_Mutation_p.G670W|CSMD3_uc003ynt.2_Missense_Mutation_p.G1358W|CSMD3_uc011lhx.1_Missense_Mutation_p.G1294W NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1398 Extracellular (Potential).|Sushi 7. 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 CTTCTCTCCCCTGTCATGCAC 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 57 0.00010058 0.000112833 1 0 UTP23 84294 broad.mit.edu 37 8 117782554 117782554 + Silent SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:117782554G>T uc003yoc.2 + 2 413 c.312G>T c.(310-312)CTG>CTT p.L104L NM_032334 NP_115710 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, 104 rRNA processing nucleolus 0 CAGAATGTCTGCTTTCCATGG 0.378 NA 63 94 6.29e-36 9.09e-36 1 0 ADCY8 114 broad.mit.edu 37 8 132051742 132051742 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:132051742C>A uc003ytd.3 - 1 1094 c.838G>T c.(838-840)GCC>TCC p.A280S ADCY8_uc010mds.2_Missense_Mutation_p.A280S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 280 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTGTAGGTGGCGAAGAGCGTG 0.667 NA HNSCC(32;0.087) 15 54 1.52e-12 2e-12 1 0 SLA 6503 broad.mit.edu 37 8 134057291 134057291 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:134057291C>A uc003ytz.2 - 7 1254 c.422G>T c.(421-423)TGG>TTG p.W141L TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.W158L|SLA_uc011ljf.1_Missense_Mutation_p.W33L|SLA_uc011ljg.1_Intron|SLA_uc011ljd.1_Missense_Mutation_p.W181L NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 141 SH2. endosome SH3/SH2 adaptor activity lung(1)|liver(1) 2 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) AATGTAGTACCAGTTGTTGGG 0.512 NA 16 68 1.57e-10 2.01e-10 1 0 C8orf31 286122 broad.mit.edu 37 8 144130634 144130634 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:144130634C>G uc003yxp.1 + 5 716 c.364C>G c.(364-366)CGG>GGG p.R122G C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA NM_173687 NP_775958 Q8N9H6 CH031_HUMAN hypothetical protein LOC286122 122 ovary(1) 1 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) aggattctctcggcaccacgg 0.02 NA 49 75 0 0 0 0 NRBP2 340371 broad.mit.edu 37 8 144921093 144921093 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr8:144921093C>T uc011lkt.1 - 9 846 c.706G>A c.(706-708)GCT>ACT p.A236T NRBP2_uc003yzv.2_5'UTR|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_5'UTR|NRBP2_uc011lks.1_5'UTR|NRBP2_uc003yzy.2_5'UTR NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 236 Protein kinase. negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2) 2 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ATGTCCACAGCGGTCCCATCG 0.632 NA 10 24 0 0 0 0 PTPRD 5789 broad.mit.edu 37 9 8636759 8636759 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:8636759G>T uc003zkk.2 - 12 861 c.150C>A c.(148-150)GAC>GAA p.D50E PTPRD_uc003zkp.2_Missense_Mutation_p.D50E|PTPRD_uc003zkq.2_Missense_Mutation_p.D50E|PTPRD_uc003zkr.2_Missense_Mutation_p.D50E|PTPRD_uc003zks.2_Missense_Mutation_p.D50E|PTPRD_uc003zkl.2_Missense_Mutation_p.D50E|PTPRD_uc003zkm.2_Missense_Mutation_p.D50E|PTPRD_uc003zkn.2_Missense_Mutation_p.D50E|PTPRD_uc003zko.2_Missense_Mutation_p.D50E|PTPRD_uc003zkt.1_Missense_Mutation_p.D50E NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 50 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAGGTCTTGGGTCTCCCGTAG 0.443 NA TSP Lung(15;0.13) 12 47 5.51e-06 6.36e-06 1 0 C9orf82 79886 broad.mit.edu 37 9 26861107 26861107 + Silent SNP G G A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:26861107G>A uc003zqc.2 - 5 708 c.696C>T c.(694-696)TCC>TCT p.S232S C9orf82_uc003zqb.2_Silent_p.S87S NM_024828 NP_079104 Q9H8G2 CI082_HUMAN hypothetical protein LOC79886 232 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) TCTCTCTCACGGATGAAGCAG 0.323 NA 35 45 0 0 0 0 CEP78 84131 broad.mit.edu 37 9 80880327 80880327 + Silent SNP A A C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:80880327A>C uc004akx.2 + 14 1941 c.1665A>C c.(1663-1665)TCA>TCC p.S555S CEP78_uc004aky.3_Silent_p.S556S|CEP78_uc010mpp.2_Silent_p.S556S|CEP78_uc004akz.1_Silent_p.S43S NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 555 G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 TAGATCAGTCAGATTTTCAAT 0.438 NA 2 2 0 0 0 0 INVS 27130 broad.mit.edu 37 9 103002466 103002466 + Missense_Mutation SNP A A G rs41312220 byFrequency TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:103002466A>G uc004bap.1 + 6 952 c.740A>G c.(739-741)AAT>AGT p.N247S INVS_uc010mta.1_Missense_Mutation_p.N151S|INVS_uc011lve.1_Missense_Mutation_p.N151S|INVS_uc004bao.1_Missense_Mutation_p.N247S|INVS_uc004baq.1_Missense_Mutation_p.N151S|INVS_uc004bar.1_Missense_Mutation_p.N151S|INVS_uc010mtb.1_5'UTR NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 247 ANK 7. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) GAAAGCTGCAATATAACGTCT 0.438 NA 4 59 0 0 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111970306 111970306 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:111970306C>T uc004bdz.1 - 18 2071 c.1776G>A c.(1774-1776)GAG>GAA p.E592E NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 592 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 GAAGAGTTTTCTCCGAGACTT 0.413 NA 18 39 0 0 0 0 MUSK 4593 broad.mit.edu 37 9 113562629 113562629 + Nonsense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:113562629C>A uc004bey.2 + 14 2069 c.1971C>A c.(1969-1971)TAC>TAA p.Y657* MUSK_uc004bez.1_Nonsense_Mutation_p.Y237* NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 657 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TCTTTGAATACATGGCCTATG 0.507 NA 31 45 8.89e-20 1.25e-19 1 0 PTGS1 5742 broad.mit.edu 37 9 125145892 125145892 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:125145892G>T uc004bmg.1 + 8 1002 c.867G>T c.(865-867)GAG>GAT p.E289D PTGS1_uc011lys.1_Missense_Mutation_p.E264D|PTGS1_uc010mwb.1_Missense_Mutation_p.E180D|PTGS1_uc004bmf.1_Missense_Mutation_p.E289D|PTGS1_uc004bmh.1_Missense_Mutation_p.E180D|PTGS1_uc011lyt.1_Missense_Mutation_p.E180D NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 289 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TGGGCCAGGAGGTGTTTGGGC 0.622 NA 18 43 2.94e-08 3.59e-08 1 0 GBGT1 26301 broad.mit.edu 37 9 136029278 136029278 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:136029278T>A uc004ccw.2 - 7 1011 c.730A>T c.(730-732)AGG>TGG p.R244W RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Missense_Mutation_p.R197W|GBGT1_uc010nab.2_3'UTR|GBGT1_uc011mcx.1_Missense_Mutation_p.R227W|GBGT1_uc010nac.1_Missense_Mutation_p.R108W|GBGT1_uc004ccy.1_3'UTR NM_021996 NP_068836 Q8N5D6 GBGT1_HUMAN globoside 244 Lumenal (Potential). carbohydrate metabolic process|glycolipid biosynthetic process Golgi membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) GAAACACGCCTGCGCTCATAG 0.597 NA 32 56 0 0 0 0 CACNA1B 774 broad.mit.edu 37 9 140772650 140772650 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr9:140772650A>G uc004cog.2 + 1 410 c.265A>G c.(265-267)AAG>GAG p.K89E uc004cof.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 89 Cytoplasmic (Potential).|I. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CAAATACGCGAAGCGCATCAC 0.423 NA 4 9 0 0 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 28807464 28807464 + Nonsense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:28807464A>T uc004dby.2 + 2 512 c.4A>T c.(4-6)AAA>TAA p.K2* NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 2 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 CTGGAAGATGAAAGCTCCGAT 0.348 NA 13 13 0 0 0 0 CXorf21 80231 broad.mit.edu 37 X 30577959 30577959 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:30577959G>T uc004dcg.1 - 3 790 c.514C>A c.(514-516)CAG>AAG p.Q172K NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 172 ovary(1) 1 TCACTGGGCTGAGTAGAAATG 0.428 NA 24 21 3.08e-08 3.75e-08 1 0 DMD 1756 broad.mit.edu 37 X 31496420 31496420 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:31496420C>G uc004dda.1 - 59 8984 c.8740G>C c.(8740-8742)GAG>CAG p.E2914Q DMD_uc004dcq.1_Missense_Mutation_p.E185Q|DMD_uc004dcr.1_Missense_Mutation_p.E454Q|DMD_uc004dcs.1_Missense_Mutation_p.E454Q|DMD_uc004dct.1_Missense_Mutation_p.E454Q|DMD_uc004dcu.1_Missense_Mutation_p.E454Q|DMD_uc004dcv.1_Missense_Mutation_p.E454Q|DMD_uc004dcw.2_Missense_Mutation_p.E1570Q|DMD_uc004dcx.2_Missense_Mutation_p.E1573Q|DMD_uc004dcz.2_Missense_Mutation_p.E2791Q|DMD_uc004dcy.1_Missense_Mutation_p.E2910Q|DMD_uc004ddb.1_Missense_Mutation_p.E2906Q NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2914 Spectrin 21. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTTTCCCACTCAGTATTGACC 0.498 NA 18 23 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32519917 32519917 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:32519917C>A uc004dda.1 - 19 2579 c.2335G>T c.(2335-2337)GAT>TAT p.D779Y DMD_uc004dcz.2_Missense_Mutation_p.D656Y|DMD_uc004dcy.1_Missense_Mutation_p.D775Y|DMD_uc004ddb.1_Missense_Mutation_p.D771Y|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 779 Spectrin 4. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGCTGGCATCTTGCAGTTTT 0.413 NA 6 3 8.13e-05 9.14e-05 1 0 CXorf22 170063 broad.mit.edu 37 X 35993268 35993268 + Silent SNP T T G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:35993268T>G uc004ddj.2 + 14 2318 c.2259T>G c.(2257-2259)CCT>CCG p.P753P CXorf22_uc010ngv.2_Intron NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 753 large_intestine(1)|lung(1)|ovary(1) 3 TTTCAGGGCCTTCTGTCCTTA 0.284 NA 23 27 0 0 0 0 ITIH5L 347365 broad.mit.edu 37 X 54785330 54785330 + Missense_Mutation SNP T T C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:54785330T>C uc004dtj.2 - 8 1207 c.1177A>G c.(1177-1179)ATC>GTC p.I393V NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 393 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GTCAGGAAGATGATAAGAGGG 0.612 NA 11 6 0 0 0 0 KLF8 11279 broad.mit.edu 37 X 56310806 56310806 + Missense_Mutation SNP A A T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:56310806A>T uc004dur.2 + 6 1905 c.959A>T c.(958-960)GAG>GTG p.E320V KLF8_uc011mop.1_3'UTR|KLF8_uc010nkh.2_RNA NM_007250 NP_009181 O95600 KLF8_HUMAN Kruppel-like factor 8 isoform 1 320 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CGCTCAGATGAGCTCACTCGC 0.498 NA 4 6 0 0 0 0 TEX11 56159 broad.mit.edu 37 X 70026595 70026595 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:70026595G>T uc004dyl.2 - 10 859 c.697C>A c.(697-699)CAG>AAG p.Q233K TEX11_uc004dym.2_Missense_Mutation_p.Q218K NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 233 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) TTATTCTTCTGGGTTTCTACT 0.303 NA 3 5 0.00024832 0.000275081 1 0 MED12 9968 broad.mit.edu 37 X 70345277 70345277 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:70345277G>T uc004dyy.2 + 16 2502 c.2303G>T c.(2302-2304)CGC>CTC p.R768L MED12_uc011mpq.1_Missense_Mutation_p.R768L|MED12_uc004dyz.2_Missense_Mutation_p.R768L|MED12_uc004dza.2_Missense_Mutation_p.R615L NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 768 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GATGATGCCCGCCATGCCATC 0.532 NA 12 8 5.51e-06 6.36e-06 1 0 MED12 9968 broad.mit.edu 37 X 70353025 70353025 + Missense_Mutation SNP A A G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:70353025A>G uc004dyy.2 + 33 4779 c.4580A>G c.(4579-4581)CAG>CGG p.Q1527R MED12_uc011mpq.1_Missense_Mutation_p.Q1527R|MED12_uc004dyz.2_Missense_Mutation_p.Q1527R|MED12_uc004dza.2_Missense_Mutation_p.Q1374R|MED12_uc010nla.2_Missense_Mutation_p.Q153R NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1527 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) AAACCAAAGCAGCTTATGCAT 0.463 NA 30 34 0 0 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931678 102931678 + Missense_Mutation SNP T T A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:102931678T>A uc004ekw.2 - 4 1510 c.278A>T c.(277-279)GAA>GTA p.E93V MORF4L2_uc004ela.2_Missense_Mutation_p.E93V|MORF4L2_uc004ekx.2_Missense_Mutation_p.E93V|MORF4L2_uc004elb.2_Missense_Mutation_p.E93V|MORF4L2_uc004eky.2_Missense_Mutation_p.E93V|MORF4L2_uc010nos.2_Missense_Mutation_p.E93V|MORF4L2_uc004ekz.2_Missense_Mutation_p.E93V|MORF4L2_uc011mry.1_Missense_Mutation_p.E93V|MORF4L2_uc011mrz.1_Missense_Mutation_p.E93V|MORF4L2_uc004elc.2_Missense_Mutation_p.E93V|MORF4L2_uc004elf.2_Missense_Mutation_p.E93V|MORF4L2_uc004ele.2_Missense_Mutation_p.E93V|MORF4L2_uc011msa.1_Missense_Mutation_p.E93V|MORF4L2_uc011msb.1_Missense_Mutation_p.E93V|MORF4L2_uc011msc.1_Missense_Mutation_p.E93V|MORF4L2_uc011msd.1_Missense_Mutation_p.E93V|MORF4L2_uc004eld.2_Missense_Mutation_p.E93V NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 93 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 CTGAGGTGCTTCGCTGGTACT 0.542 NA 31 31 0 0 0 0 NRK 203447 broad.mit.edu 37 X 105168850 105168850 + Missense_Mutation SNP G G T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:105168850G>T uc004emd.2 + 19 3442 c.3139G>T c.(3139-3141)GCA>TCA p.A1047S NRK_uc010npc.1_Missense_Mutation_p.A715S NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1047 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GGAAGAACATGCAGCCAATAT 0.517 NA HNSCC(51;0.14) 9 10 3.1e-07 3.7e-07 1 0 ODZ1 10178 broad.mit.edu 37 X 123630881 123630881 + Missense_Mutation SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:123630881C>T uc004euj.2 - 20 3744 c.3680G>A c.(3679-3681)AGT>AAT p.S1227N ODZ1_uc011muj.1_Missense_Mutation_p.S1226N|ODZ1_uc010nqy.2_Missense_Mutation_p.S1227N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1227 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTCCAAAATACTAACGGAGTT 0.398 NA 15 16 0 0 0 0 CDR1 1038 broad.mit.edu 37 X 139865920 139865920 + Silent SNP C C T TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chrX:139865920C>T uc004fbg.1 - 1 804 c.612G>A c.(610-612)AAG>AAA p.K204K uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 204 5.|5 X 6 AA approximate repeats. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AAATCCAGGTCTTCCAGCCAA 0.448 NA 56 39 0 0 0 0 PGM1 5236 broad.mit.edu 37 1 64100692 64100693 + Splice_Site INS - - G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr1:64100692_64100693insG uc001dbh.2 + 5 1086 c.873_splice c.e5+2 p.G291_splice PGM1_uc010ooy.1_Splice_Site_p.G94_splice|PGM1_uc010ooz.1_Splice_Site_p.G309_splice NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 GGAGATGGGGTGGGTATAAGTG 0.545 NA 18 84 --- --- --- --- NA NA NA NA IGSF22 283284 broad.mit.edu 37 11 18741425 18741425 + Frame_Shift_Del DEL G G - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:18741425delG uc009yht.2 - 7 724 c.534delC c.(532-534)CCCfs p.P178fs IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 178 Lys-rich. ovary(4)|large_intestine(2)|kidney(1) 7 GCTTCTTCTTGGGAGCAGGGG 0.488 NA 53 109 --- --- --- --- NA NA NA NA MAML2 84441 broad.mit.edu 37 11 95713064 95713065 + Frame_Shift_Del DEL GT GT - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr11:95713064_95713065delGT uc001pfw.1 - 5 3803_3804 c.2518_2519delAC c.(2518-2520)ACCfs p.T840fs NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 840 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) AGTTAAAATGGTGTGTGTTGAA 0.421 NA T MECT1|CRTC3 salivary gland mucoepidermoid 8 24 --- --- --- --- NA NA NA NA ACSM3 6296 broad.mit.edu 37 16 20793102 20793103 + Frame_Shift_Ins INS - - C TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr16:20793102_20793103insC uc002dhr.2 + 7 1199_1200 c.1012_1013insC c.(1012-1014)ATAfs p.I338fs ACSM3_uc002dhq.2_Frame_Shift_Ins_p.I338fs|ACSM3_uc010vba.1_Frame_Shift_Ins_p.I367fs|ERI2_uc002dhs.2_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 338 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 ACAGAATGATATAACCAGGTAA 0.406 NA 21 51 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579514 7579514 + Frame_Shift_Del DEL G G - rs144386518 TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:7579514delG uc002gim.2 - 4 367 c.173delC c.(172-174)CCAfs p.P58fs TP53_uc002gig.1_Frame_Shift_Del_p.P58fs|TP53_uc002gih.2_Frame_Shift_Del_p.P58fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P58fs|TP53_uc010cni.1_Frame_Shift_Del_p.P58fs|TP53_uc002gij.2_Frame_Shift_Del_p.P58fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P19fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P73fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 58 Interaction with HRMT1L2. P -> T (in a sporadic cancer; somatic mutation).|P -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATCTGGACCTGGGTCTTCAGT 0.602 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 86 300 --- --- --- --- NA NA NA NA ABCA10 10349 broad.mit.edu 37 17 67148622 67148622 + Frame_Shift_Del DEL C C - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr17:67148622delC uc010dfa.1 - 36 5016 c.4137delG c.(4135-4137)TGGfs p.W1379fs ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Frame_Shift_Del_p.W371fs|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1379 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) GAAGTATCTGCCTAAAGATAA 0.403 NA 12 63 --- --- --- --- NA NA NA NA MAP2 4133 broad.mit.edu 37 2 210559334 210559334 + Frame_Shift_Del DEL G G - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr2:210559334delG uc002vde.1 + 7 2688 c.2440delG c.(2440-2442)GGCfs p.G814fs MAP2_uc002vdc.1_Frame_Shift_Del_p.G814fs|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Del_p.G810fs NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 814 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGATCTGGCAGGCACAAGGTC 0.473 NA 30 120 --- --- --- --- NA NA NA NA SUN5 140732 broad.mit.edu 37 20 31590391 31590392 + Splice_Site DEL AC AC - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr20:31590391_31590392delAC uc002wyi.2 - 3 304 c.211_splice c.e3+1 p.S71_splice NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like spermatogenesis skin(1) 1 GTATATACGTACACACACATCC 0.554 NA 12 57 --- --- --- --- NA NA NA NA TACC3 10460 broad.mit.edu 37 4 1730308 1730308 + Frame_Shift_Del DEL C C - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:1730308delC uc003gdo.2 + 4 1287 c.1179delC c.(1177-1179)GACfs p.D393fs TACC3_uc010ibz.2_Frame_Shift_Del_p.D393fs|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 393 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CAGGAGAGGACCCCCCCATGC 0.612 NA 29 85 --- --- --- --- NA NA NA NA FSTL5 56884 broad.mit.edu 37 4 162376271 162376271 + Frame_Shift_Del DEL G G - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr4:162376271delG uc003iqh.2 - 15 2162 c.1726delC c.(1726-1728)CTGfs p.L576fs FSTL5_uc003iqi.2_Frame_Shift_Del_p.L575fs|FSTL5_uc010iqv.2_Frame_Shift_Del_p.L566fs NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 576 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCACTGGCCAGGGTAATTACC 0.403 NA 9 33 --- --- --- --- NA NA NA NA NSD1 64324 broad.mit.edu 37 5 176638682 176638682 + Frame_Shift_Del DEL G G - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr5:176638682delG uc003mfr.3 + 5 3420 c.3282delG c.(3280-3282)ATGfs p.M1094fs NSD1_uc003mft.3_Frame_Shift_Del_p.M825fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.M991fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.M742fs NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1094 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) TTCAGATAATGGGCCACTTAA 0.448 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 24 49 --- --- --- --- NA NA NA NA SRRT 51593 broad.mit.edu 37 7 100484691 100484691 + Frame_Shift_Del DEL C C - TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ba8a3e47-ee55-4c88-b29f-6d161ffae1d0 deac6477-626d-42a3-857d-c35b3cc86d2d g.chr7:100484691delC uc003uwy.2 + 16 2113 c.1845delC c.(1843-1845)TACfs p.Y615fs SRRT_uc010lhl.1_Frame_Shift_Del_p.Y614fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.Y614fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.Y615fs NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 615 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 TCCTCCTTTACCTGCGCATCG 0.602 NA 65 193 --- --- --- --- NA NA NA NA