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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CCDC27 148870 broad.mit.edu 37 1 3669321 3669321 + Silent SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:3669321C>G uc001akv.2 + 1 357 c.276C>G c.(274-276)CTC>CTG p.L92L NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 92 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CACGCACGCTCAGCAAGTCGG 0.637 NaN 0 0 0 0.002836 0 31 23 KIAA0090 23065 broad.mit.edu 37 1 19549914 19549914 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:19549914G>A uc001bbo.2 - 19 2395 c.2352C>T c.(2350-2352)ATC>ATT p.I784I KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.I783I|KIAA0090_uc001bbq.2_Silent_p.I783I|KIAA0090_uc001bbr.2_Silent_p.I762I NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 784 DUF1620.|Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) CTGAATGCACGATATGGACAG 0.537 NaN 0 0 0 0.00361 0 86 163 PTP4A2 8073 broad.mit.edu 37 1 32384631 32384631 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:32384631C>G uc001bty.1 - 2 1030 c.36G>C c.(34-36)GAG>GAC p.E12D PTP4A2_uc010ogs.1_Missense_Mutation_p.E12D|PTP4A2_uc001btz.1_Missense_Mutation_p.E12D NM_080391 NP_536316 Q12974 TP4A2_HUMAN protein tyrosine phosphatase type IVA, member 2 12 early endosome|plasma membrane prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) AACGCATGTTCTCATAGGAGA 0.413 NaN 0 0 0 0.003271 0 34 42 MACF1 23499 broad.mit.edu 37 1 39550081 39550081 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:39550081C>T uc010ois.1 + 3 396 c.191C>T c.(190-192)CCT>CTT p.P64L MACF1_uc010oir.1_Silent_p.L60L NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 64 Actin-binding. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGCTGGACCCTGCAGAGCGT 0.632 NaN 0 0 0 0.008871 0 19 20 SSBP3 23648 broad.mit.edu 37 1 54867580 54867580 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:54867580C>G uc001cxe.2 - 4 528 c.230G>C c.(229-231)AGA>ACA p.R77T SSBP3_uc001cxf.2_Missense_Mutation_p.R77T|SSBP3_uc001cxg.2_Missense_Mutation_p.R77T NM_145716 NP_663768 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 isoform a 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding 0 ACAAGTGTCTCTCCTTTCAGG 0.368 NaN 0 0 0 0.00361 0 42 57 ABCD3 5825 broad.mit.edu 37 1 94964399 94964399 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:94964399C>G uc001dqn.3 + 18 1627 c.1525C>G c.(1525-1527)CCT>GCT p.P509A ABCD3_uc010oto.1_Missense_Mutation_p.P533A|ABCD3_uc010otp.1_Missense_Mutation_p.P436A|ABCD3_uc009wdr.2_Missense_Mutation_p.P399A|ABCD3_uc001dqo.3_Missense_Mutation_p.P197A NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 509 ABC transporter. 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) ATTTTATGTTCCTCAGGTAAG 0.318 NaN 0 0 0 0.00623 0 38 42 AGL 178 broad.mit.edu 37 1 100366410 100366410 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:100366410G>A uc001dsi.1 + 26 3981 c.3581G>A c.(3580-3582)GGC>GAC p.G1194D AGL_uc001dsj.1_Missense_Mutation_p.G1194D|AGL_uc001dsk.1_Missense_Mutation_p.G1194D|AGL_uc001dsl.1_Missense_Mutation_p.G1194D|AGL_uc001dsm.1_Missense_Mutation_p.G1178D|AGL_uc001dsn.1_Missense_Mutation_p.G1177D NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1194 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTGCCTGCTGGCACACTGGTA 0.318 NaN 0 0 0 0.000248 0 4 144 ANP32E 81611 broad.mit.edu 37 1 150198965 150198965 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:150198965G>A uc001etw.2 - 5 1026 c.656C>T c.(655-657)TCA>TTA p.S219L ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.S171L|ANP32E_uc010pbv.1_Missense_Mutation_p.S178L|ANP32E_uc001etv.3_Missense_Mutation_p.S219L|ANP32E_uc010pbw.1_Missense_Mutation_p.H164Y NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 219 Asp/Glu-rich (highly acidic). cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CATTAAGTATGAGAGGCCCAC 0.274 NaN 0 0 0 0.00361 0 43 52 CRTC2 200186 broad.mit.edu 37 1 153921728 153921728 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:153921728G>C uc010ped.1 - 12 1607 c.1537C>G c.(1537-1539)CAG>GAG p.Q513E DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.Q49E NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 513 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAACAAGACTGAGAGGGCAGC 0.617 NaN 0 0 0 0.002522 0 45 45 YY1AP1 55249 broad.mit.edu 37 1 155629952 155629952 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:155629952C>G uc001fln.2 - 11 1911 c.1887G>C c.(1885-1887)CAG>CAC p.Q629H YY1AP1_uc001flg.2_Missense_Mutation_p.Q368H|YY1AP1_uc010pgg.1_Missense_Mutation_p.Q468H|YY1AP1_uc010pgh.1_Missense_Mutation_p.Q572H|YY1AP1_uc010pgi.1_Missense_Mutation_p.Q721H|YY1AP1_uc001flh.2_Missense_Mutation_p.Q701H|YY1AP1_uc009wqt.2_Missense_Mutation_p.Q552H|YY1AP1_uc001flk.2_Missense_Mutation_p.Q572H|YY1AP1_uc001fll.2_Missense_Mutation_p.Q583H|YY1AP1_uc009wqv.2_Missense_Mutation_p.Q300H|YY1AP1_uc001flm.2_Missense_Mutation_p.Q572H|YY1AP1_uc001fli.2_Missense_Mutation_p.Q583H|YY1AP1_uc009wqu.2_Missense_Mutation_p.Q416H|YY1AP1_uc001flj.2_Missense_Mutation_p.Q563H|YY1AP1_uc009wqw.2_Missense_Mutation_p.Q552H|YY1AP1_uc001flo.2_Missense_Mutation_p.Q517H|YY1AP1_uc001flp.2_Missense_Mutation_p.Q583H NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 629 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TCTGGGGACTCTGGGCCACAG 0.542 NaN 0 0 0 0.00361 0 48 44 HMCN1 83872 broad.mit.edu 37 1 186034488 186034488 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:186034488C>T uc001grq.1 + 49 7861 c.7632C>T c.(7630-7632)CAC>CAT p.H2544H NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2544 Ig-like C2-type 23. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGGTGCCACACACTGGAAGAT 0.458 NaN 0 0 0 0.000248 0 4 34 HMCN1 83872 broad.mit.edu 37 1 186062644 186062644 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:186062644G>C uc001grq.1 + 66 10268 c.10039G>C c.(10039-10041)GAT>CAT p.D3347H NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3347 Ig-like C2-type 32. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGGTAATAAAGATGAAGCAGA 0.383 NaN 0 0 0 0.00361 0 62 62 CR2 1380 broad.mit.edu 37 1 207647168 207647168 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:207647168G>C uc001hfw.2 + 11 2095 c.2001G>C c.(1999-2001)CAG>CAC p.Q667H CR2_uc001hfv.2_Missense_Mutation_p.Q726H|CR2_uc009xch.2_Missense_Mutation_p.Q667H NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 667 Sushi 11.|Extracellular (Potential). Q -> D (in Ref. 10; AA sequence). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 ATGTGAGACAGAGTCTTCAAG 0.418 NaN 0 0 0 0.00361 0 66 71 CD34 947 broad.mit.edu 37 1 208061201 208061201 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:208061201G>A uc001hgw.1 - 8 1298 c.1040C>T c.(1039-1041)CCT>CTT p.P347L CD34_uc001hgv.1_Missense_Mutation_p.P189L|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Missense_Mutation_p.P212L NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 347 Cytoplasmic (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 CTGAGCCTCAGGGGAGGTCCC 0.557 NaN 0 0 0 0.001786 0 32 26 CENPF 1063 broad.mit.edu 37 1 214826232 214826232 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:214826232C>T uc001hkm.2 + 16 8396 c.8222C>T c.(8221-8223)TCA>TTA p.S2741L NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2837 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGTCTCAGTTCACAGAAGCTG 0.328 NaN 0 0 0 0.00623 0 40 39 C1orf58 148362 broad.mit.edu 37 1 222902115 222902115 + Missense_Mutation SNP A A G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:222902115A>G uc001hnq.1 + 9 1096 c.701A>G c.(700-702)TAT>TGT p.Y234C C1orf58_uc010put.1_Missense_Mutation_p.Y202C|C1orf58_uc010puu.1_Missense_Mutation_p.Y234C|C1orf58_uc010puv.1_Missense_Mutation_p.Y202C|uc001hnr.1_RNA NM_144695 NP_653296 Q5VW32 BROX_HUMAN Bro1-domain-containing protein 234 BRO1. membrane 0 GBM - Glioblastoma multiforme(131;0.0667) GAGCCTGCATATTCTGCCAAA 0.318 NaN 0 0 0 0.00278 0 22 25 MTR 4548 broad.mit.edu 37 1 237060354 237060354 + Nonsense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:237060354C>G uc001hyi.3 + 32 4070 c.3647C>G c.(3646-3648)TCA>TGA p.S1216* MTR_uc010pxw.1_Nonsense_Mutation_p.S809*|MTR_uc010pxx.1_Nonsense_Mutation_p.S1165*|MTR_uc010pxy.1_Nonsense_Mutation_p.S1070* NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 1216 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TCAGCAGTCTCAGGCCTCTAC 0.403 NaN 0 0 0 0.00361 0 103 115 RYR2 6262 broad.mit.edu 37 1 237949319 237949319 + Silent SNP T T A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:237949319T>A uc001hyl.1 + 91 13431 c.13311T>A c.(13309-13311)TCT>TCA p.S4437S RYR2_uc010pya.1_Silent_p.S852S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4437 Potential.|Glu-rich (acidic). 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) aaACCAAATCTGAACCTGAAA 0.338 NaN 0 0 0 0.006214 0 10 5 HNRNPU 3192 broad.mit.edu 37 1 245018742 245018742 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:245018742C>G uc001iaz.1 - 12 2554 c.2336G>C c.(2335-2337)AGA>ACA p.R779T HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.R503T|HNRNPU_uc001iba.1_Missense_Mutation_p.R760T NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 779 Gly-rich. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) GTAGTTCCCTCTGTTGGGCAT 0.478 NaN 0 0 0 0.00361 0 99 163 NLRP3 114548 broad.mit.edu 37 1 247607346 247607346 + Silent SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr1:247607346C>G uc001icr.2 + 9 2880 c.2742C>G c.(2740-2742)CTC>CTG p.L914L NLRP3_uc001ics.2_Silent_p.L857L|NLRP3_uc001icu.2_Silent_p.L914L|NLRP3_uc001icw.2_Silent_p.L857L|NLRP3_uc001icv.2_Silent_p.L800L|NLRP3_uc010pyw.1_Silent_p.L892L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 914 LRR 7. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATCAGAATCTCACGCACCTTT 0.517 NaN 0 0 0 0.003271 0 34 31 MSRB2 22921 broad.mit.edu 37 10 23399191 23399191 + Silent SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:23399191G>T uc001iro.2 + 3 351 c.240G>T c.(238-240)CTG>CTT p.L80L NM_012228 NP_036360 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 precursor 80 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 L-Methionine(DB00134) GGATCTACCTGAATAACAAGG 0.428 NaN 1 0 2.4624e-09 0.008871 2.8746e-09 20 22 GAD2 2572 broad.mit.edu 37 10 26559631 26559631 + Silent SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:26559631C>A uc001isp.2 + 10 1541 c.1038C>A c.(1036-1038)CCC>CCA p.P346P GAD2_uc001isq.2_Silent_p.P346P NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 346 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CATTTGACCCCCTCTTAGCTG 0.488 NaN 1 0 2.65773e-34 0.00361 3.20136e-34 80 69 KIF5B 3799 broad.mit.edu 37 10 32311875 32311875 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:32311875C>T uc001iwe.3 - 16 2285 c.1815G>A c.(1813-1815)GTG>GTA p.V605V NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 605 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) TGCAACGTTTCACCATGGTTT 0.403 NaN 0 0 0 0.001523 0 22 31 RTKN2 219790 broad.mit.edu 37 10 63978015 63978015 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:63978015C>G uc001jlw.2 - 8 924 c.827G>C c.(826-828)CGA>CCA p.R276P RTKN2_uc009xpf.1_Missense_Mutation_p.R57P NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 276 signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) GGCAACTAGTCGGCAGCACAT 0.368 NaN 0 0 0 0.002852 0 41 50 UNC5B 219699 broad.mit.edu 37 10 73053303 73053303 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:73053303G>C uc001jro.2 + 12 2359 c.1914G>C c.(1912-1914)AAG>AAC p.K638N UNC5B_uc001jrp.2_Missense_Mutation_p.K627N NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 638 Cytoplasmic (Potential).|ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 TTCAGCTCAAGACCCAGGCCC 0.637 NaN 0 0 0 0.003271 0 32 48 CDHR1 92211 broad.mit.edu 37 10 85973981 85973981 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:85973981G>C uc001kcv.2 + 17 2184 c.2184G>C c.(2182-2184)AAG>AAC p.K728N CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.K432N|CDHR1_uc001kcx.2_Missense_Mutation_p.K42N NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 728 Cytoplasmic (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 GGCGCAACAAGAAGTCTAACA 0.642 NaN 0 0 0 0.00361 0 42 35 NOC3L 64318 broad.mit.edu 37 10 96106204 96106204 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:96106204G>C uc001kjq.1 - 11 1455 c.1367C>G c.(1366-1368)TCT>TGT p.S456C NOC3L_uc009xuk.1_Missense_Mutation_p.S241C NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 456 Potential. nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) TCTTGATAGAGATTTTCTCTT 0.269 NaN 0 0 0 0.007413 0 18 41 CRTAC1 55118 broad.mit.edu 37 10 99664461 99664461 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:99664461G>C uc001kou.1 - 7 1317 c.961C>G c.(961-963)CTG>GTG p.L321V CRTAC1_uc001kov.2_Missense_Mutation_p.L310V|CRTAC1_uc001kot.1_Missense_Mutation_p.L111V NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 321 FG-GAP 3; atypical. proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CTCATTTGCAGATAGAGGCGG 0.473 NaN 0 0 0 0.00361 0 52 78 PPRC1 23082 broad.mit.edu 37 10 103897653 103897653 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:103897653C>T uc001kum.2 + 2 239 c.200C>T c.(199-201)TCT>TTT p.S67F PPRC1_uc001kun.2_5'UTR|PPRC1_uc010qqj.1_Missense_Mutation_p.S67F|PPRC1_uc009xxa.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GTCAGTCTCTCTCGGCTGGGC 0.562 NaN 0 0 0 0.001523 0 21 26 PSD 5662 broad.mit.edu 37 10 104173719 104173719 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr10:104173719C>T uc001kvg.1 - 5 1887 c.1360G>A c.(1360-1362)GAC>AAC p.D454N PSD_uc001kvh.1_Missense_Mutation_p.D75N|PSD_uc009xxd.1_Missense_Mutation_p.D454N NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 454 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCTGGTGGGTCGGGCCGGGGT 0.662 NaN 0 0 0 0.00361 0 47 32 SIGIRR 59307 broad.mit.edu 37 11 407866 407866 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:407866G>C uc001lpd.2 - 5 762 c.432C>G c.(430-432)CTC>CTG p.L144L SIGIRR_uc001lpf.2_Silent_p.L144L|SIGIRR_uc001lpe.1_Silent_p.L144L|SIGIRR_uc001lpg.2_Silent_p.L144L NM_001135054 NP_001128526 Q6IA17 SIGIR_HUMAN single Ig IL-1R-related molecule 144 Cytoplasmic (Potential). acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGCACGTTGAGACGGCACT 0.687 NaN 0 0 0 0.00361 0 55 3 OR8J3 81168 broad.mit.edu 37 11 55905037 55905037 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:55905037G>C uc010riz.1 - 1 158 c.158C>G c.(157-159)TCT>TGT p.S53C NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TTGAAGTCGAGAGTCAACACT 0.473 NaN 0 0 0 0.00361 0 94 96 SLC36A4 120103 broad.mit.edu 37 11 92916047 92916047 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:92916047C>G uc001pdn.2 - 4 381 c.284G>C c.(283-285)AGC>ACC p.S95T SLC36A4_uc001pdm.2_5'UTR NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 95 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AAACACAAGGCTGATTGGTCC 0.328 NaN 0 0 0 0.00361 0 51 57 EI24 9538 broad.mit.edu 37 11 125448904 125448904 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:125448904C>T uc001qca.2 + 7 743 c.501C>T c.(499-501)GTC>GTT p.V167V EI24_uc001qcb.2_Silent_p.V167V|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Silent_p.V167V|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Silent_p.V153V|EI24_uc010sbf.1_RNA NM_004879 NP_004870 O14681 EI24_HUMAN etoposide induced 2.4 isoform 1 167 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TCCCTAGTGTCAGCAAAATAA 0.443 NaN 0 0 0 0.00308 0 5 1 KCNJ5 3762 broad.mit.edu 37 11 128782060 128782060 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr11:128782060G>C uc001qet.2 + 2 1206 c.892G>C c.(892-894)GAG>CAG p.E298Q KCNJ5_uc009zck.2_Missense_Mutation_p.E298Q|KCNJ5_uc001qew.2_Missense_Mutation_p.E298Q NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 298 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GCATCAGGAAGAGTTTGAAGT 0.527 NaN 0 0 0 0.00361 0 49 4 STYK1 55359 broad.mit.edu 37 12 10772796 10772796 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:10772796C>T uc001qys.2 - 11 1737 c.1216G>A c.(1216-1218)GCT>ACT p.A406T NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 406 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 CCGGCCACAGCTGCATACAGT 0.483 NaN HNSCC(73;0.22) 0 0 0 0.00361 0 123 130 PDE3A 5139 broad.mit.edu 37 12 20774241 20774241 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:20774241G>A uc001reh.1 + 5 1458 c.1436G>A c.(1435-1437)TGG>TAG p.W479* NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 479 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) CCTGATTCTTGGAATAATCCA 0.378 NaN 0 0 0 0.001368 0 13 19 SOX5 6660 broad.mit.edu 37 12 23893927 23893927 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:23893927C>G uc001rfw.2 - 5 717 c.615G>C c.(613-615)ATG>ATC p.M205I SOX5_uc001rfx.2_Missense_Mutation_p.M192I|SOX5_uc001rfy.2_Missense_Mutation_p.M192I|SOX5_uc010siv.1_Missense_Mutation_p.M192I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.M157I NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 205 Potential. transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GCTGGTTGATCATACCCATGA 0.438 NaN 0 0 0 0.001786 0 31 36 TENC1 23371 broad.mit.edu 37 12 53454002 53454002 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:53454002G>A uc001sbp.2 + 18 2712 c.2577G>A c.(2575-2577)TTG>TTA p.L859L TENC1_uc001sbl.2_Silent_p.L735L|TENC1_uc001sbn.2_Silent_p.L869L|TENC1_uc001sbq.2_Intron|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.L354L|TENC1_uc001sbs.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 859 Pro-rich. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 GGTACCCATTGCCTGGGCACC 0.637 NaN 0 0 0 0.004482 0 7 7 ESYT1 23344 broad.mit.edu 37 12 56536837 56536837 + Silent SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:56536837C>G uc001sjq.2 + 28 3074 c.3024C>G c.(3022-3024)CCC>CCG p.P1008P ESYT1_uc001sjr.2_Silent_p.P1018P NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 1008 C2 5. integral to membrane ovary(4)|skin(1) 5 CTCCTGATCCCTATGTGTCAC 0.522 NaN 0 0 0 0.00361 0 75 85 HCFC2 29915 broad.mit.edu 37 12 104476336 104476336 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:104476336C>T uc001tkj.3 + 6 929 c.826C>T c.(826-828)CAT>TAT p.H276Y HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 276 Kelch 4. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 GACTTCACCTCATGATTGTGA 0.333 NaN 0 0 0 0.002299 0 21 38 RNF10 9921 broad.mit.edu 37 12 121001667 121001667 + Missense_Mutation SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:121001667G>T uc001typ.3 + 10 2069 c.1586G>T c.(1585-1587)CGG>CTG p.R529L RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R440L NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 529 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCCTCGTGCGGGAGTACGGC 0.572 NaN 1 0 5.41795e-27 0.00361 6.49664e-27 78 111 TMEM132D 121256 broad.mit.edu 37 12 130185145 130185145 + Missense_Mutation SNP A A T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:130185145A>T uc009zyl.1 - 2 506 c.178T>A c.(178-180)TTC>ATC p.F60I NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 60 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTCAGGAAGAAGGAGACGTCC 0.552 NaN 0 0 0 0.006999 0 41 40 STOML3 161003 broad.mit.edu 37 13 39544479 39544479 + Missense_Mutation SNP T T A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr13:39544479T>A uc001uwx.2 - 5 497 c.359A>T c.(358-360)TAT>TTT p.Y120F STOML3_uc010tez.1_Missense_Mutation_p.Y111F NM_145286 NP_660329 Q8TAV4 STML3_HUMAN stomatin-like 3 isoform 1 120 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) GATTCTGTAATAGACAACTCC 0.433 NaN 0 0 0 0.00361 0 69 86 THSD1 55901 broad.mit.edu 37 13 52952521 52952521 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr13:52952521G>A uc001vgo.2 - 5 2129 c.1584C>T c.(1582-1584)TTC>TTT p.F528F THSD1_uc001vgp.2_Silent_p.F475F|THSD1_uc010tgz.1_Silent_p.F149F|THSD1_uc010aea.2_5'UTR NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 528 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GGCGGTAGCTGAACAGAGGTG 0.552 NaN 0 0 0 0.001168 0 5 256 RBM26 64062 broad.mit.edu 37 13 79916956 79916956 + Nonsense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr13:79916956G>C uc001vkz.2 - 17 2290 c.2276C>G c.(2275-2277)TCA>TGA p.S759* RBM26_uc001vky.2_Nonsense_Mutation_p.S730*|RBM26_uc001vla.2_Nonsense_Mutation_p.S733*|RBM26_uc010tia.1_Nonsense_Mutation_p.S114*|RBM26_uc001vkx.2_Nonsense_Mutation_p.S469* NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 757 Potential. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CTCCAGTTTTGAAATTAACAT 0.244 NaN 0 0 0 0.00278 0 19 42 PRMT5 10419 broad.mit.edu 37 14 23398498 23398498 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:23398498C>T uc001whm.1 - 1 164 c.73G>A c.(73-75)GAA>AAA p.E25K PRMT5_uc001whl.1_5'UTR|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tng.1_5'UTR|PRMT5_uc010tnh.1_Missense_Mutation_p.E25K|PRMT5_uc001whn.1_5'UTR NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 25 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TCAGCTATTTCGGGGACGCAA 0.682 NaN 0 0 0 0.007413 0 19 18 ACIN1 22985 broad.mit.edu 37 14 23533388 23533388 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:23533388C>G uc001wit.3 - 12 3023 c.2695G>C c.(2695-2697)GAG>CAG p.E899Q ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.E141Q|ACIN1_uc001wiq.3_Missense_Mutation_p.E141Q|ACIN1_uc001wir.3_Missense_Mutation_p.E172Q|ACIN1_uc001wis.3_Missense_Mutation_p.E580Q|ACIN1_uc010akg.2_Missense_Mutation_p.E886Q NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 899 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GTCTCATCCTCAGAGATGCGA 0.567 NaN 0 0 0 0.002222 0 44 64 NIN 51199 broad.mit.edu 37 14 51259486 51259486 + Nonsense_Mutation SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:51259486C>A uc001wym.2 - 5 570 c.379G>T c.(379-381)GAG>TAG p.E127* NIN_uc001wyi.2_Nonsense_Mutation_p.E127*|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Nonsense_Mutation_p.E127*|NIN_uc010tqp.1_Nonsense_Mutation_p.E133*|NIN_uc001wyo.2_Nonsense_Mutation_p.E127*|NIN_uc001wyp.1_Nonsense_Mutation_p.E89* NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 127 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TCCAGTGGCTCAATCACCGTC 0.547 NaN T PDGFRB MPD 1 0 4.62619e-21 0.004289 5.49749e-21 35 50 FLVCR2 55640 broad.mit.edu 37 14 76045321 76045321 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:76045321G>A uc001xrs.2 + 1 382 c.6G>A c.(4-6)GTG>GTA p.V2V NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 2 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) TGGCGATGGTGAATGAAGGTC 0.597 NaN OREG0022816 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001786 0 27 43 TDP1 55775 broad.mit.edu 37 14 90455360 90455360 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:90455360G>C uc001xxy.2 + 11 1542 c.1243G>C c.(1243-1245)GAG>CAG p.E415Q TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.E415Q|TDP1_uc010atn.2_Missense_Mutation_p.E415Q|TDP1_uc001xya.2_Missense_Mutation_p.E176Q|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.E415Q|TDP1_uc001xyd.1_Missense_Mutation_p.E30Q NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 415 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GTTATGTTCTGAGTTTAAAGA 0.493 NaN Repair_of_DNA-protein_crosslinks 0 0 0 0.002445 0 32 39 MOAP1 64112 broad.mit.edu 37 14 93650050 93650050 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr14:93650050C>T uc001ybj.2 - 3 908 c.538G>A c.(538-540)GAA>AAA p.E180K C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank NM_022151 NP_071434 Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 180 EEE->AAA: No effect on RASSF1-binding; interacts with BAX in the absence of RASSF1. activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity skin(2)|ovary(1) 3 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) cgtccaaattcttcttctcct 0 NaN 0 0 0 0.00361 0 49 47 OR4N4 283694 broad.mit.edu 37 15 22382961 22382961 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:22382961C>T uc001yuc.1 + 7 1470 c.489C>T c.(487-489)ATC>ATT p.I163I LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.I163I NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGGTCCTCATCCTCCGCTTGC 0.522 NaN 0 0 0 0.00361 0 55 235 ARHGAP11A 9824 broad.mit.edu 37 15 32928484 32928484 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:32928484G>A uc001zgy.1 + 12 2232 c.1510G>A c.(1510-1512)GAA>AAA p.E504K ARHGAP11A_uc010ubw.1_Missense_Mutation_p.E315K|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.E315K NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 504 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TAAGTCTGAGGAAACCTTACT 0.368 NaN 0 0 0 0.002096 0 30 26 CATSPER2 117155 broad.mit.edu 37 15 43939559 43939559 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:43939559C>T uc001zsh.2 - 3 467 c.252G>A c.(250-252)TTG>TTA p.L84L CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.L84L|CATSPER2_uc001zsj.2_Silent_p.L84L|CATSPER2_uc001zsk.2_Silent_p.L84L|CATSPER2_uc001zsl.1_RNA NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 84 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GAAGCCTGCTCAACAGCCTCT 0.498 NaN 0 0 0 0.00623 0 38 151 SPG11 80208 broad.mit.edu 37 15 44876629 44876629 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:44876629G>C uc001ztx.2 - 30 5280 c.5249C>G c.(5248-5250)TCC>TGC p.S1750C SPG11_uc010bdw.2_Missense_Mutation_p.S39C|SPG11_uc010ueh.1_Missense_Mutation_p.S1750C|SPG11_uc010uei.1_Missense_Mutation_p.S1750C|SPG11_uc001zty.1_Missense_Mutation_p.S479C NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1750 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGAGAAAAAGGAAGAAGCTGC 0.463 NaN 0 0 0 0.002445 0 34 38 TNFAIP8L3 388121 broad.mit.edu 37 15 51397222 51397222 + Missense_Mutation SNP A A G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:51397222A>G uc001zyy.2 - 1 252 c.152T>C c.(151-153)CTT>CCT p.L51P NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 51 0 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) TCCCCTCTGAAGATGAAAAGA 0.542 NaN 0 0 0 0.003954 0 14 110 TNFAIP8L3 388121 broad.mit.edu 37 15 51397239 51397240 + Missense_Mutation DNP GA GA AT TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:51397239_51397240GA>AT uc001zyy.2 - 1 234_235 c.134_135TC>AT c.(133-135)ATC>AAT p.I45N NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 45 0 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AAGATAAGGGGATGAGTCTTGT 0.535 NaN 0 0 0 0.004672 0 14 104 ADAM10 102 broad.mit.edu 37 15 58932978 58932978 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:58932978G>A uc002afd.1 - 8 1454 c.1010C>T c.(1009-1011)TCA>TTA p.S337L ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.S36L|ADAM10_uc002afe.1_RNA NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 337 Peptidase M12B.|Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) TAAACTACCTGAAGGTGCTCC 0.388 NaN 0 0 0 0.001855 0 12 16 FAM63B 54629 broad.mit.edu 37 15 59139599 59139599 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:59139599C>T uc002afj.2 + 7 1674 c.1472C>T c.(1471-1473)TCA>TTA p.S491L FAM63B_uc002afi.2_Missense_Mutation_p.S491L|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 491 central_nervous_system(1) 1 TTCTGTGACTCAGAATTTCAT 0.393 NaN 0 0 0 0.003271 0 37 30 HERC1 8925 broad.mit.edu 37 15 63986695 63986695 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:63986695G>A uc002amp.2 - 29 5444 c.5296C>T c.(5296-5298)CAA>TAA p.Q1766* NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1766 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TCTACTGGTTGATAATGAACA 0.423 NaN 0 0 0 0.002836 0 32 31 SCAPER 49855 broad.mit.edu 37 15 76763592 76763592 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr15:76763592C>G uc002bby.2 - 24 3098 c.3039G>C c.(3037-3039)AAG>AAC p.K1013N SCAPER_uc010bkr.2_Missense_Mutation_p.K321N|SCAPER_uc002bbx.2_Missense_Mutation_p.K767N|SCAPER_uc002bbz.1_Missense_Mutation_p.K884N NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 1012 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 AGAAGGTAATCTTGTTACTAA 0.378 NaN 0 0 0 0.007291 0 27 40 PKMYT1 9088 broad.mit.edu 37 16 3025757 3025757 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:3025757G>A uc002csn.2 - 4 878 c.435C>T c.(433-435)TTC>TTT p.F145F PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.F145F|PKMYT1_uc002cso.2_Silent_p.F76F|PKMYT1_uc002csp.2_Silent_p.F136F|PKMYT1_uc002csq.2_Silent_p.F136F|PKMYT1_uc010bsy.1_Silent_p.F136F NM_004203 NP_004194 Q99640 PMYT1_HUMAN protein kinase Myt1 isoform 1 145 Protein kinase. 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 TGGGGCCCCGGAATGGTGACA 0.677 NaN 0 0 0 0.002445 0 33 24 PKMYT1 9088 broad.mit.edu 37 16 3026840 3026840 + Missense_Mutation SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:3026840G>T uc002csn.2 - 3 646 c.203C>A c.(202-204)CCT>CAT p.P68H PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P68H|PKMYT1_uc002cso.2_Intron|PKMYT1_uc002csp.2_Missense_Mutation_p.P59H|PKMYT1_uc002csq.2_Missense_Mutation_p.P59H|PKMYT1_uc010bsy.1_Missense_Mutation_p.P59H NM_004203 NP_004194 Q99640 PMYT1_HUMAN protein kinase Myt1 isoform 1 68 Pro-rich. 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 GGTCCGAGGAGGGAAGAGGCG 0.692 NaN 1 0 0.000602214 0.000602 0.000693856 5 4 PKMYT1 9088 broad.mit.edu 37 16 3026845 3026845 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:3026845G>A uc002csn.2 - 3 641 c.198C>T c.(196-198)CTC>CTT p.L66L PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.L66L|PKMYT1_uc002cso.2_Intron|PKMYT1_uc002csp.2_Silent_p.L57L|PKMYT1_uc002csq.2_Silent_p.L57L|PKMYT1_uc010bsy.1_Silent_p.L57L NM_004203 NP_004194 Q99640 PMYT1_HUMAN protein kinase Myt1 isoform 1 66 Pro-rich. 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 GAGGAGGGAAGAGGCGGCTGA 0.687 NaN 0 0 0 0.000248 0 4 4 BFAR 51283 broad.mit.edu 37 16 14749055 14749055 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:14749055C>T uc002dco.2 + 5 1052 c.771C>T c.(769-771)CTC>CTT p.L257L BFAR_uc002dcp.2_Silent_p.L132L|BFAR_uc010uzh.1_Silent_p.L129L NM_016561 NP_057645 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 257 Lumenal (Potential). anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding ovary(1)|skin(1) 2 CCCAGAATCTCTGGGAATATA 0.328 NaN 0 0 0 0.002222 0 46 53 QPRT 23475 broad.mit.edu 37 16 29706228 29706228 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:29706228G>A uc002dto.2 + 2 335 c.257G>A c.(256-258)AGA>AAA p.R86K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_Intron NM_014298 NP_055113 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 86 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity 0 Niacin(DB00627) CCGGTGGCCAGAGTGGCCGAG 0.657 NaN 0 0 0 0.002222 0 40 37 CETP 1071 broad.mit.edu 37 16 57005235 57005235 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:57005235C>G uc002eki.2 + 7 657 c.600C>G c.(598-600)ATC>ATG p.I200M CETP_uc002ekj.2_Missense_Mutation_p.I200M NM_000078 NP_000069 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 200 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding central_nervous_system(1)|skin(1) 2 TGCCCCAGATCTGCAAAGAGA 0.577 NaN 0 0 0 0.00361 0 116 137 NLRC5 84166 broad.mit.edu 37 16 57092020 57092020 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:57092020C>G uc002ekk.1 + 28 4015 c.3790C>G c.(3790-3792)CTG>GTG p.L1264V NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.L1068V|NLRC5_uc002ekm.2_Missense_Mutation_p.L1038V|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.L179V|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.L151V NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1264 LRR 13. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CAGATGCCTTCTGGAATGTCT 0.572 NaN 0 0 0 0.000978 0 10 12 CMTM1 113540 broad.mit.edu 37 16 66603973 66603973 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:66603973G>A uc002epi.3 + 2 339 c.216G>A c.(214-216)CTG>CTA p.L72L CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_Intron|CMTM1_uc002epe.3_Intron|CMTM1_uc002epf.3_Intron|CMTM1_uc002epg.3_Intron|CMTM1_uc002eph.3_Silent_p.L72L|CMTM1_uc002epl.3_Intron|CMTM1_uc002epj.3_Intron|CMTM1_uc002epk.3_Intron|CMTM1_uc002epa.3_Intron|CMTM1_uc002epn.3_Silent_p.L189L|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Silent_p.L189L|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA NM_181269 NP_851786 Q8IZ96 CKLF1_HUMAN chemokine-like factor superfamily 1 isoform 1 72 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) ACCACTTGCTGACCTATTTAC 0.388 NaN 0 0 0 0.00361 0 76 101 MTSS1L 92154 broad.mit.edu 37 16 70713737 70713737 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:70713737C>G uc002ezj.2 - 5 594 c.334G>C c.(334-336)GAG>CAG p.E112Q MTSS1L_uc002ezk.1_Missense_Mutation_p.E32Q NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 112 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 TTCCAGTCCTCGATGCGCTCC 0.602 NaN 0 0 0 0.003163 0 14 10 ZFHX3 463 broad.mit.edu 37 16 72821414 72821414 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:72821414C>T uc002fck.2 - 10 11434 c.10761G>A c.(10759-10761)TCG>TCA p.S3587S uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Silent_p.S2673S NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3587 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CGGCAGACTGCGAGGTAGATG 0.617 NaN 0 0 0 0.00361 0 64 85 CHST6 4166 broad.mit.edu 37 16 75512780 75512780 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:75512780C>T uc002fef.2 - 3 1127 c.947G>A c.(946-948)CGC>CAC p.R316H CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R316H NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 316 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GAAGGCTTCGCGGCGCGCACC 0.627 NaN 0 0 0 0.005524 0 40 46 ZCCHC14 23174 broad.mit.edu 37 16 87446453 87446453 + Nonsense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:87446453G>C uc002fjz.1 - 12 1490 c.1463C>G c.(1462-1464)TCA>TGA p.S488* ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Nonsense_Mutation_p.S264* NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 488 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) GTGGTGGCCTGATGGATTGGA 0.612 NaN 0 0 0 0.001786 0 33 40 DPEP1 1800 broad.mit.edu 37 16 89703951 89703951 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:89703951C>T uc010cin.2 + 8 1047 c.844C>T c.(844-846)CAA>TAA p.Q282* DPEP1_uc002fnr.3_Nonsense_Mutation_p.Q282*|DPEP1_uc002fns.3_Nonsense_Mutation_p.Q282* NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 282 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CAACCTGTCCCAAGTGGCCGG 0.577 NaN 0 0 0 0.00361 0 77 65 SLC43A2 124935 broad.mit.edu 37 17 1478943 1478943 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:1478943G>C uc002fsv.2 - 14 1754 c.1665C>G c.(1663-1665)CTC>CTG p.L555L SLC43A2_uc002fsu.2_Silent_p.L559L NM_152346 NP_689559 Q8N370 LAT4_HUMAN solute carrier family 43, member 2 555 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TTTTGAGGAAGAGTTTGTCAT 0.617 NaN 0 0 0 0.003163 0 10 1 ITGAE 3682 broad.mit.edu 37 17 3649140 3649140 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:3649140C>G uc002fwo.3 - 18 2336 c.2237G>C c.(2236-2238)AGA>ACA p.R746T NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 746 Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CAGACAGCTTCTTACGTCTGA 0.587 NaN 0 0 0 0.00361 0 49 6 ANKFY1 51479 broad.mit.edu 37 17 4080443 4080443 + Nonsense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:4080443G>C uc002fxq.1 - 19 2791 c.2753C>G c.(2752-2754)TCA>TGA p.S918* ANKFY1_uc002fxn.2_Nonsense_Mutation_p.S960*|ANKFY1_uc002fxo.2_Nonsense_Mutation_p.S919*|ANKFY1_uc002fxp.2_Nonsense_Mutation_p.S917*|ANKFY1_uc010ckp.2_Nonsense_Mutation_p.S860* NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 918 ANK 17. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 AATAATTTCTGAGCCTGCTTG 0.448 NaN 0 0 0 0.00361 0 45 1 GPS2 2874 broad.mit.edu 37 17 7216947 7216947 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:7216947G>A uc002gfv.1 - 6 837 c.574C>T c.(574-576)CAG>TAG p.Q192* GPS2_uc002gfw.1_Nonsense_Mutation_p.Q154*|GPS2_uc002gfx.1_Nonsense_Mutation_p.Q192*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.Q192* NM_004489 NP_004480 Q13227 GPS2_HUMAN G protein pathway suppressor 2 192 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity ovary(2)|pancreas(1) 3 Prostate(122;0.157) GGTGGGGGCTGAGCAGTCCCA 0.577 NaN OREG0024133 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 64 5 ALOX12B 242 broad.mit.edu 37 17 7976526 7976526 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:7976526C>T uc002gjy.1 - 14 2127 c.1866G>A c.(1864-1866)GTG>GTA p.V622V NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 622 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 ACGTGGTCTTCACATCCGGCA 0.622 NaN Multiple Myeloma(8;0.094) 0 0 0 0.000248 0 4 119 DNAH9 1770 broad.mit.edu 37 17 11572854 11572854 + Silent SNP G G A rs36016893 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:11572854G>A uc002gne.2 + 17 3164 c.3096G>A c.(3094-3096)GGG>GGA p.G1032G DNAH9_uc010coo.2_Silent_p.G326G NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1032 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGCTGTACGGGCACATCCTCA 0.517 NaN 0 0 0 0.001168 0 4 91 CPD 1362 broad.mit.edu 37 17 28791803 28791803 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:28791803G>C uc002hfb.1 + 21 4129 c.4114G>C c.(4114-4116)GAG>CAG p.E1372Q CPD_uc010wbo.1_Missense_Mutation_p.E1125Q|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 1372 Cytoplasmic (Potential). proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 AGACACTGAAGAGGAAACATT 0.413 NaN 0 0 0 0.00361 0 57 75 ATP6V0A1 535 broad.mit.edu 37 17 40618453 40618453 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:40618453C>G uc002hzr.2 + 3 291 c.124C>G c.(124-126)CCA>GCA p.P42A ATP6V0A1_uc002hzq.2_Missense_Mutation_p.P42A|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.P42A|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.P42A|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.P42A|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.P42A NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 42 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TCAGTTAAATCCAGATGTGAA 0.318 NaN 0 0 0 0.005443 0 26 24 TLK2 11011 broad.mit.edu 37 17 60598163 60598163 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:60598163G>C uc010ddp.2 + 3 379 c.111G>C c.(109-111)CAG>CAC p.Q37H TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Missense_Mutation_p.Q37H|TLK2_uc002jaa.3_Missense_Mutation_p.Q37H|TLK2_uc010wpd.1_Missense_Mutation_p.Q37H NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 37 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 CTTCCAACCAGAGCTTGTGCA 0.343 NaN 0 0 0 0.00361 0 47 110 CSH1 1442 broad.mit.edu 37 17 61972839 61972839 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:61972839C>T uc002jcs.1 - 4 566 c.450G>A c.(448-450)CTG>CTA p.L150L CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_Silent_p.L111L|CSH1_uc002jcq.1_Silent_p.L111L|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Silent_p.L116L|CSH1_uc002jcu.1_Silent_p.L150L|CSH1_uc002jcv.1_Intron|CSH1_uc002jcw.2_Silent_p.L150L|CSH1_uc002jcy.2_3'UTR NM_001317 NP_001308 P01243 CSH_HUMAN chorionic somatomammotropin hormone 1 isoform 1 150 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding skin(1) 1 TCACCCCCATCAGCGTTTGGA 0.562 NaN Russell-Silver_syndrome 0 0 0 0.00361 0 45 91 HELZ 9931 broad.mit.edu 37 17 65175038 65175038 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:65175038G>A uc010wqk.1 - 13 1354 c.1167C>T c.(1165-1167)CTC>CTT p.L389L HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.L389L NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TCAGGTATTCGAGATCTAAAT 0.259 NaN 0 0 0 0.004289 0 37 62 TRIM65 201292 broad.mit.edu 37 17 73892977 73892977 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr17:73892977G>A uc002jpx.2 - 1 78 c.42C>T c.(40-42)ATC>ATT p.I14I NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 14 RING-type. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCCCAGGCAGATGGCGCAGG 0.726 NaN 0 0 0 0.001168 0 5 8 MIB1 57534 broad.mit.edu 37 18 19345737 19345737 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr18:19345737C>T uc002ktq.2 + 2 234 c.234C>T c.(232-234)ATC>ATT p.I78I MIB1_uc002ktp.2_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 78 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) TAATAGGCATCAAGCATGATG 0.363 NaN 0 0 0 0.001786 0 29 38 MIB1 57534 broad.mit.edu 37 18 19345741 19345741 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr18:19345741C>G uc002ktq.2 + 2 238 c.238C>G c.(238-240)CAT>GAT p.H80D MIB1_uc002ktp.2_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 80 ZZ-type. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) AGGCATCAAGCATGATGGAAC 0.363 NaN 0 0 0 0.003271 0 32 39 IMPACT 55364 broad.mit.edu 37 18 22025392 22025392 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr18:22025392G>C uc002kvh.3 + 8 742 c.630G>C c.(628-630)AAG>AAC p.K210N IMPACT_uc002kvg.3_Missense_Mutation_p.K192N NM_018439 NP_060909 Q9P2X3 IMPCT_HUMAN Impact homolog 210 0 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) ATGAGAATAAGAAAATAGCTA 0.308 NaN 0 0 0 0.002836 0 30 47 BSG 682 broad.mit.edu 37 19 580761 580761 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:580761G>C uc002loz.2 + 5 869 c.771G>C c.(769-771)AAG>AAC p.K257N BSG_uc002loy.2_Missense_Mutation_p.K77N|BSG_uc002lpa.2_Missense_Mutation_p.K141N|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Missense_Mutation_p.K141N|BSG_uc002lpc.2_Missense_Mutation_p.K304N|BSG_uc002lpd.2_5'Flank NM_001728 NP_001719 P35613 BASI_HUMAN basigin isoform 1 precursor 257 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGTACAAGATCACTGACT 0.612 NaN 0 0 0 0.007413 0 19 38 MUC16 94025 broad.mit.edu 37 19 9089752 9089752 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:9089752G>A uc002mkp.2 - 1 2267 c.2063C>T c.(2062-2064)TCA>TTA p.S688L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 688 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCTGAAAGCTGAGGACTGTAG 0.507 NaN 0 0 0 0.00361 0 58 50 KRI1 65095 broad.mit.edu 37 19 10668240 10668240 + Silent SNP G G A rs144674130 by1000genomes TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:10668240G>A uc002moy.1 - 16 1632 c.1623C>T c.(1621-1623)CTC>CTT p.L541L KRI1_uc002mow.1_Silent_p.L160L|KRI1_uc002mox.1_Silent_p.L537L NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 541 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCTCAGTGCTGAGGCCAAAGT 0.602 NaN 0 0 0 0.002299 0 23 25 KRI1 65095 broad.mit.edu 37 19 10668297 10668297 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:10668297G>A uc002moy.1 - 16 1575 c.1566C>T c.(1564-1566)ATC>ATT p.I522I KRI1_uc002mow.1_Silent_p.I141I|KRI1_uc002mox.1_Silent_p.I518I NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 522 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GCAGGTCGTCGATGATGTCCT 0.617 NaN 0 0 0 0.001786 0 27 46 SPC24 147841 broad.mit.edu 37 19 11258787 11258787 + Silent SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:11258787G>T uc002mql.2 - 3 344 c.312C>A c.(310-312)CTC>CTA p.L104L NM_182513 NP_872319 Q8NBT2 SPC24_HUMAN spindle pole body component 24 homolog 104 Potential.|Interaction with the N-terminus of SPBC25. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding 0 GCTCTCTGGTGAGCTGAGTAG 0.607 NaN 1 0 2.0095e-06 0.001984 2.3254e-06 7 18 ZNF799 90576 broad.mit.edu 37 19 12491855 12491855 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:12491855G>C uc002mts.3 - 4 687 c.221C>G c.(220-222)TCT>TGT p.S74C Q96GE5 ZN799_HUMAN Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. 180 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 GTTTCCCAAAGAATTGAAGGA 0.403 NaN 0 0 0 0.00278 0 23 40 ZNF791 163049 broad.mit.edu 37 19 12739532 12739532 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:12739532C>T uc002mua.2 + 4 1351 c.1189C>T c.(1189-1191)CTA>TTA p.L397L ZNF791_uc010xml.1_Silent_p.L365L|ZNF791_uc010dyu.1_Silent_p.L288L|ZNF791_uc010xmm.1_Silent_p.L288L NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 397 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CAATTATCCTCTAGATTTGAA 0.363 NaN 0 0 0 0.00361 0 48 64 RAD23A 5886 broad.mit.edu 37 19 13059906 13059906 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:13059906G>A uc002mvw.1 + 6 721 c.612G>A c.(610-612)GGG>GGA p.G204G RAD23A_uc002mvx.1_Silent_p.G204G|RAD23A_uc002mvz.1_Silent_p.G204G|RAD23A_uc002mwa.1_Silent_p.G204G|RAD23A_uc002mvy.1_Silent_p.G39G|RAD23A_uc010xmw.1_Silent_p.G39G NM_005053 NP_005044 P54725 RD23A_HUMAN UV excision repair protein RAD23 homolog A 204 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1) 1 GAATTCCTGGGAGCCCCGAGC 0.637 NaN NER 0 0 0 0.001984 0 7 8 ZNF93 81931 broad.mit.edu 37 19 20044762 20044762 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:20044762G>C uc002non.2 + 4 1109 c.998G>C c.(997-999)AGA>ACA p.R333T NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 333 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 ACACATAAGAGAATTCATACT 0.378 NaN 0 0 0 0.001786 0 31 10 ZNF30 90075 broad.mit.edu 37 19 35434903 35434903 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:35434903G>C uc010edp.1 + 5 1411 c.1033G>C c.(1033-1035)GAA>CAA p.E345Q ZNF30_uc002nxf.2_Missense_Mutation_p.E264Q|ZNF30_uc010edq.1_Missense_Mutation_p.E346Q|ZNF30_uc010edr.1_Missense_Mutation_p.E346Q NM_194325 NP_919306 P17039 ZNF30_HUMAN zinc finger protein 30 isoform b 345 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) GAAACCTTTTGAATGTAAGGA 0.448 NaN 0 0 0 0.00361 0 54 66 ZNF461 92283 broad.mit.edu 37 19 37129762 37129762 + Silent SNP T T C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:37129762T>C uc002oem.2 - 6 1713 c.1485A>G c.(1483-1485)AAA>AAG p.K495K ZNF461_uc002oen.2_Silent_p.K464K|ZNF461_uc010xtj.1_Silent_p.K472K NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATTCATAGGGTTTCTCACCAG 0.393 NaN 0 0 0 0.00245 0 15 68 CATSPERG 57828 broad.mit.edu 37 19 38853103 38853103 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:38853103G>C uc002oih.3 + 19 2332 c.2245G>C c.(2245-2247)GAG>CAG p.E749Q CATSPERG_uc002oig.3_Missense_Mutation_p.E709Q|CATSPERG_uc002oif.3_Missense_Mutation_p.E389Q|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 749 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 CTACAACCTCGAGTCCGCGTA 0.582 NaN 0 0 0 0.003271 0 36 54 GRLF1 2909 broad.mit.edu 37 19 47423517 47423517 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:47423517C>T uc010ekv.2 + 1 1585 c.1585C>T c.(1585-1587)CGA>TGA p.R529* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 529 FF 4. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) AGAGGAACAGCGATTTAAAGC 0.443 NaN 0 0 0 0.00361 0 74 102 SULT2B1 6820 broad.mit.edu 37 19 49090664 49090664 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:49090664C>T uc002pjl.2 + 3 474 c.393C>T c.(391-393)TTC>TTT p.F131F SULT2B1_uc002pjm.2_Silent_p.F116F NM_177973 NP_814444 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 131 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) TCCAGATCTTCACCAAGGCCT 0.622 NaN 0 0 0 0.00361 0 47 66 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A A G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:50370414A>G uc002pqh.2 - 1 100 c.48T>C c.(46-48)CCT>CCC p.P16P PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721 NaN Other_BER_factors 0 0 0 0.001368 0 7 23 MBOAT7 79143 broad.mit.edu 37 19 54678031 54678031 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:54678031C>T uc002qdq.2 - 9 1392 c.1126G>A c.(1126-1128)GAG>AAG p.E376K TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.E60K|MBOAT7_uc010yem.1_Missense_Mutation_p.E358K|MBOAT7_uc002qdr.2_Missense_Mutation_p.E376K|MBOAT7_uc002qds.2_Missense_Mutation_p.E303K|MBOAT7_uc010yen.1_Missense_Mutation_p.E303K NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 376 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) AGCCGGCCCTCGGCAGCCAGG 0.687 NaN 0 0 0 0.00361 0 62 50 RNF103 7844 broad.mit.edu 37 2 86832395 86832395 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:86832395G>A uc002srn.2 - 4 1598 c.629C>T c.(628-630)GCA>GTA p.A210V VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.A71V|uc002sro.2_Intron NM_005667 NP_005658 O00237 RN103_HUMAN ring finger protein 103 210 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1) 1 CCGAGAAGCTGCATGAGCAGT 0.343 NaN 0 0 0 0.00361 0 82 75 RMND5A 64795 broad.mit.edu 37 2 86992169 86992169 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:86992169G>A uc010ytm.1 + 5 918 c.541G>A c.(541-543)GAA>AAA p.E181K RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.E181K NM_022780 NP_073617 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog 181 CTLH. E -> G (in Ref. 1; BAB14257). ovary(1)|skin(1) 2 GTCAAACCGGGAAATGCTTAT 0.373 NaN 0 0 0 0.007835 0 34 40 RMND5A 64795 broad.mit.edu 37 2 86992260 86992260 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:86992260G>A uc010ytm.1 + 5 1009 c.632G>A c.(631-633)CGA>CAA p.R211Q RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.R211Q NM_022780 NP_073617 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog 211 ovary(1)|skin(1) 2 ACAAATCAGCGAGAGGCATTA 0.368 NaN 0 0 0 0.005524 0 38 39 ANKRD39 51239 broad.mit.edu 37 2 97514175 97514175 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:97514175C>T uc002sxd.3 - 4 447 c.415G>A c.(415-417)GAG>AAG p.E139K NM_016466 NP_057550 Q53RE8 ANR39_HUMAN ankyrin repeat domain 39 139 ANK 4. 0 TGACCCCTCTCAGCAGCCTGT 0.582 NaN 0 0 0 0.00361 0 45 39 AFF3 3899 broad.mit.edu 37 2 100199373 100199373 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:100199373C>T uc002tag.2 - 16 2916 c.2680G>A c.(2680-2682)GAG>AAG p.E894K AFF3_uc002taf.2_Missense_Mutation_p.E919K|AFF3_uc010fiq.1_Missense_Mutation_p.E894K|AFF3_uc010yvr.1_Missense_Mutation_p.E1047K|AFF3_uc002tah.1_Missense_Mutation_p.E919K NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 894 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 GTTAAGTCCTCGCTGGTGTAT 0.463 NaN 0 0 0 0.003214 0 47 44 TTN 7273 broad.mit.edu 37 2 179612753 179612753 + Missense_Mutation SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:179612753C>A uc002unb.2 - 46 14598 c.14374G>T c.(14374-14376)GCA>TCA p.A4792S TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) GGAAATGCTGCCAACTCTGGT 0.458 NaN 1 0 3.73988e-18 0.00632 4.42442e-18 30 29 CERKL 375298 broad.mit.edu 37 2 182413568 182413568 + Silent SNP G G A rs139270710 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:182413568G>A uc002unx.2 - 8 1091 c.990C>T c.(988-990)GTC>GTT p.V330V CERKL_uc002uny.2_Silent_p.V304V|CERKL_uc010zfm.1_Silent_p.V286V|CERKL_uc002unz.2_Silent_p.V52V|CERKL_uc002uoa.2_Silent_p.V235V|CERKL_uc002uob.2_Silent_p.V52V|CERKL_uc002uoc.2_Silent_p.V191V|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.V99V|CERKL_uc002uoe.2_Silent_p.V304V|CERKL_uc002unw.2_5'Flank NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 330 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGCAGACGTCGACCAGCTGTA 0.428 NaN 0 0 0 0.003954 0 22 34 KIF1A 547 broad.mit.edu 37 2 241726723 241726723 + Missense_Mutation SNP T T C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr2:241726723T>C uc002vzy.2 - 5 520 c.374A>G c.(373-375)GAC>GGC p.D125G KIF1A_uc010fzk.2_Missense_Mutation_p.D125G|KIF1A_uc002vzz.1_Missense_Mutation_p.D125G NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 125 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AGAGAAGAGGTCCTCGCAGAG 0.657 NaN 0 0 0 0.002445 0 31 43 SLC24A3 57419 broad.mit.edu 37 20 19701741 19701741 + Missense_Mutation SNP A A C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:19701741A>C uc002wrl.2 + 17 2089 c.1892A>C c.(1891-1893)AAC>ACC p.N631T NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 631 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 ACTGAGTTCAACGTGTTCACC 0.582 NaN 0 0 0 0.00361 0 67 72 ASXL1 171023 broad.mit.edu 37 20 31017811 31017811 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:31017811C>T uc002wxs.2 + 7 1099 c.673C>T c.(673-675)CAG>TAG p.Q225* ASXL1_uc010geb.2_Intron NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 225 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 CGAGGTCACCCAGGACCCTGC 0.687 NaN F|N|Mis MDS|CMML 0 0 0 0.00333 0 22 17 RBPJL 11317 broad.mit.edu 37 20 43940948 43940948 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:43940948G>A uc002xns.2 + 6 604 c.532G>A c.(532-534)GGC>AGC p.G178S RBPJL_uc002xnt.2_Missense_Mutation_p.G178S NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L 178 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) gctgcgCGGGGGCCGGGAGCT 0.512 NaN 0 0 0 0.004007 0 16 24 CSE1L 1434 broad.mit.edu 37 20 47707519 47707519 + Missense_Mutation SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:47707519C>A uc002xty.2 + 21 2459 c.2325C>A c.(2323-2325)TTC>TTA p.F775L CSE1L_uc010zyg.1_Missense_Mutation_p.F558L|CSE1L_uc010ghx.2_Missense_Mutation_p.F719L|CSE1L_uc010ghy.2_Missense_Mutation_p.F396L|CSE1L_uc010zyh.1_Missense_Mutation_p.F424L NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 775 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TTCTGCTATTCCAGAGACTTC 0.308 NaN 1 0 1.61788e-16 0.002445 1.9055e-16 16 62 CSE1L 1434 broad.mit.edu 37 20 47707529 47707529 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:47707529C>T uc002xty.2 + 21 2469 c.2335C>T c.(2335-2337)CAG>TAG p.Q779* CSE1L_uc010zyg.1_Nonsense_Mutation_p.Q562*|CSE1L_uc010ghx.2_Nonsense_Mutation_p.Q723*|CSE1L_uc010ghy.2_Nonsense_Mutation_p.Q400*|CSE1L_uc010zyh.1_Nonsense_Mutation_p.Q428* NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 779 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) CCAGAGACTTCAGAATTCCAA 0.303 NaN 0 0 0 0.001786 0 20 56 CSE1L 1434 broad.mit.edu 37 20 47707558 47707558 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr20:47707558G>A uc002xty.2 + 21 2498 c.2364G>A c.(2362-2364)AAG>AAA p.K788K CSE1L_uc010zyg.1_Silent_p.K571K|CSE1L_uc010ghx.2_Silent_p.K732K|CSE1L_uc010ghy.2_Silent_p.K409K|CSE1L_uc010zyh.1_Silent_p.K437K NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 788 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AGTTTATCAAGAGTAAGTAAA 0.308 NaN 0 0 0 0.003954 0 12 45 DSCR3 10311 broad.mit.edu 37 21 38600636 38600636 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr21:38600636G>A uc002ywf.1 - 7 785 c.546C>T c.(544-546)CTC>CTT p.L182L DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Silent_p.L140L|DSCR3_uc010gnl.2_Silent_p.L155L|DSCR3_uc011aeg.1_Silent_p.L105L|DSCR3_uc011aeh.1_Silent_p.L57L NM_006052 NP_006043 O14972 DSCR3_HUMAN Down syndrome critical region protein 3 182 vacuolar transport nucleus|retromer complex 0 TTGTTGAGTTGAGATGTCCTC 0.507 NaN 0 0 0 0.001786 0 28 39 CECR2 27443 broad.mit.edu 37 22 18031822 18031822 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:18031822G>C uc010gqw.1 + 17 4444 c.4318G>C c.(4318-4320)GAT>CAT p.D1440H CECR2_uc010gqv.1_Missense_Mutation_p.D1298H|CECR2_uc002zml.2_Missense_Mutation_p.D1299H|CECR2_uc002zmo.2_RNA NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1482 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) ACTTCCCCTGGATCAGGTAAG 0.498 NaN 0 0 0 0.003954 0 24 29 DGCR8 54487 broad.mit.edu 37 22 20073687 20073687 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:20073687C>T uc002zri.2 + 2 551 c.201C>T c.(199-201)TTC>TTT p.F67F DGCR8_uc010grz.2_Silent_p.F67F|DGCR8_uc002zrj.2_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 67 Necessary for nuclear localization and retention.|Necessary for interaction with NCL. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) AGGACCCCTTCAACTTCTACG 0.597 NaN 0 0 0 0.00361 0 50 56 CYTSA 23384 broad.mit.edu 37 22 24717883 24717883 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:24717883C>T uc002zzw.2 + 5 1242 c.935C>T c.(934-936)TCT>TTT p.S312F CYTSA_uc002zzv.3_Missense_Mutation_p.S312F|CYTSA_uc011ajq.1_Missense_Mutation_p.S312F NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 312 cell cycle|cell division 0 ACTCTGACTTCTTCAGTGGAA 0.478 NaN 0 0 0 0.00361 0 45 56 CYTSA 23384 broad.mit.edu 37 22 24718351 24718351 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:24718351C>T uc002zzw.2 + 5 1710 c.1403C>T c.(1402-1404)TCT>TTT p.S468F CYTSA_uc002zzv.3_Missense_Mutation_p.S468F|CYTSA_uc011ajq.1_Missense_Mutation_p.S468F NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 468 cell cycle|cell division 0 TACTTCCGCTCTCTTCTAGAT 0.408 NaN 0 0 0 0.00361 0 65 70 DEPDC5 9681 broad.mit.edu 37 22 32160960 32160960 + Splice_Site SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr22:32160960G>A uc003als.2 + 5 336 c.194_splice c.e5-1 p.E65_splice DEPDC5_uc011als.1_Splice_Site_p.E65_splice|DEPDC5_uc011alu.1_Splice_Site_p.E65_splice|DEPDC5_uc011alv.1_Splice_Site|DEPDC5_uc003alt.2_Splice_Site_p.E65_splice|DEPDC5_uc003alr.1_Splice_Site_p.E65_splice|DEPDC5_uc011alt.1_Splice_Site_p.E65_splice NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TTCTGTTTTAGAAACTATCAG 0.363 NaN 0 0 0 0.001984 0 6 88 CNTN6 27255 broad.mit.edu 37 3 1424976 1424976 + Splice_Site SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:1424976G>C uc003boz.2 + 19 2669 c.2402_splice c.e19-1 p.E801_splice CNTN6_uc011asj.1_Splice_Site_p.E729_splice|CNTN6_uc003bpa.2_Splice_Site_p.E801_splice NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CTGGATGGTAGAACCTCAACT 0.428 NaN 0 0 0 0.00361 0 91 135 ROBO2 6092 broad.mit.edu 37 3 77614213 77614213 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:77614213G>A uc003dpy.3 + 12 2434 c.1791G>A c.(1789-1791)GCG>GCA p.A597A ROBO2_uc003dpz.2_Silent_p.A601A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.A601A NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 597 Extracellular (Potential).|Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGGTCAGAGCGATCAACCCCC 0.498 NaN 0 0 0 0.00361 0 57 70 RAB7A 7879 broad.mit.edu 37 3 128525358 128525358 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:128525358C>T uc003eks.1 + 4 556 c.324C>T c.(322-324)ATC>ATT p.I108I RAB7A_uc010hsv.1_Intron|RAB7A_uc003ekt.2_Silent_p.I84I NM_004637 NP_004628 P51149 RAB7A_HUMAN RAB7, member RAS oncogene family 108 I -> V (in Ref. 2; AAA86640). endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding 0 GBM - Glioblastoma multiforme(114;0.231) AGTTTCTCATCCAGGCCAGTC 0.458 NaN 0 0 0 0.005524 0 37 42 IGSF10 285313 broad.mit.edu 37 3 151166216 151166216 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:151166216C>G uc011bod.1 - 4 1553 c.1553G>C c.(1552-1554)AGA>ACA p.R518T NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 518 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATAAGGGGCTCTCACTTTACT 0.498 NaN 0 0 0 0.00361 0 103 108 IGSF10 285313 broad.mit.edu 37 3 151166508 151166508 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr3:151166508C>G uc011bod.1 - 4 1261 c.1261G>C c.(1261-1263)GAT>CAT p.D421H NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 421 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCTCTGAGATCTGCCTCTATG 0.438 NaN 0 0 0 0.004289 0 37 35 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 C G C C Valid Somatic Phase_I WXS WGS Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.001523 0 16 19 RGS12 6002 broad.mit.edu 37 4 3416499 3416499 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:3416499C>T uc003ggw.2 + 6 3115 c.2211C>T c.(2209-2211)TTC>TTT p.F737F RGS12_uc003ggu.2_Silent_p.F737F|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.F737F|RGS12_uc003ggy.1_Silent_p.F135F|RGS12_uc010ict.1_Silent_p.F89F|RGS12_uc003ggz.2_Silent_p.F89F|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.1_Silent_p.F79F|RGS12_uc003gha.2_Silent_p.F79F|RGS12_uc010icv.2_5'UTR|RGS12_uc003ghb.2_5'UTR NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 737 RGS. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGAAAGAATTCAGTGAAGAAA 0.413 NaN 0 0 0 0.00361 0 48 169 WDR1 9948 broad.mit.edu 37 4 10100690 10100690 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:10100690G>A uc003gmf.2 - 4 586 c.303C>T c.(301-303)TTC>TTT p.F101F WDR1_uc003gmg.2_Intron NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 101 WD 2. platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) TCTTCCCAGCGAAAGGCTGGT 0.577 NaN 0 0 0 0.00361 0 74 75 HS3ST1 9957 broad.mit.edu 37 4 11401132 11401132 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:11401132C>T uc003gmq.2 - 2 821 c.498G>A c.(496-498)CAG>CAA p.Q166Q NM_005114 NP_005105 O14792 HS3S1_HUMAN heparan sulfate D-glucosaminyl 166 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity skin(1) 1 GCTTGTGCTTCTGCATGTGGT 0.587 NaN 0 0 0 0.00361 0 43 53 SHROOM3 57619 broad.mit.edu 37 4 77675497 77675497 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:77675497G>C uc011cbx.1 + 7 4814 c.3861G>C c.(3859-3861)GAG>GAC p.E1287D SHROOM3_uc003hkg.2_Missense_Mutation_p.E1065D NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1287 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GCCAAGAAGAGATGCTGCCGC 0.547 NaN 0 0 0 0.00361 0 81 113 TIGD2 166815 broad.mit.edu 37 4 90034853 90034853 + Nonsense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:90034853C>G uc003hsk.2 + 1 886 c.728C>G c.(727-729)TCA>TGA p.S243* FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 243 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) ACTGACCTTTCAAACCTTCCT 0.423 NaN 0 0 0 0.008361 0 30 32 MTTP 4547 broad.mit.edu 37 4 100510816 100510816 + Nonsense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:100510816C>G uc003hvc.3 + 5 666 c.410C>G c.(409-411)TCA>TGA p.S137* MTTP_uc011cej.1_Nonsense_Mutation_p.S164* NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 137 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GAGTTCTACTCATATCAAAAT 0.418 NaN 0 0 0 0.007413 0 16 18 TRPC3 7222 broad.mit.edu 37 4 122831316 122831316 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:122831316G>A uc003ieg.2 - 6 1859 c.1785C>T c.(1783-1785)TTC>TTT p.F595F TRPC3_uc010inr.2_Silent_p.F467F|TRPC3_uc003ief.2_Silent_p.F522F|TRPC3_uc011cgl.1_Silent_p.F259F NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 510 Cytoplasmic (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 TACCATAAGTGAAATACTGTA 0.438 NaN 0 0 0 0.002096 0 31 56 BBS12 166379 broad.mit.edu 37 4 123664339 123664339 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:123664339G>A uc003ieu.2 + 2 1485 c.1292G>A c.(1291-1293)CGG>CAG p.R431Q NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 431 cellular protein metabolic process cilium ATP binding ovary(2) 2 AACAGTAAGCGGTTGGTAATC 0.443 NaN Bardet-Biedl_syndrome 0 0 0 0.00361 0 50 44 GAB1 2549 broad.mit.edu 37 4 144361407 144361407 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:144361407G>A uc003ije.2 + 6 1816 c.1457G>A c.(1456-1458)GGA>GAA p.G486E GAB1_uc003ijd.2_Missense_Mutation_p.G486E|GAB1_uc011chq.1_Missense_Mutation_p.G383E NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 486 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) TCCTCATTTGGAATGCAAGTT 0.483 NaN 0 0 0 0.003214 0 47 35 ZNF827 152485 broad.mit.edu 37 4 146686180 146686180 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:146686180C>G uc003ikn.2 - 13 3238 c.3190G>C c.(3190-3192)GAG>CAG p.E1064Q ZNF827_uc003ikm.2_Missense_Mutation_p.E1064Q|ZNF827_uc010iox.2_Missense_Mutation_p.E714Q|ZNF827_uc003ikl.2_Missense_Mutation_p.E149Q NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 1064 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TTCTTATGCTCCAGCAGCTGT 0.483 NaN 0 0 0 0.004672 0 3 162 DDX60 55601 broad.mit.edu 37 4 169196559 169196559 + Silent SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:169196559C>T uc003irp.2 - 16 2533 c.2241G>A c.(2239-2241)TTG>TTA p.L747L NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 747 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CATCTCGTATCAAATAATGGC 0.403 NaN 0 0 0 0.002096 0 30 26 GALNT7 51809 broad.mit.edu 37 4 174169341 174169341 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:174169341C>G uc003isz.3 + 2 420 c.337C>G c.(337-339)CTC>GTC p.L113V NM_017423 NP_059119 Q86SF2 GALT7_HUMAN polypeptide N-acetylgalactosaminyltransferase 7 113 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1) 1 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) GAGGCAGTATCTCACATTTAA 0.463 NaN 0 0 0 0.001786 0 32 40 ASB5 140458 broad.mit.edu 37 4 177143510 177143510 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:177143510C>G uc003iuq.1 - 3 354 c.338G>C c.(337-339)GGA>GCA p.G113A ASB5_uc003iup.1_Missense_Mutation_p.G60A NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 113 ANK 2. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) CACGTGATCTCCAAGGCAGGC 0.423 NaN 0 0 0 0.001786 0 30 31 FAT1 2195 broad.mit.edu 37 4 187518864 187518864 + Nonsense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr4:187518864G>A uc003izf.2 - 24 12528 c.12340C>T c.(12340-12342)CAG>TAG p.Q4114* FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4114 Extracellular (Potential).|EGF-like 4. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GAATCACACTGACAAACGGCG 0.428 NaN HNSCC(5;0.00058) 0 0 0 0.003954 0 23 29 RASGRF2 5924 broad.mit.edu 37 5 80422929 80422929 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:80422929C>T uc003kha.1 + 17 2633 c.2633C>T c.(2632-2634)CCG>CTG p.P878L RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 878 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCTGTTTCACCGGCTTCTGCT 0.448 NaN 0 0 0 0.003954 0 25 41 GDF9 2661 broad.mit.edu 37 5 132200111 132200111 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:132200111C>T uc003kxz.1 - 1 367 c.115G>A c.(115-117)GAG>AAG p.E39K GDF9_uc011cxj.1_Intron|UQCRQ_uc003kya.1_5'Flank NM_005260 NP_005251 O60383 GDF9_HUMAN growth differentiation factor 9 precursor 39 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity skin(1) 1 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GATTCCAACTCAGCACTAGCA 0.502 NaN 0 0 0 0.00361 0 56 61 PCDHB14 56122 broad.mit.edu 37 5 140604577 140604577 + Silent SNP C C A rs142260227 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:140604577C>A uc003ljb.2 + 1 1500 c.1500C>A c.(1498-1500)CTC>CTA p.L500L PCDHB14_uc011dal.1_Silent_p.L347L NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 500 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTGCCCCTCGCCTCCTTGG 0.652 NaN 1 0 3.06722e-38 0.00361 3.7285e-38 93 91 PCDHGA4 56111 broad.mit.edu 37 5 140734986 140734986 + Missense_Mutation SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:140734986G>T uc003ljq.1 + 1 219 c.219G>T c.(217-219)CAG>CAT p.Q73H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q73H NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 73 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAGGACGCAGCTTTTCGCCC 0.637 NaN 1 0 0.00198382 0.001984 0.00227581 7 115 PCDHGB3 56102 broad.mit.edu 37 5 140750327 140750327 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:140750327G>A uc003ljw.1 + 1 366 c.366G>A c.(364-366)CTG>CTA p.L122L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Silent_p.L122L NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 122 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACTGTGCTGATCCAGGATA 0.443 NaN 0 0 0 0.00361 0 127 107 PCDHGB7 56099 broad.mit.edu 37 5 140798486 140798486 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:140798486G>C uc003lkn.1 + 1 1205 c.1060G>C c.(1060-1062)GAT>CAT p.D354H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.D354H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 354 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCACTCTCTGATCAGATTAT 0.463 NaN 0 0 0 0.008361 0 26 26 ODZ2 57451 broad.mit.edu 37 5 167553852 167553852 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:167553852G>A uc010jjd.2 + 12 2303 c.2303G>A c.(2302-2304)CGC>CAC p.R768H ODZ2_uc003lzr.3_Missense_Mutation_p.R536H|ODZ2_uc003lzt.3_Missense_Mutation_p.R132H|ODZ2_uc010jje.2_Missense_Mutation_p.R39H|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGTGACCAGCGCGTGTGCCAC 0.602 NaN 0 0 0 0.003163 0 14 7 STK10 6793 broad.mit.edu 37 5 171471888 171471888 + Nonstop_Mutation SNP A A C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:171471888A>C uc003mbo.1 - 19 3205 c.2905T>G c.(2905-2907)TAA>GAA p.*969E NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 969 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGCGGTTGTTAAGAAGCATCC 0.592 NaN 0 0 0 0.00361 0 47 52 OR2V2 285659 broad.mit.edu 37 5 180582343 180582343 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:180582343C>T uc011dhj.1 + 1 401 c.401C>T c.(400-402)CCC>CTC p.P134L NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P134T(1) ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTCACTATCCCATCCTCATG 0.502 NaN 0 0 0 0.00361 0 56 72 TRIM7 81786 broad.mit.edu 37 5 180625764 180625764 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr5:180625764G>C uc003mmz.1 - 5 981 c.914C>G c.(913-915)TCT>TGT p.S305C TRIM7_uc003mmv.1_Missense_Mutation_p.S123C|TRIM7_uc003mmw.1_Missense_Mutation_p.S97C|TRIM7_uc003mmx.1_Missense_Mutation_p.S97C|TRIM7_uc003mmy.1_Missense_Mutation_p.S97C NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 305 cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CTTCATCTCAGAAGAGACTGT 0.527 NaN 0 0 0 0.004007 0 15 22 KIF13A 63971 broad.mit.edu 37 6 17777582 17777582 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:17777582C>T uc003ncg.3 - 34 4201 c.4096G>A c.(4096-4098)GTC>ATC p.V1366I KIF13A_uc003ncf.2_Missense_Mutation_p.V1353I|KIF13A_uc003nch.3_Missense_Mutation_p.V1366I|KIF13A_uc003nci.3_Missense_Mutation_p.V1353I|KIF13A_uc003nce.1_5'UTR NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1366 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTGACTGTGACGGCCTGTAAA 0.294 NaN 0 0 0 0.000248 0 4 28 RPS18 6222 broad.mit.edu 37 6 33243640 33243640 + Missense_Mutation SNP G G A rs3208874 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:33243640G>A uc003odp.1 + 3 214 c.169G>A c.(169-171)GGA>AGA p.G57R RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank NM_022551 NP_072045 P62269 RS18_HUMAN ribosomal protein S18 57 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome 0 CAAGAGGGCGGGAGAACTCAC 0.552 NaN 0 0 0 0.000248 0 4 152 RPL7L1 285855 broad.mit.edu 37 6 42848633 42848633 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:42848633C>G uc003osq.1 + 2 54 c.49C>G c.(49-51)CTG>GTG p.L17V RPL7L1_uc011dux.1_Missense_Mutation_p.L17V|RPL7L1_uc010jxw.1_Intron|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Missense_Mutation_p.L17V|RPL7L1_uc003oss.1_Intron|RPL7L1_uc003ost.2_Missense_Mutation_p.L17V|RPL7L1_uc003osu.2_RNA NM_198486 NP_940888 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 17 translation large ribosomal subunit protein binding|structural constituent of ribosome 0 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) AGAAAATCTCCTGAAAAAGAG 0.378 NaN 0 0 0 0.00874 0 40 27 MEP1A 4224 broad.mit.edu 37 6 46806751 46806751 + Nonsense_Mutation SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:46806751G>T uc010jzh.1 + 14 2161 c.2119G>T c.(2119-2121)GAG>TAG p.E707* MEP1A_uc011dwg.1_Nonsense_Mutation_p.E429*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.E735*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.E607* NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 707 EGF-like.|Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) CTACACGGGGGAGCGCTGTCA 0.587 NaN 1 0 2.61895e-37 0.00361 3.16905e-37 82 87 ENPP3 5169 broad.mit.edu 37 6 131971180 131971180 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:131971180G>A uc003qcu.3 + 4 515 c.168G>A c.(166-168)AAG>AAA p.K56K ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Silent_p.K22K|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.K56K NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 56 Extracellular (Potential).|SMB 1. 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) GCTGCAGGAAGAAGTGCTTTG 0.463 NaN 0 0 0 0.00623 0 41 55 TAAR6 319100 broad.mit.edu 37 6 132891943 132891943 + Silent SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:132891943C>A uc011eck.1 + 1 483 c.483C>A c.(481-483)CTC>CTA p.L161L NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 161 Helical; Name=4; (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCCTGCCCCTCATGTACAGCG 0.502 NaN 1 0 2.98797e-67 0.00361 3.6489e-67 155 154 TAB2 23118 broad.mit.edu 37 6 149700620 149700620 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:149700620G>C uc003qmj.2 + 3 1747 c.1569G>C c.(1567-1569)CTG>CTC p.L523L TAB2_uc011eec.1_Silent_p.L491L|TAB2_uc010kia.1_Silent_p.L523L|TAB2_uc010kib.1_Silent_p.L523L|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 523 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 CACGGAAACTGAGTATGGGAT 0.413 NaN 0 0 0 0.003271 0 35 31 HOXA2 3199 broad.mit.edu 37 7 27140803 27140803 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:27140803C>T uc003syh.2 - 2 948 c.673G>A c.(673-675)GAG>AAG p.E225K NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 225 nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TCCTCGTCCTCCTCTACTTTC 0.517 NaN 0 0 0 0.00361 0 47 44 TNS3 64759 broad.mit.edu 37 7 47453569 47453569 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:47453569G>C uc003tnv.2 - 12 980 c.613C>G c.(613-615)CAA>GAA p.Q205E TNS3_uc003tnw.2_Missense_Mutation_p.Q205E|TNS3_uc010kyo.1_Missense_Mutation_p.Q205E NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 205 C2 tensin-type. focal adhesion protein binding ovary(4) 4 TGCATGGCTTGGTAGAGCTTC 0.473 NaN 0 0 0 0.00361 0 61 84 ZPBP 11055 broad.mit.edu 37 7 50023061 50023061 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:50023061G>A uc003tou.2 - 7 908 c.838C>T c.(838-840)CGT>TGT p.R280C ZPBP_uc011kci.1_Missense_Mutation_p.R206C|ZPBP_uc010kyw.2_Missense_Mutation_p.R279C NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 280 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TGTTCTGCACGTCTGCCAAGA 0.323 NaN 0 0 0 0.00333 0 26 20 PCLO 27445 broad.mit.edu 37 7 82785410 82785410 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:82785410C>T uc003uhx.2 - 2 836 c.547G>A c.(547-549)GAG>AAG p.E183K PCLO_uc003uhv.2_Missense_Mutation_p.E183K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 183 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGGGATGCCTCAGAGTCTGAT 0.418 NaN 0 0 0 0.002096 0 29 30 PSMC2 5701 broad.mit.edu 37 7 103003152 103003152 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:103003152C>G uc003vbs.2 + 6 512 c.442C>G c.(442-444)CAA>GAA p.Q148E SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.Q11E NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 148 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 AAATAAATATCAAATTCACAT 0.333 NaN 0 0 0 0.00361 0 52 4 ST7 7982 broad.mit.edu 37 7 116849888 116849888 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr7:116849888G>A uc003vin.2 + 13 1516 c.1302G>A c.(1300-1302)CTG>CTA p.L434L ST7_uc011knl.1_Silent_p.L411L|ST7_uc003vio.2_Silent_p.L411L|ST7_uc003viq.2_Silent_p.L388L|ST7_uc011knm.1_Silent_p.L391L|ST7_uc003vir.2_Silent_p.L359L|ST7_uc011knn.1_Silent_p.L382L|ST7OT3_uc003viy.1_RNA NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b 434 integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) AACATATCCTGAAGAGAGGAG 0.388 NaN 0 0 0 0.000248 0 4 33 STC1 6781 broad.mit.edu 37 8 23709043 23709043 + Missense_Mutation SNP C C A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:23709043C>A uc003xdw.1 - 3 547 c.263G>T c.(262-264)GGA>GTA p.G88V NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 88 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GAATGCTTTTCCCTGCCATGG 0.507 NaN 1 0 4.36969e-10 0.001855 5.12375e-10 12 21 PXDNL 137902 broad.mit.edu 37 8 52321351 52321351 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:52321351C>T uc003xqu.3 - 17 2934 c.2833G>A c.(2833-2835)GCG>ACG p.A945T PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 945 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCCTGTCGCGCGCACTCGGTG 0.647 NaN 0 0 0 0.000978 0 12 19 TMEM68 137695 broad.mit.edu 37 8 56675387 56675387 + Silent SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:56675387G>C uc003xsg.1 - 1 201 c.132C>G c.(130-132)CTC>CTG p.L44L TMEM68_uc003xsh.1_Silent_p.L44L|TMEM68_uc003xsi.1_Silent_p.L44L NM_152417 NP_689630 Q96MH6 TMM68_HUMAN transmembrane protein 68 44 integral to membrane acyltransferase activity skin(1) 1 Epithelial(17;0.000361)|all cancers(17;0.00326) AAACCCACAAGAGATAGTTTG 0.338 NaN 0 0 0 0.00499 0 16 27 EXT1 2131 broad.mit.edu 37 8 118842578 118842578 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:118842578G>A uc003yok.1 - 4 1948 c.1175C>T c.(1174-1176)ACA>ATA p.T392I NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 392 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) AGACCTGATTGTAGAAGGAAT 0.353 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 0 0 0 0.004007 0 16 24 C8orf76 84933 broad.mit.edu 37 8 124253503 124253503 + Silent SNP G G T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr8:124253503G>T uc003yqc.1 - 1 115 c.84C>A c.(82-84)CCC>CCA p.P28P C8orf76_uc003yqd.2_Intron NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 28 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AGTAGGACGCGGGCGGTCCTG 0.557 NaN 1 0 7.48243e-07 0.006214 8.69668e-07 10 9 SLC1A1 6505 broad.mit.edu 37 9 4585317 4585317 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:4585317G>A uc003zij.1 + 12 1570 c.1334G>A c.(1333-1335)CGG>CAG p.R445Q C9orf68_uc003zik.2_Intron NM_004170 NP_004161 P43005 EAA3_HUMAN solute carrier family 1, member 1 445 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) CCCAGGGACCGGTTCAGGACC 0.507 NaN 0 0 0 0.002096 0 30 59 ZDHHC21 340481 broad.mit.edu 37 9 14674276 14674276 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:14674276G>A uc003zli.2 - 4 533 c.63C>T c.(61-63)GTC>GTT p.V21V ZDHHC21_uc003zlg.1_Intron NM_178566 NP_848661 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 21 Helical; (Potential). nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(50;4.31e-06) ACCAAACAAAGACAATCAAAC 0.378 NaN 0 0 0 0.004672 0 3 45 PSIP1 11168 broad.mit.edu 37 9 15468842 15468842 + Splice_Site SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:15468842C>G uc003zlv.3 - 14 1537 c.1207_splice c.e14-1 p.I403_splice PSIP1_uc003zlw.3_Splice_Site_p.I403_splice NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) ATCGCCGTATCTGAGAAAACA 0.299 NaN 0 0 0 0.008871 0 20 3 FAM189A2 9413 broad.mit.edu 37 9 71990748 71990748 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:71990748C>T uc010mon.1 + 4 324 c.220C>T c.(220-222)CAG>TAG p.Q74* FAM189A2_uc004ahg.2_Nonsense_Mutation_p.Q74*|FAM189A2_uc010moo.1_5'UTR NM_001127608 NP_001121080 Q15884 F1892_HUMAN chromosome 9 open reading frame 61 precursor 74 integral to membrane 0 CTTTCCGGTTCAGCCCTGTAG 0.463 NaN 0 0 0 0.00361 0 57 4 HSD17B3 3293 broad.mit.edu 37 9 98997817 98997817 + Missense_Mutation SNP G G C TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr9:98997817G>C uc004awa.1 - 11 906 c.858C>G c.(856-858)TTC>TTG p.F286L HSD17B3_uc010msc.1_Missense_Mutation_p.F236L NM_000197 NP_000188 P37058 DHB3_HUMAN estradiol 17 beta-dehydrogenase 3 286 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity 0 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CACCGCTGTAGAAGGCCCAGG 0.537 NaN 0 0 0 0.001882 0 18 0 CXorf38 159013 broad.mit.edu 37 X 40506339 40506339 + Missense_Mutation SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:40506339G>A uc004dew.2 - 2 276 c.271C>T c.(271-273)CAT>TAT p.H91Y CXorf38_uc011mko.1_Intron|CXorf38_uc004dev.1_5'UTR|CXorf38_uc010nhd.2_RNA NM_144970 NP_659407 Q8TB03 CX038_HUMAN hypothetical protein LOC159013 91 ovary(1) 1 CTGTTGACATGATGTCTCAAA 0.632 NaN 0 0 0 0.005443 0 27 0 HUWE1 10075 broad.mit.edu 37 X 53631583 53631583 + Missense_Mutation SNP G G C rs141644800 TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:53631583G>C uc004dsp.2 - 26 3111 c.2709C>G c.(2707-2709)ATC>ATG p.I903M NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 903 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CAAACATCATGATGTAGGCAT 0.473 NaN 0 0 0 0.003271 0 34 0 IL2RG 3561 broad.mit.edu 37 X 70327696 70327696 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:70327696C>G uc004dyw.1 - 8 1014 c.1000G>C c.(1000-1002)GAG>CAG p.E334Q CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.E63Q|IL2RG_uc004dyx.1_Missense_Mutation_p.E144Q NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor 334 Cytoplasmic (Potential). immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GGGGGAATCTCACTGACGAGG 0.597 NaN Severe_Combined_Immunodeficiency_X-linked 0 0 0 0.001786 0 31 0 IL2RG 3561 broad.mit.edu 37 X 70327726 70327726 + Missense_Mutation SNP C C G TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:70327726C>G uc004dyw.1 - 8 984 c.970G>C c.(970-972)GAC>CAC p.D324H CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.D53H|IL2RG_uc004dyx.1_Missense_Mutation_p.D134H NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor 324 Cytoplasmic (Potential). immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) TCACTGTAGTCTGGCTGCAGA 0.577 NaN Severe_Combined_Immunodeficiency_X-linked 0 0 0 0.003271 0 36 0 STAG2 10735 broad.mit.edu 37 X 123197011 123197011 + Nonsense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq;WGS Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:123197011C>T uc004etz.3 + 18 2116 c.1777C>T c.(1777-1779)CAG>TAG p.Q593* STAG2_uc004eua.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q593*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q593* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 593 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GCAGTTGCCTCAGTACTTTGA 0.279 NaN 0 0 0 0.002445 0 31 1 RENBP 5973 broad.mit.edu 37 X 153205630 153205630 + Silent SNP G G A TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chrX:153205630G>A uc004fjo.1 - 9 1172 c.1002C>T c.(1000-1002)CTC>CTT p.L334L NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 334 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TGTAACCCATGAGGAAGGCAA 0.602 NaN 0 0 0 0.00361 0 46 1 SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:102122901delT uc001tiq.2 - 8 775 c.643delA c.(643-645)ATTfs p.I215fs CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Frame_Shift_Del_p.I215fs|SYCP3_uc001tis.2_Frame_Shift_Del_p.I215fs NM_153694 NP_710161 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Potential.|Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding 0 TCCATCATAATTTTTTTTTGC 0.259 NaN NaN NaN NaN NaN NaN 7 70 --- --- NCOR2 9612 broad.mit.edu 37 12 124885065 124885065 + Frame_Shift_Del DEL G G - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr12:124885065delG uc010tba.1 - 15 1912 c.1795delC c.(1795-1797)CAGfs p.Q599fs NCOR2_uc010tay.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.Q598fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.Q599fs NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 599 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCGCTCTGCTGGGGGGTGATG 0.622 NaN NaN NaN NaN NaN NaN 65 92 --- --- ITFG1 81533 broad.mit.edu 37 16 47195718 47195719 + Frame_Shift_Ins INS - - CAGTC TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr16:47195718_47195719insCAGTC uc002eet.2 - 16 1665_1666 c.1603_1604insGACTG c.(1603-1605)GCAfs p.A535fs ITFG1_uc010vgg.1_Frame_Shift_Ins_p.A280fs|ITFG1_uc010vgh.1_Frame_Shift_Ins_p.A422fs NM_030790 NP_110417 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 535 extracellular region|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) TGGAATGATTGCAGTCCACTCT 0.337 NaN NaN NaN NaN NaN NaN 7 109 --- --- MEX3D 399664 broad.mit.edu 37 19 1556090 1556090 + Frame_Shift_Del DEL A A - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:1556090delA uc010dsn.2 - 2 1428 c.1428delT c.(1426-1428)TTTfs p.F476fs NM_203304 NP_976049 Q86XN8 MEX3D_HUMAN ring finger and KH domain containing 1 476 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding lung(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCGCGCTCAAAAGGCGCCC 0.652 NaN NaN NaN NaN NaN NaN 2 4 --- --- RASIP1 54922 broad.mit.edu 37 19 49232663 49232663 + Frame_Shift_Del DEL C C - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr19:49232663delC uc002pki.2 - 5 1561 c.1364delG c.(1363-1365)GGCfs p.G455fs NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 455 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GACTGGGGCGCCCCGGGACGG 0.701 NaN NaN NaN NaN NaN NaN 2 4 --- --- CDKN1A 1026 broad.mit.edu 37 6 36651923 36651930 + Frame_Shift_Del DEL CAAGGCCT CAAGGCCT - TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 CAAGGCCT - CAAGGCCT CAAGGCCT Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx acc629cb-ad03-4cec-9b21-922e4932ef3e 7c729b94-1488-4dec-b534-5d73530e535c g.chr6:36651923_36651930delCAAGGCCT uc003omm.3 + 2 167_174 c.45_52delCAAGGCCT c.(43-54)AGCAAGGCCTGCfs p.S15fs CDKN1A_uc011dtq.1_Frame_Shift_Del_p.S49fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.S15fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.S15fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 15_18 Required for binding cyclins.|C4-type (Potential). cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 CATGCGGCAGCAAGGCCTGCCGCCGCCT 0.635 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 11 1 --- ---