Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PIK3CD 5293 broad.mit.edu 37 1 9784117 9784117 + Silent SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:9784117C>T uc001aqb.3 + 21 2893 c.2685C>T c.(2683-2685)CAC>CAT p.H895H PIK3CD_uc010oaf.1_Silent_p.H894H|PIK3CD_uc001aqe.3_Silent_p.H919H NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 895 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GCGATCGGCACAGCGACAACA 0.632 NA 57 54 0 0 0 0 HFM1 164045 broad.mit.edu 37 1 91727880 91727880 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:91727880C>T uc001doa.3 - 38 4256 c.4156G>A c.(4156-4158)GAA>AAA p.E1386K HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.E1065K|HFM1_uc001dob.3_Missense_Mutation_p.E574K NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1386 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GGGTTTTTTTCAGAGAAAGTA 0.284 NA 10 58 0 0 0 0 HFM1 164045 broad.mit.edu 37 1 91728133 91728133 + Missense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:91728133C>G uc001doa.3 - 37 4091 c.3991G>C c.(3991-3993)GAG>CAG p.E1331Q HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.E1010Q|HFM1_uc001dob.3_Missense_Mutation_p.E519Q NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1331 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCCGACATCTCATGTGATGAA 0.303 NA 8 59 0 0 0 0 FAM102B 284611 broad.mit.edu 37 1 109167328 109167328 + Missense_Mutation SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:109167328A>G uc010ouy.1 + 6 594 c.514A>G c.(514-516)AGA>GGA p.R172G NM_001010883 NP_001010883 Q5T8I3 F102B_HUMAN hypothetical protein LOC284611 172 large_intestine(1) 1 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) GCAAGAAGATAGAAAAGGTGG 0.423 NA 26 39 0 0 0 0 MEX3A 92312 broad.mit.edu 37 1 156046882 156046882 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:156046882G>A uc001fnd.3 - 2 1046 c.1046C>T c.(1045-1047)TCT>TTT p.S349F NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 349 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) CTCAAAGCCAGAGTCCACTCC 0.672 NA 6 84 0 0 0 0 FCGR2B 2213 broad.mit.edu 37 1 161642856 161642856 + Silent SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:161642856C>G uc001gaz.1 + 4 575 c.483C>G c.(481-483)GTC>GTG p.V161V FCGR2B_uc009wum.1_Silent_p.V161V|FCGR2B_uc001gay.1_Silent_p.V160V|FCGR2B_uc001gba.1_Silent_p.V160V|FCGR2B_uc001gbb.1_Silent_p.V161V|FCGR2B_uc009wun.1_Silent_p.V154V NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 161 Ig-like C2-type 2.|Extracellular (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGCCTCTGGTCAAGGTCACAT 0.522 NA T ? ALL 7 22 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197091047 197091047 + Nonsense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:197091047G>A uc001gtu.2 - 16 4125 c.3868C>T c.(3868-3870)CAG>TAG p.Q1290* ASPM_uc001gtv.2_Nonsense_Mutation_p.Q1290*|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1290 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AGGAGTACCTGATGGCGTTTG 0.318 NA 4 61 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240256692 240256692 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:240256692C>T uc010pyd.1 + 1 1508 c.1283C>T c.(1282-1284)TCG>TTG p.S428L FMN2_uc010pye.1_Missense_Mutation_p.S428L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 428 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGCTCAGCTCGCCCAATCAC 0.667 NA 6 64 0 0 0 0 EXO1 9156 broad.mit.edu 37 1 242016725 242016725 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:242016725G>C uc001hzh.2 + 6 887 c.347G>C c.(346-348)CGA>CCA p.R116P EXO1_uc001hzi.2_Missense_Mutation_p.R116P|EXO1_uc001hzj.2_Missense_Mutation_p.R116P|EXO1_uc009xgq.2_Missense_Mutation_p.R116P NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 116 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TCGGAAGCTCGAGAGTGTTTC 0.423 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 12 85 0 0 0 0 C1orf101 257044 broad.mit.edu 37 1 244641251 244641251 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr1:244641251G>A uc001iam.2 + 4 291 c.232G>A c.(232-234)GCT>ACT p.A78T C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.2_Missense_Mutation_p.A78T|C1orf101_uc010pym.1_5'UTR|C1orf101_uc010pyn.1_Missense_Mutation_p.A81T NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 78 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TGGTGTTCACGCTATAAAACC 0.318 NA 6 84 0 0 0 0 DIP2C 22982 broad.mit.edu 37 10 445090 445090 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr10:445090C>T uc001ifp.2 - 10 1309 c.1219G>A c.(1219-1221)GAG>AAG p.E407K DIP2C_uc009xhj.1_Missense_Mutation_p.E103K NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 407 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GGGACCACCTCGGCCAGCAGG 0.617 NA 5 33 0 0 0 0 ITGA8 8516 broad.mit.edu 37 10 15649678 15649678 + Nonsense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr10:15649678G>A uc001ioc.1 - 17 1762 c.1762C>T c.(1762-1764)CGA>TGA p.R588* ITGA8_uc010qcb.1_Nonsense_Mutation_p.R573* NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 588 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ATACTTACTCGAAGGTAAACG 0.448 NA 24 222 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16882891 16882891 + Silent SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr10:16882891G>A uc001ioo.2 - 61 9871 c.9819C>T c.(9817-9819)ATC>ATT p.I3273I NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3273 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CACTGTCCATGATGGTGTATG 0.343 NA 8 41 0 0 0 0 ZNF485 220992 broad.mit.edu 37 10 44112550 44112550 + Silent SNP G G A rs141606024 byFrequency TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr10:44112550G>A uc010qfc.1 + 5 1253 c.1059G>A c.(1057-1059)CCG>CCA p.P353P ZNF485_uc010qfd.1_Silent_p.P262P NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAAATAAACCGTATCAGTGTC 0.418 NA 4 80 0 0 0 0 CXCL12 6387 broad.mit.edu 37 10 44876302 44876302 + Missense_Mutation SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr10:44876302A>G uc001jbf.2 - 2 177 c.88T>C c.(88-90)TGC>CGC p.C30R CXCL12_uc001jbh.2_Missense_Mutation_p.C30R|CXCL12_uc001jbi.2_Missense_Mutation_p.C30R NM_000609 NP_000600 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 (stromal 30 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity 0 Dexamethasone(DB01234) CGGCATGGGCATCTGTAGCTC 0.493 NA 18 136 0 0 0 0 ERCC6 2074 broad.mit.edu 37 10 50732560 50732560 + Missense_Mutation SNP C C A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr10:50732560C>A uc001jhs.3 - 5 1070 c.916G>T c.(916-918)GCC>TCC p.A306S PGBD3_uc001jht.2_5'Flank|PGBD3_uc009xoe.2_Missense_Mutation_p.A306S|PGBD3_uc001jhu.2_Missense_Mutation_p.A306S NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 306 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 TGCACTGGGGCTGGAGGCGTG 0.428 NA Direct_reversal_of_damage|NER 66 110 5.01e-31 6.22e-31 1 0 PPRC1 23082 broad.mit.edu 37 10 103900410 103900410 + Silent SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr10:103900410C>T uc001kum.2 + 5 2184 c.2145C>T c.(2143-2145)TCC>TCT p.S715S PPRC1_uc001kun.2_Silent_p.S595S|PPRC1_uc010qqj.1_Silent_p.S715S|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 715 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) AGTCAGAGTCCTTGGACCCAC 0.532 NA 8 61 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108923927 108923927 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr10:108923927G>A uc001kym.2 - 1 366 c.358C>T c.(358-360)CGG>TGG p.R120W SORCS1_uc001kyl.2_Missense_Mutation_p.R120W|SORCS1_uc009xxs.2_Missense_Mutation_p.R120W|SORCS1_uc001kyn.1_Missense_Mutation_p.R120W|SORCS1_uc001kyo.2_Missense_Mutation_p.R120W NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 120 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCCTCTCCCCGTTCTGCCTTC 0.701 NA 5 28 0 0 0 0 ANO3 63982 broad.mit.edu 37 11 26529794 26529794 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr11:26529794G>C uc001mqt.3 + 5 721 c.576G>C c.(574-576)TTG>TTC p.L192F ANO3_uc010rdr.1_Missense_Mutation_p.L176F|ANO3_uc010rds.1_Missense_Mutation_p.L46F|ANO3_uc010rdt.1_Missense_Mutation_p.L46F NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 192 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAGAAGGCTTGATGTTGGAGA 0.299 NA 19 20 0 0 0 0 OR4C3 256144 broad.mit.edu 37 11 48346829 48346829 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr11:48346829G>A uc010rhv.1 + 1 337 c.337G>A c.(337-339)GAG>AAG p.E113K NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTCATTGTATGAGGGGAGAAC 0.443 NA 10 204 0 0 0 0 OR5J2 282775 broad.mit.edu 37 11 55944828 55944828 + Silent SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr11:55944828G>T uc010rjb.1 + 1 735 c.735G>T c.(733-735)CTG>CTT p.L245L NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) CCTCTCACCTGACTGCTGTGA 0.438 NA 10 77 3.86e-05 4.35e-05 1 0 OR5T2 219464 broad.mit.edu 37 11 56000661 56000661 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr11:56000661T>C uc010rjc.1 - 1 1 c.1A>G c.(1-3)ATG>GTG p.M1V NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CTGTACGACATATATTCAGCA 0.373 NA 42 52 0 0 0 0 PPFIA1 8500 broad.mit.edu 37 11 70172809 70172809 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr11:70172809G>C uc001opo.2 + 7 1013 c.815G>C c.(814-816)CGC>CCC p.R272P PPFIA1_uc001opn.1_Missense_Mutation_p.R272P|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 272 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) ATGAAAGAACGCCTGGCTTCC 0.423 NA 54 876 0 0 0 0 DDX10 1662 broad.mit.edu 37 11 108788633 108788633 + Missense_Mutation SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr11:108788633A>G uc001pkm.2 + 17 2403 c.2338A>G c.(2338-2340)AGT>GGT p.S780G DDX10_uc001pkl.1_Missense_Mutation_p.S780G NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TCTGGATTGGAGtgatgatga 0.318 NA T NUP98 AML* 3 65 0 0 0 0 SLC6A13 6540 broad.mit.edu 37 12 333173 333173 + Silent SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr12:333173C>G uc001qic.1 - 11 1349 c.1296G>C c.(1294-1296)CTG>CTC p.L432L SLC6A13_uc009zdj.1_Silent_p.L422L|SLC6A13_uc010sdl.1_Silent_p.L340L NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 432 Helical; Name=9; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TGAGCATGATCAGCCCCACAA 0.592 NA 4 60 0 0 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091182 11091182 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr12:11091182G>C uc010shi.1 - 1 625 c.625C>G c.(625-627)CGC>GGC p.R209G PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 209 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity 0 ATCTTCTTGCGATGTTTCCAC 0.433 NA 12 59 0 0 0 0 C12orf60 144608 broad.mit.edu 37 12 14976222 14976222 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr12:14976222C>T uc001rcj.3 + 2 557 c.353C>T c.(352-354)GCC>GTC p.A118V NM_175874 NP_787070 Q5U649 CL060_HUMAN hypothetical protein LOC144608 118 ovary(1)|central_nervous_system(1) 2 TTCAAAAGTGCCCATACGCCA 0.428 NA 5 103 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20769270 20769270 + Missense_Mutation SNP G G A rs141325069 byFrequency TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr12:20769270G>A uc001reh.1 + 4 1398 c.1376G>A c.(1375-1377)CGG>CAG p.R459Q NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 459 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) GCACCAGTACGGAGAGACCGC 0.542 NA 8 89 0 0 0 0 KRT77 374454 broad.mit.edu 37 12 53086338 53086338 + Missense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr12:53086338C>G uc001saw.2 - 7 1323 c.1294G>C c.(1294-1296)GAG>CAG p.E432Q KRT77_uc009zmi.2_Missense_Mutation_p.E190Q NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN keratin 77 432 Rod.|Coil 2. keratin filament structural molecule activity ovary(1) 1 AGGGCCTCCTCCAGGTCCTGC 0.622 NA 9 38 0 0 0 0 SLC16A7 9194 broad.mit.edu 37 12 60169150 60169150 + Silent SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr12:60169150C>G uc001sqs.2 + 5 1373 c.1074C>G c.(1072-1074)CTC>CTG p.L358L SLC16A7_uc001sqt.2_Silent_p.L358L|SLC16A7_uc001squ.2_Silent_p.L358L|SLC16A7_uc009zqi.2_Silent_p.L259L|SLC16A7_uc010ssi.1_Silent_p.L259L NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 358 Helical; (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) GCAGTGTTCTCTTTGAAACTC 0.502 NA 18 123 0 0 0 0 RAB3IP 117177 broad.mit.edu 37 12 70206629 70206629 + Missense_Mutation SNP A A C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr12:70206629A>C uc001svp.2 + 9 1697 c.1250A>C c.(1249-1251)TAT>TCT p.Y417S RAB3IP_uc001svm.2_Missense_Mutation_p.Y401S|RAB3IP_uc001svn.2_Intron|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Intron|RAB3IP_uc001svr.2_Intron|RAB3IP_uc001svs.2_RNA|RAB3IP_uc001svt.2_Missense_Mutation_p.Y195S NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 417 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) AGCAACTATTATTATATTTCT 0.328 NA 23 59 0 0 0 0 HSP90B1 7184 broad.mit.edu 37 12 104337038 104337038 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr12:104337038G>T uc001tkb.1 + 13 1936 c.1831G>T c.(1831-1833)GTT>TTT p.V611F HSP90B1_uc010swg.1_Missense_Mutation_p.V276F|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 611 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) TCGTGAAGCAGTTGAGAAAGA 0.418 NA 15 33 8.6e-14 1.03e-13 1 0 RCBTB2 1102 broad.mit.edu 37 13 49076892 49076892 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr13:49076892G>A uc001vch.2 - 11 1456 c.1085C>T c.(1084-1086)ACG>ATG p.T362M RCBTB2_uc010tgg.1_Missense_Mutation_p.T367M|RCBTB2_uc001vci.2_Missense_Mutation_p.T338M|RCBTB2_uc010tgh.1_Missense_Mutation_p.T88M|RCBTB2_uc001vcj.2_Missense_Mutation_p.T314M|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_3'UTR NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 362 RCC1 6. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GACGGCGGGCGTGGCAAAGCA 0.612 NA 5 57 0 0 0 0 FARP1 10160 broad.mit.edu 37 13 99047720 99047720 + Silent SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr13:99047720G>A uc001vnj.2 + 13 1740 c.1404G>A c.(1402-1404)CAG>CAA p.Q468Q FARP1_uc001vnh.2_Silent_p.Q468Q NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 468 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGCCCCCGCAGCCAAGCACAG 0.592 NA 31 41 0 0 0 0 ATP11A 23250 broad.mit.edu 37 13 113481200 113481200 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr13:113481200G>A uc001vsi.3 + 12 1304 c.1216G>A c.(1216-1218)GGA>AGA p.G406R ATP11A_uc001vsj.3_Missense_Mutation_p.G406R|ATP11A_uc001vsm.1_Missense_Mutation_p.G282R NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 406 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TGAAGAGCTGGGACAGGTTGG 0.547 NA 5 13 0 0 0 0 OR11G2 390439 broad.mit.edu 37 14 20665703 20665703 + Missense_Mutation SNP C C A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr14:20665703C>A uc010tlb.1 + 1 209 c.209C>A c.(208-210)ACT>AAT p.T70N NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 70 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) GTGCTCTTCACTGTTGTTTAC 0.567 NA 58 48 6.21e-19 7.63e-19 1 0 NYNRIN 57523 broad.mit.edu 37 14 24886290 24886290 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr14:24886290G>A uc001wpf.3 + 9 5653 c.5335G>A c.(5335-5337)GCA>ACA p.A1779T NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1779 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GATGAGCAGCGCAAACATTGA 0.617 NA 4 137 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64491050 64491050 + Silent SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr14:64491050C>T uc001xgm.2 + 39 5943 c.5713C>T c.(5713-5715)CTG>TTG p.L1905L SYNE2_uc001xgl.2_Silent_p.L1905L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1905 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAAGAAGCATCTGCCCAAAGC 0.433 NA 29 41 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71543136 71543136 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr14:71543136G>T uc001xmo.2 + 28 5783 c.5337G>T c.(5335-5337)AAG>AAT p.K1779N PCNX_uc010are.1_Missense_Mutation_p.K1668N|PCNX_uc010arf.1_Missense_Mutation_p.K567N NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1779 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GAAGAGCAAAGGTAGAGTTTA 0.403 NA 8 23 0.000157383 0.000174356 1 0 TMEM63C 57156 broad.mit.edu 37 14 77715746 77715746 + Missense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr14:77715746C>G uc001xtf.2 + 21 2195 c.1983C>G c.(1981-1983)ATC>ATG p.I661M TMEM63C_uc010asq.1_Missense_Mutation_p.I661M NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 661 Helical; (Potential). integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCCAGGCCATCTTTGCGCCAC 0.562 NA 9 48 0 0 0 0 EML1 2009 broad.mit.edu 37 14 100376629 100376629 + Silent SNP T T G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr14:100376629T>G uc001ygs.2 + 12 1359 c.1290T>G c.(1288-1290)GGT>GGG p.G430G EML1_uc010tww.1_Silent_p.G418G|EML1_uc001ygq.2_Silent_p.G449G|EML1_uc001ygr.2_Silent_p.G449G NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 430 WD 4. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) CTGAAAACGGTGACACCATTA 0.333 NA 12 73 0 0 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40313219 40313219 + Silent SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr15:40313219C>T uc001zkm.1 + 31 4343 c.4293C>T c.(4291-4293)GAC>GAT p.D1431D EIF2AK4_uc010bbj.1_Silent_p.D1132D|EIF2AK4_uc001zkn.1_Silent_p.D531D|EIF2AK4_uc001zko.1_Silent_p.D312D|EIF2AK4_uc010bbk.1_RNA NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1431 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TCATGTACGACTGGTCACAGG 0.473 NA 5 36 0 0 0 0 CAPN3 825 broad.mit.edu 37 15 42703502 42703502 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr15:42703502G>C uc001zpn.1 + 23 2704 c.2398G>C c.(2398-2400)GAC>CAC p.D800H CAPN3_uc001zpk.1_Missense_Mutation_p.D567H|CAPN3_uc001zpl.1_Missense_Mutation_p.D707H|CAPN3_uc010udf.1_Missense_Mutation_p.D713H|CAPN3_uc010udg.1_Missense_Mutation_p.D665H|CAPN3_uc001zpo.1_Missense_Mutation_p.D794H|CAPN3_uc001zpp.1_Missense_Mutation_p.D708H|CAPN3_uc001zpq.1_Missense_Mutation_p.D288H|CAPN3_uc010bcv.1_Missense_Mutation_p.D135H|CAPN3_uc001zpr.1_Missense_Mutation_p.D135H|CAPN3_uc001zps.1_Missense_Mutation_p.D135H|CAPN3_uc001zpt.1_Missense_Mutation_p.D135H NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 800 EF-hand 4.|Domain IV. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TCATGCATTTGACAAGGATGG 0.498 NA 16 61 0 0 0 0 C15orf27 123591 broad.mit.edu 37 15 76452436 76452436 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr15:76452436T>C uc002bbq.2 + 5 538 c.383T>C c.(382-384)TTT>TCT p.F128S C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 128 integral to membrane 0 TCCATTGCAGTTTCCAGCGCA 0.557 NA 27 123 0 0 0 0 ABCC1 4363 broad.mit.edu 37 16 16232272 16232272 + Silent SNP G G A rs36115566 TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr16:16232272G>A uc010bvi.2 + 30 4519 c.4344G>A c.(4342-4344)ACG>ACA p.T1448T ABCC1_uc010bvj.2_Silent_p.T1389T|ABCC1_uc010bvk.2_Silent_p.T1392T|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Silent_p.T1333T|ABCC1_uc002del.3_Silent_p.T1342T NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1448 ABC transporter 2.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGAGGAAGACGAAGATCCTTG 0.597 NA 7 41 0 0 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601269 55601269 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr16:55601269G>C uc002eid.1 + 1 686 c.601G>C c.(601-603)GAT>CAT p.D201H LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron NM_032330 NP_115706 Q96L46 CPNS2_HUMAN calpain small subunit 2 201 EF-hand 3. cytoplasm|plasma membrane calcium ion binding 0 TGCTAATGAAGATGGAGATAT 0.488 NA 12 171 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 57954416 57954416 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr16:57954416G>T uc002emt.2 - 19 1741 c.1676C>A c.(1675-1677)ACA>AAA p.T559K CNGB1_uc010cdh.2_Missense_Mutation_p.T553K NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 559 Cytoplasmic (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GGCGCTATTTGTGCTGGCCGT 0.612 NA 5 67 2.77e-08 3.25e-08 1 0 AP1G1 164 broad.mit.edu 37 16 71779057 71779057 + Silent SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr16:71779057G>A uc010cgg.2 - 19 2303 c.1989C>T c.(1987-1989)ATC>ATT p.I663I AP1G1_uc002fba.2_Silent_p.I666I|AP1G1_uc002fbb.2_Silent_p.I686I|AP1G1_uc002faz.2_Silent_p.I80I NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 663 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) CTGTAAGGTTGATGTCTCCCA 0.448 NA 4 58 0 0 0 0 TUSC5 286753 broad.mit.edu 37 17 1183425 1183425 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:1183425T>C uc002fsi.1 + 1 469 c.130T>C c.(130-132)TCC>CCC p.S44P NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN LOST1 44 response to biotic stimulus integral to membrane skin(2) 2 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCTGAATCTGTCCAAGACCCT 0.617 NA 27 65 0 0 0 0 POLR2A 5430 broad.mit.edu 37 17 7403976 7403976 + Missense_Mutation SNP C C A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:7403976C>A uc002ghf.3 + 11 1924 c.1690C>A c.(1690-1692)CTG>ATG p.L564M NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 564 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) GATGAACCTCCTGATGTTCCT 0.542 NA 12 41 7.04e-09 8.31e-09 1 0 TP53 7157 broad.mit.edu 37 17 7578553 7578553 + Missense_Mutation SNP T T G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:7578553T>G uc002gim.2 - 5 571 c.377A>C c.(376-378)TAC>TCC p.Y126S TP53_uc002gig.1_Missense_Mutation_p.Y126S|TP53_uc002gih.2_Missense_Mutation_p.Y126S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.Y126S|TP53_uc010cni.1_Missense_Mutation_p.Y126S|TP53_uc002gij.2_Missense_Mutation_p.Y126S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y33S|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.Y87S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 126 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y126*(9)|p.0?(7)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126D(3)|p.Y126_N131delYSPALN(3)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126Y(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*24(1)|p.Y126fs*18(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAGGGGAGTACTGTAGGAA 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 14 0 0 0 0 MYO18A 399687 broad.mit.edu 37 17 27417044 27417044 + Missense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:27417044C>G uc002hdt.1 - 37 5619 c.5461G>C c.(5461-5463)GAA>CAA p.E1821Q MYO18A_uc010wbc.1_Missense_Mutation_p.E1354Q|MYO18A_uc002hds.2_Missense_Mutation_p.E1363Q|MYO18A_uc010csa.1_Missense_Mutation_p.E1784Q|MYO18A_uc002hdu.1_Missense_Mutation_p.E1821Q NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1821 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ATCTTAGCTTCCTGCCTGCTC 0.577 NA 3 23 0 0 0 0 GPR179 440435 broad.mit.edu 37 17 36483564 36483564 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:36483564G>A uc002hpz.2 - 11 5909 c.5888C>T c.(5887-5889)ACT>ATT p.T1963I NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1963 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGCTGGGGCAGTGGTCTCCCA 0.547 NA 15 32 0 0 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40839831 40839831 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:40839831C>T uc002iay.2 + 8 1354 c.1138C>T c.(1138-1140)CGT>TGT p.R380C CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 380 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity p.R380H(1) ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TTTCCCACGCCGTGGCCGCCT 0.637 NA 4 65 0 0 0 0 NXPH3 11248 broad.mit.edu 37 17 47656507 47656507 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:47656507G>T uc002ipa.2 + 2 888 c.604G>T c.(604-606)GAC>TAC p.D202Y NXPH3_uc010wlw.1_Missense_Mutation_p.D202Y NM_007225 NP_009156 O95157 NXPH3_HUMAN neurexophilin 3 precursor 202 V (Cys-rich). neuropeptide signaling pathway extracellular region pancreas(1)|skin(1) 2 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CTGCTCCCGAGACCACGCTCA 0.602 NA 20 73 8.28e-16 1e-15 1 0 MPO 4353 broad.mit.edu 37 17 56349077 56349077 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:56349077C>T uc002ivu.1 - 11 2146 c.1969G>A c.(1969-1971)GTG>ATG p.V657M NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 657 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) AGTGGGCCCACGCGGCCTTTG 0.632 NA 15 27 0 0 0 0 TUBB6 84617 broad.mit.edu 37 18 12310986 12310986 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr18:12310986G>A uc002kqw.2 + 3 256 c.211G>A c.(211-213)GGC>AGC p.G71S TUBB6_uc002kqv.2_5'UTR|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Intron|TUBB6_uc002kqy.2_Missense_Mutation_p.G71S NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 71 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) CTTAGAGCCAGGCACCATGGA 0.498 NA 4 45 0 0 0 0 CELF4 56853 broad.mit.edu 37 18 34853090 34853090 + Missense_Mutation SNP C C A rs150441111 by1000genomes TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr18:34853090C>A uc002lae.2 - 7 1234 c.838G>T c.(838-840)GCG>TCG p.A280S CELF4_uc010dnd.1_Missense_Mutation_p.A278S|CELF4_uc002lag.2_Missense_Mutation_p.A270S|CELF4_uc002laf.2_Missense_Mutation_p.A275S|CELF4_uc002lai.2_Missense_Mutation_p.A265S|CELF4_uc002lah.1_Missense_Mutation_p.A5S|CELF4_uc002laj.1_Missense_Mutation_p.R115L NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 280 Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CCGCCCTGCGCGACTGATGCC 0.647 NA 42 29 2.4e-13 2.87e-13 1 0 SH3GL1 6455 broad.mit.edu 37 19 4366921 4366921 + Splice_Site SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:4366921A>G uc002maj.2 - 2 220 c.114_splice c.e2+1 p.K38_splice SH3GL1_uc002mak.2_Splice_Site_p.K38_splice|SH3GL1_uc010xig.1_Splice_Site_p.K38_splice NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) TTTCTTCCTCACCTTCTCCAT 0.597 NA T MLL AL 32 229 0 0 0 0 ELAVL3 1995 broad.mit.edu 37 19 11568882 11568882 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:11568882C>T uc002mry.1 - 5 1087 c.707G>A c.(706-708)CGT>CAT p.R236H ELAVL3_uc002mrx.1_Missense_Mutation_p.R236H NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 236 cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 TCACCGGAAACGCTGGGTCTG 0.677 NA 11 26 0 0 0 0 IL27RA 9466 broad.mit.edu 37 19 14153306 14153306 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:14153306G>C uc002mxx.2 + 5 999 c.576G>C c.(574-576)GAG>GAC p.E192D NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 192 Extracellular (Potential).|Fibronectin type-III 1. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 CCCCTGTTGAGATCCAAGATT 0.567 NA OREG0025302 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 130 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22156075 22156075 + Silent SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:22156075G>T uc002nqp.2 - 5 1610 c.1461C>A c.(1459-1461)GGC>GGA p.G487G ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TAAAAGCTTTGCCACATTCTT 0.353 NA 3 42 0.004672 0.0049494 1 0 ZFP14 57677 broad.mit.edu 37 19 36831737 36831737 + Nonsense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:36831737G>A uc002odx.1 - 4 1084 c.991C>T c.(991-993)CAG>TAG p.Q331* ZFP14_uc010xtd.1_Nonsense_Mutation_p.Q332*|ZFP14_uc010eex.1_Nonsense_Mutation_p.Q331* NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 331 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TGAATTTTCTGATGTACTCTA 0.403 NA 31 177 0 0 0 0 ZNF790 388536 broad.mit.edu 37 19 37311007 37311007 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:37311007G>A uc002oew.2 - 5 358 c.239C>T c.(238-240)TCG>TTG p.S80L uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CTGACACCTCGACTGCATGTC 0.323 NA 22 125 0 0 0 0 ZNF570 148268 broad.mit.edu 37 19 37976077 37976077 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:37976077G>A uc002ogk.1 + 5 2082 c.1553G>A c.(1552-1554)AGA>AAA p.R518K ZNF570_uc010efl.1_Missense_Mutation_p.R574K|ZNF570_uc010xtr.1_Missense_Mutation_p.R315K NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 518 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATCACCAGAGAATTCACATT 0.269 NA 17 138 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40364231 40364231 + Missense_Mutation SNP C C A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:40364231C>A uc002omp.3 - 31 14419 c.14411G>T c.(14410-14412)GGC>GTC p.G4804V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4804 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GAAGACCTCGCCCAGTGGGTA 0.657 NA 31 118 2.48e-08 2.91e-08 1 0 PSG7 5676 broad.mit.edu 37 19 43430101 43430101 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:43430101G>A uc002ovl.3 - 6 1169 c.1067C>T c.(1066-1068)GCG>GTG p.A356V PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.A269V|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Missense_Mutation_p.A82V|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A269V|PSG7_uc010xwl.1_Missense_Mutation_p.A234V NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 356 Ig-like C2-type 3. female pregnancy extracellular region 0 Prostate(69;0.00682) GTTAGAGTCCGCAAAGCAGGA 0.448 NA 4 134 0 0 0 0 GRLF1 2909 broad.mit.edu 37 19 47423337 47423337 + Nonsense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:47423337G>T uc010ekv.2 + 1 1405 c.1405G>T c.(1405-1407)GAG>TAG p.E469* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 469 FF 3. 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) CCAGTGGCTGGAGGAATCTGT 0.378 NA 13 5 0.00010058 0.00011216 1 0 ZNF671 79891 broad.mit.edu 37 19 58238851 58238851 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:58238851G>A uc002qpz.3 - 1 145 c.46C>T c.(46-48)CGG>TGG p.R16W ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Translation_Start_Site|ZNF671_uc010yhf.1_Translation_Start_Site NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGGCACTTCCGTCCCTGCAGA 0.672 NA 10 17 0 0 0 0 HADHA 3030 broad.mit.edu 37 2 26455030 26455030 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr2:26455030T>C uc002rgy.2 - 6 701 c.571A>G c.(571-573)ATG>GTG p.M191V HADHA_uc010yks.1_Missense_Mutation_p.M104V|HADHA_uc010ykt.1_Missense_Mutation_p.M104V NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha 191 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) AGACTCACCATTTTGGGCAGC 0.398 NA 13 31 0 0 0 0 KIF5C 3800 broad.mit.edu 37 2 149850992 149850992 + Missense_Mutation SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr2:149850992A>G uc010zbu.1 + 17 2331 c.1963A>G c.(1963-1965)AGG>GGG p.R655G KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.R207G NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 655 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) ACAGAAGAGGAGGCAGCTAGA 0.493 NA 2 7 0 0 0 0 RIF1 55183 broad.mit.edu 37 2 152289598 152289598 + Silent SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr2:152289598A>G uc002txm.2 + 10 1063 c.933A>G c.(931-933)CTA>CTG p.L311L RIF1_uc002txl.2_Silent_p.L311L|RIF1_uc010fnv.1_Silent_p.L275L|RIF1_uc002txn.2_Silent_p.L311L|RIF1_uc002txo.2_Silent_p.L311L|RIF1_uc010zby.1_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 311 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) AAGATATACTATGTAGTGCAA 0.358 NA 8 32 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152363454 152363454 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr2:152363454C>T uc010fnx.2 - 135 18613 c.18422G>A c.(18421-18423)CGT>CAT p.R6141H NEB_uc002txr.2_Missense_Mutation_p.R2564H|RIF1_uc002txp.2_Intron|NEB_uc010zca.1_5'Flank|NEB_uc010zcb.1_Translation_Start_Site|NEB_uc002txt.3_Missense_Mutation_p.R646H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6141 Nebulin 168. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTTTTACACGCAGTATTTC 0.318 NA 24 54 0 0 0 0 ALPPL2 251 broad.mit.edu 37 2 233274348 233274348 + Silent SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr2:233274348C>T uc002vss.3 + 11 1418 c.1365C>T c.(1363-1365)GAC>GAT p.D455D NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 455 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CAGGCGAGGACGTGGCGGTGT 0.662 NA 5 18 0 0 0 0 C20orf79 140856 broad.mit.edu 37 20 18794599 18794599 + Missense_Mutation SNP T T A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr20:18794599T>A uc002wrk.2 + 1 230 c.140T>A c.(139-141)GTG>GAG p.V47E uc002wrj.1_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN hypothetical protein LOC140856 47 SCP2. sterol binding skin(3) 3 AGCTTCCCAGTGTTTCAGGAC 0.507 NA 22 40 0 0 0 0 NFS1 9054 broad.mit.edu 37 20 34285652 34285652 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr20:34285652T>C uc002xdw.1 - 3 342 c.278A>G c.(277-279)CAT>CGT p.H93R NFS1_uc002xdt.1_Missense_Mutation_p.H33R|NFS1_uc002xdu.1_Missense_Mutation_p.H33R|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Missense_Mutation_p.H93R|NFS1_uc002xdx.2_Missense_Mutation_p.H93R|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank NM_021100 NP_066923 Q9Y697 NFS1_HUMAN NFS1 nitrogen fixation 1 precursor 93 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GCCATAAGCATGTGTCCGGGA 0.527 NA 8 43 0 0 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353864 45353864 + Silent SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr20:45353864G>T uc002xsl.2 + 2 286 c.189G>T c.(187-189)CTG>CTT p.L63L NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 63 Helical; Name=2; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TCGCCTCCCTGGTTGGTGGCT 0.632 NA 15 41 6.32e-08 7.31e-08 1 0 PRPF6 24148 broad.mit.edu 37 20 62631012 62631012 + Missense_Mutation SNP A A C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr20:62631012A>C uc002yho.2 + 8 1091 c.923A>C c.(922-924)CAC>CCC p.H308P PRPF6_uc002yhp.2_Missense_Mutation_p.H308P NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 308 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) AACCCTCATCACCCGCCAGCC 0.567 NA 6 60 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 11012916 11012916 + Splice_Site SNP C C A rs4041777 TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr21:11012916C>A uc002yis.1 - 9 c.1704_splice c.e9+1 P56180 TPTE_HUMAN Homo sapiens putative tyrosine phosphatase mRNA, complete cds. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAAATTTTACCTAGCTTTTT 0.299 NA 10 17 0.000673444 0.000727062 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28302210 28302210 + Missense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr21:28302210C>G uc002ymg.2 - 7 2949 c.2220G>C c.(2218-2220)AAG>AAC p.K740N NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 740 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 ATTACCTTTTCTTATTAAAGG 0.383 NA 5 69 0 0 0 0 LGALS1 3956 broad.mit.edu 37 22 38075659 38075659 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr22:38075659G>T uc003atn.2 + 4 408 c.311G>T c.(310-312)GGA>GTA p.G104V NM_002305 NP_002296 P09382 LEG1_HUMAN galectin-1 104 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity 0 Melanoma(58;0.0574) CTGCCAGATGGATACGAATTC 0.562 NA 18 82 2.58e-16 3.15e-16 1 0 ATXN10 25814 broad.mit.edu 37 22 46088932 46088932 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr22:46088932G>A uc003bgm.1 + 3 622 c.365G>A c.(364-366)CGA>CAA p.R122Q ATXN10_uc011aqt.1_Missense_Mutation_p.R58Q|ATXN10_uc003bgn.1_5'UTR NM_013236 NP_037368 Q9UBB4 ATX10_HUMAN ataxin 10 122 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm ovary(1)|kidney(1) 2 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) CGTGAACTGCGAGTGGAACAG 0.308 NA 9 61 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653801 46653801 + Silent SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr22:46653801G>A uc003bhh.2 - 1 5419 c.5419C>T c.(5419-5421)CTA>TTA p.L1807L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1807 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCGGCAGGTAGACACATTTTT 0.403 NA 30 254 0 0 0 0 CELSR1 9620 broad.mit.edu 37 22 46760506 46760506 + Silent SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr22:46760506G>A uc003bhw.1 - 33 8682 c.8682C>T c.(8680-8682)CGC>CGT p.R2894R NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2894 Cytoplasmic (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCTGCTCCTCGCGGTGCAGCT 0.692 NA 16 64 0 0 0 0 BRD1 23774 broad.mit.edu 37 22 50216800 50216800 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr22:50216800G>A uc003biv.2 - 1 1653 c.1166C>T c.(1165-1167)ACG>ATG p.T389M BRD1_uc011arf.1_Translation_Start_Site|BRD1_uc011arg.1_Missense_Mutation_p.T389M|BRD1_uc011arh.1_Missense_Mutation_p.T389M|BRD1_uc003biu.3_Missense_Mutation_p.T389M NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 389 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCCTGGAGGCGTGTGGACATC 0.542 NA 19 180 0 0 0 0 SELK 58515 broad.mit.edu 37 3 53919910 53919910 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:53919910C>T uc011bet.1 - 4 398 c.224G>A c.(223-225)GGT>GAT p.G75D NM_021237 NP_067060 Q9Y6D0 SELK_HUMAN selenoprotein K 75 response to oxidative stress endoplasmic reticulum 0 BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113) ATTGATTCTACCCATTCTTCG 0.408 NA 4 3 0 0 0 0 DZIP3 9666 broad.mit.edu 37 3 108344785 108344785 + Nonsense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:108344785G>T uc003dxd.2 + 7 972 c.550G>T c.(550-552)GGA>TGA p.G184* DZIP3_uc003dxf.1_Nonsense_Mutation_p.G184*|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Nonsense_Mutation_p.G184* NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 184 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AGTTTATTTTGGACGTGGTTT 0.353 NA 21 125 8.1e-08 9.35e-08 1 0 ZDHHC23 254887 broad.mit.edu 37 3 113672564 113672564 + Missense_Mutation SNP C C A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:113672564C>A uc003eau.2 + 3 478 c.179C>A c.(178-180)TCT>TAT p.S60Y ZDHHC23_uc003eav.2_Missense_Mutation_p.S54Y NM_173570 NP_775841 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC domain containing 23 60 integral to membrane acyltransferase activity|zinc ion binding ovary(2) 2 ACATGTAAATCTTTACAGCCA 0.403 NA 17 72 1.45e-14 1.75e-14 1 0 POLQ 10721 broad.mit.edu 37 3 121186390 121186390 + Nonsense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:121186390G>A uc003eee.3 - 24 7072 c.6943C>T c.(6943-6945)CGA>TGA p.R2315* POLQ_uc003eed.2_Nonsense_Mutation_p.R1487* NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2315 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAGGCATGTCGCATGCTAATT 0.443 NA DNA_polymerases_(catalytic_subunits) 20 48 0 0 0 0 ADCY5 111 broad.mit.edu 37 3 123003507 123003507 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:123003507C>T uc003egh.1 - 21 3734 c.3734G>A c.(3733-3735)GGC>GAC p.G1245D ADCY5_uc003egg.1_Missense_Mutation_p.G903D NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 1245 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CTCGCCTTTGCCCTTGACCTT 0.612 NA 5 288 0 0 0 0 ABTB1 80325 broad.mit.edu 37 3 127395182 127395182 + Missense_Mutation SNP C C T rs149260862 TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:127395182C>T uc003ejt.2 + 5 476 c.388C>T c.(388-390)CGC>TGC p.R130C ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.R105C|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank NM_172027 NP_742024 Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 130 BTB 1. cytoplasm|nucleolus|plasma membrane translation elongation factor activity 0 CCGGGTGCATCGCTGCGTCCT 0.572 NA 22 138 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130380658 130380658 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:130380658C>T uc010htl.2 + 34 6039 c.6008C>T c.(6007-6009)ACT>ATT p.T2003I COL6A6_uc003eni.3_Missense_Mutation_p.T102I NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 2003 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GAGCCGGAGACTTCTGTCACT 0.517 NA 10 38 0 0 0 0 HPS3 84343 broad.mit.edu 37 3 148880100 148880100 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:148880100G>C uc003ewu.1 + 12 2412 c.2272G>C c.(2272-2274)GAA>CAA p.E758Q HPS3_uc011bnq.1_Missense_Mutation_p.E593Q|HPS3_uc003ewv.1_RNA NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 758 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TGGAATTGAAGAAGCAGATTC 0.423 NA Hermansky-Pudlak_syndrome 7 89 0 0 0 0 SHOX2 6474 broad.mit.edu 37 3 157820503 157820503 + Silent SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:157820503C>T uc003fbr.2 - 2 658 c.519G>A c.(517-519)CTG>CTA p.L173L SHOX2_uc003fbs.2_Silent_p.L197L|SHOX2_uc010hvw.2_Silent_p.L173L NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 173 Homeobox. nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GTCGCTGGCTCAGTTCCTCTC 0.607 NA 6 94 0 0 0 0 MAGEF1 64110 broad.mit.edu 37 3 184429482 184429482 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:184429482G>A uc003fpa.2 - 1 355 c.128C>T c.(127-129)GCC>GTC p.A43V NM_022149 NP_071432 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 43 ovary(1) 1 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) CTCCCTCCCGGCGCCAAGCTC 0.751 NA 7 49 0 0 0 0 UBXN7 26043 broad.mit.edu 37 3 196089387 196089387 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr3:196089387C>T uc003fwm.3 - 9 1081 c.1006G>A c.(1006-1008)GAT>AAT p.D336N UBXN7_uc003fwn.3_Missense_Mutation_p.D188N|UBXN7_uc010iae.2_Missense_Mutation_p.D174N NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 336 protein binding ovary(2)|pancreas(1) 3 TCTTCTTCATCAGAGCCACAA 0.443 NA 19 148 0 0 0 0 DHX15 1665 broad.mit.edu 37 4 24529592 24529592 + Silent SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr4:24529592G>A uc003gqx.2 - 14 2511 c.2343C>T c.(2341-2343)GAC>GAT p.D781D DHX15_uc003gqv.2_Silent_p.D187D|DHX15_uc003gqw.2_Silent_p.D204D NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 781 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) CAATGATGCGGTCCAACTGTC 0.393 NA 15 23 0 0 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73156643 73156643 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr4:73156643G>T uc003hgk.1 - 20 2897 c.2860C>A c.(2860-2862)CGT>AGT p.R954S NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 954 TSP type-1 3. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTCTCGGGACGGTCACCCATG 0.572 NA 23 24 1.56e-14 1.87e-14 1 0 FAT1 2195 broad.mit.edu 37 4 187539227 187539227 + Nonsense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr4:187539227G>T uc003izf.2 - 10 8701 c.8513C>A c.(8512-8514)TCA>TAA p.S2838* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2838 Extracellular (Potential).|Cadherin 26. 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 GTTGGTTCCTGAGTCAGCATC 0.448 NA HNSCC(5;0.00058) 26 33 1.38e-23 1.7e-23 1 0 SLC9A3 6550 broad.mit.edu 37 5 484690 484690 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:484690T>C uc003jbe.2 - 5 989 c.877A>G c.(877-879)ATC>GTC p.I293V SLC9A3_uc011clx.1_Missense_Mutation_p.I293V NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 293 Helical; Name=I/M7; (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGGTAGGAGATGATGAACACG 0.642 NA 7 45 0 0 0 0 IRX1 79192 broad.mit.edu 37 5 3599777 3599777 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:3599777G>T uc003jde.2 + 2 767 c.715G>T c.(715-717)GAC>TAC p.D239Y NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 239 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 GCACGATGGCGACCAGAGCAA 0.662 NA 13 28 6.32e-08 7.31e-08 1 0 CDH18 1016 broad.mit.edu 37 5 19483429 19483429 + Silent SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:19483429G>A uc003jgc.2 - 11 2240 c.1863C>T c.(1861-1863)CTC>CTT p.L621L CDH18_uc003jgd.2_Silent_p.L621L|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 621 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGAGAACACAGAGAAGAATAG 0.463 NA 11 21 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23510095 23510095 + Missense_Mutation SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:23510095A>G uc003jgo.2 + 4 442 c.260A>G c.(259-261)GAC>GGC p.D87G NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 87 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CAGGTGGATGACACAGAAGAT 0.383 NA HNSCC(3;0.000094) 7 37 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24537631 24537631 + Silent SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:24537631G>A uc003jgr.1 - 3 716 c.384C>T c.(382-384)CGC>CGT p.R128R CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 128 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TAGCTTGTGCGCGTAGAGTAT 0.413 NA HNSCC(23;0.051) 28 59 0 0 0 0 MRPS30 10884 broad.mit.edu 37 5 44811123 44811123 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:44811123C>T uc003joh.2 + 2 652 c.614C>T c.(613-615)CCA>CTA p.P205L MRPS30_uc003joi.1_RNA NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 205 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) TATAGATGCCCAGTTCATTTT 0.333 NA 4 48 0 0 0 0 PRR16 51334 broad.mit.edu 37 5 120021745 120021745 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:120021745G>T uc003ksq.2 + 2 419 c.256G>T c.(256-258)GGC>TGC p.G86C PRR16_uc003ksp.2_Missense_Mutation_p.G63C|PRR16_uc003ksr.2_Missense_Mutation_p.G16C NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 86 pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TAGCTCAAGTGGCACAACAGC 0.522 NA 5 36 1.24e-05 1.4e-05 1 0 PCDHAC1 56135 broad.mit.edu 37 5 140307589 140307589 + Missense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:140307589C>G uc003lih.2 + 1 1288 c.1112C>G c.(1111-1113)TCT>TGT p.S371C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.S371C NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 371 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCTCGATTCTAATGGTAGG 0.522 NA 15 22 0 0 0 0 GRIA1 2890 broad.mit.edu 37 5 153026599 153026599 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr5:153026599C>T uc003lva.3 + 3 697 c.332C>T c.(331-333)CCG>CTG p.P111L GRIA1_uc003luy.3_Missense_Mutation_p.P111L|GRIA1_uc003luz.3_Missense_Mutation_p.P16L|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Missense_Mutation_p.P42L|GRIA1_uc011dcy.1_Missense_Mutation_p.P121L|GRIA1_uc011dcz.1_Missense_Mutation_p.P121L|GRIA1_uc010jia.1_Missense_Mutation_p.P91L NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 111 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTCATTACGCCGAGCTTTCCC 0.493 NA 6 72 0 0 0 0 CAGE1 285782 broad.mit.edu 37 6 7370283 7370283 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:7370283G>A uc003mxi.2 - 5 2075 c.1354C>T c.(1354-1356)CAT>TAT p.H452Y CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.H343Y|CAGE1_uc003mxk.1_Missense_Mutation_p.H343Y NM_205864 NP_995586 Q8TC20 CAGE1_HUMAN cancer antigen 1 588 0 Ovarian(93;0.0418) AGATTAGAATGTGTCGTTTTT 0.383 NA 5 25 0 0 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056533 26056533 + Missense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:26056533C>G uc003nfw.2 - 1 167 c.124G>C c.(124-126)GAG>CAG p.E42Q NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 42 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 GTGATGAGCTCTGACACCGGG 0.612 NA 10 90 0 0 0 0 OR5V1 81696 broad.mit.edu 37 6 29323824 29323824 + Missense_Mutation SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:29323824A>G uc011dlo.1 - 1 231 c.149T>C c.(148-150)GTG>GCG p.V50A NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 TGGATCAGTCACAGTCGTCAA 0.388 NA 20 125 0 0 0 0 NOTCH4 4855 broad.mit.edu 37 6 32171962 32171962 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:32171962G>T uc003obb.2 - 19 3209 c.3070C>A c.(3070-3072)CAC>AAC p.H1024N NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1024 Extracellular (Potential).|EGF-like 26. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GCCAGAGAGTGGCAGGCTGCA 0.627 NA 4 25 0.00024832 0.000270677 1 0 TRERF1 55809 broad.mit.edu 37 6 42231078 42231078 + Missense_Mutation SNP C C A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:42231078C>A uc003osd.2 - 8 2427 c.1864G>T c.(1864-1866)GAC>TAC p.D622Y TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.D622Y NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 622 Pro-rich.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ATCTCGTCGTCCGACATCGAG 0.667 NA 8 79 0.000274275 0.00029801 1 0 CNR1 1268 broad.mit.edu 37 6 88854382 88854382 + Silent SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:88854382C>T uc011dzq.1 - 2 4175 c.612G>A c.(610-612)GTG>GTA p.V204V CNR1_uc010kbz.2_Silent_p.V204V|CNR1_uc011dzr.1_Silent_p.V204V|CNR1_uc011dzs.1_Silent_p.V204V|CNR1_uc003pmq.3_Silent_p.V204V|CNR1_uc011dzt.1_Silent_p.V204V|CNR1_uc010kca.2_Silent_p.V171V NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 204 Helical; Name=3; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ACAGGCTGCCCACGGAGGCAG 0.557 NA 3 30 0 0 0 0 MAN1A1 4121 broad.mit.edu 37 6 119510904 119510904 + Missense_Mutation SNP C C T rs117089274 byFrequency TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:119510904C>T uc003pym.1 - 10 1913 c.1471G>A c.(1471-1473)GAA>AAA p.E491K NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 491 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.E491K(1) ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GCCATGCCTTCGGGAGCTGCA 0.522 NA 11 85 0 0 0 0 C6orf97 80129 broad.mit.edu 37 6 151859254 151859254 + Nonsense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:151859254C>G uc003qol.2 + 3 350 c.261C>G c.(259-261)TAC>TAG p.Y87* NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 87 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) TGGAGAGCTACAAGGAAAACA 0.388 NA 7 46 0 0 0 0 C6orf97 80129 broad.mit.edu 37 6 151936746 151936746 + Nonsense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr6:151936746G>T uc003qol.2 + 10 1968 c.1879G>T c.(1879-1881)GAA>TAA p.E627* NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 627 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AAACATGATAGAAGTGGTAAC 0.403 NA 37 82 2.87e-16 3.49e-16 1 0 GPNMB 10457 broad.mit.edu 37 7 23286502 23286502 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr7:23286502G>A uc003swc.2 + 1 187 c.26G>A c.(25-27)GGA>GAA p.G9E GPNMB_uc003swa.2_Missense_Mutation_p.G9E|GPNMB_uc003swb.2_Missense_Mutation_p.G9E|GPNMB_uc011jyy.1_Missense_Mutation_p.G9E|GPNMB_uc011jyz.1_Missense_Mutation_p.G9E NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 9 negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) TATTTCCTGGGATTTCTGCTC 0.478 NA 28 51 0 0 0 0 HOXA7 3204 broad.mit.edu 37 7 27194647 27194647 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr7:27194647C>T uc003sys.2 - 2 706 c.574G>A c.(574-576)GAA>AAA p.E192K HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR NM_006896 NP_008827 P31268 HXA7_HUMAN homeobox A7 192 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding 0 GTCGGACCTTCGTCCTTATGC 0.537 NA 11 120 0 0 0 0 RNF148 378925 broad.mit.edu 37 7 122341901 122341901 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr7:122341901T>C uc003vkk.1 - 1 1121 c.904A>G c.(904-906)ATC>GTC p.I302V CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 302 integral to membrane zinc ion binding 0 GTTTTCAGGATGTCACACTTG 0.358 NA 7 106 0 0 0 0 FLNC 2318 broad.mit.edu 37 7 128489488 128489488 + Silent SNP G G A rs57797061 by1000genomes TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr7:128489488G>A uc003vnz.3 + 30 5264 c.5055G>A c.(5053-5055)CCG>CCA p.P1685P FLNC_uc003voa.3_Silent_p.P1685P NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1685 Filamin 15. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TGTCCACGCCGGATGGGGCAG 0.607 NA 3 53 0 0 0 0 COPS5 10987 broad.mit.edu 37 8 67958147 67958147 + Missense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr8:67958147C>G uc003xxe.2 - 7 1151 c.820G>C c.(820-822)GAG>CAG p.E274Q COPS5_uc003xxd.2_Missense_Mutation_p.E210Q|COPS5_uc003xxf.2_Missense_Mutation_p.E319Q|COPS5_uc010lyu.1_RNA NM_006837 NP_006828 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 274 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity ovary(1)|skin(1) 2 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) TCTGACTGCTCTAACTTTTCA 0.438 NA 6 89 0 0 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744677 70744677 + Missense_Mutation SNP G G C rs146746403 TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr8:70744677G>C uc003xyl.2 - 2 939 c.232C>G c.(232-234)CCG>GCG p.P78A SLCO5A1_uc010lzb.2_Missense_Mutation_p.P78A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.P78A|SLCO5A1_uc010lzc.2_Missense_Mutation_p.P78A NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 78 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GGGGCCAACGGGTTCGGGCCT 0.647 NA OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 43 0 0 0 0 CTHRC1 115908 broad.mit.edu 37 8 104394752 104394752 + Nonsense_Mutation SNP C C G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr8:104394752C>G uc003ylk.2 + 4 755 c.656C>G c.(655-657)TCA>TGA p.S219* NM_138455 NP_612464 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 219 collagen ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) GGTACTTGTTCAGATTACCCA 0.373 NA 13 158 0 0 0 0 RECQL4 9401 broad.mit.edu 37 8 145740836 145740836 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr8:145740836C>T uc003zdj.2 - 7 1296 c.1264G>A c.(1264-1266)GAG>AAG p.E422K LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 422 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GTGTCTTCCTCACTTGCTGGG 0.612 NA N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 7 85 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971096 21971096 + Nonsense_Mutation SNP C C A rs121913384 TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr9:21971096C>A uc003zpk.2 - 2 474 c.262G>T c.(262-264)GAG>TAG p.E88* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G143V NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 88 ANK 3. E -> D (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.E88*(13)|p.E88E(6)|p.E88K(3)|p.H83fs*2(2)|p.E88D(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.E87K(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGGAAGCCCTCCCGGGCAGCG 0.756 E88*(CAL33_UPPER_AERODIGESTIVE_TRACT) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 11 8.13e-05 9.09e-05 1 0 PRUNE2 158471 broad.mit.edu 37 9 79324742 79324742 + Nonsense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr9:79324742C>T uc010mpk.2 - 8 2572 c.2448G>A c.(2446-2448)TGG>TGA p.W816* NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 816 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GGTGCAAATTCCAGGTATTTT 0.468 NA 8 29 0 0 0 0 C9orf79 286234 broad.mit.edu 37 9 90502130 90502130 + Missense_Mutation SNP A A G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr9:90502130A>G uc004app.3 + 4 2763 c.2728A>G c.(2728-2730)AGC>GGC p.S910G C9orf79_uc004apo.1_Missense_Mutation_p.S722G NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 910 integral to membrane ovary(3) 3 CAGAACAACAAGCAAGTCAGT 0.602 NA 4 49 0 0 0 0 PTCH1 5727 broad.mit.edu 37 9 98239831 98239831 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr9:98239831G>C uc004avk.3 - 10 1689 c.1501C>G c.(1501-1503)CAG>GAG p.Q501E PTCH1_uc010mro.2_Missense_Mutation_p.Q350E|PTCH1_uc010mrp.2_Missense_Mutation_p.Q350E|PTCH1_uc010mrq.2_Missense_Mutation_p.Q350E|PTCH1_uc004avl.3_Missense_Mutation_p.Q350E|PTCH1_uc010mrr.2_Missense_Mutation_p.Q435E|PTCH1_uc004avm.3_Missense_Mutation_p.Q500E|PTCH1_uc010mrs.1_Intron NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 501 Extracellular (Potential).|SSD. embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TTTAGTACCTGAGTTGTTGCA 0.582 NA Basal_Cell_Nevus_syndrome 6 35 0 0 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069195 6069195 + Missense_Mutation SNP G G T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chrX:6069195G>T uc010ndh.2 - 2 814 c.313C>A c.(313-315)CAG>AAG p.Q105K NLGN4X_uc004crp.2_Missense_Mutation_p.Q105K|NLGN4X_uc004crq.2_Missense_Mutation_p.Q105K|NLGN4X_uc010ndi.2_Missense_Mutation_p.Q105K|NLGN4X_uc004crr.2_Missense_Mutation_p.Q105K|NLGN4X_uc010ndj.2_Missense_Mutation_p.Q105K NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 105 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GCAGCAAACTGAGTAGTATTT 0.557 NA 11 31 2.81e-09 3.33e-09 1 0 GRPR 2925 broad.mit.edu 37 X 16142365 16142365 + Missense_Mutation SNP G G A TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chrX:16142365G>A uc004cxj.2 + 1 942 c.289G>A c.(289-291)GAT>AAT p.D97N NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 97 Extracellular (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) TGCTCCAGTGGATGCCAGCAG 0.502 NA OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 27 0 0 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104993010 104993010 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chrX:104993010T>C uc004elz.1 + 9 1862 c.1106T>C c.(1105-1107)GTA>GCA p.V369A NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 369 Helical; (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 CTCCTCCTTGTACTGCTGGTG 0.413 NA 6 44 0 0 0 0 GPR101 83550 broad.mit.edu 37 X 136113430 136113430 + Missense_Mutation SNP T T C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chrX:136113430T>C uc011mwh.1 - 1 404 c.404A>G c.(403-405)CAC>CGC p.H135R NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 135 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GGAGAGAGGGTGGATGATGGA 0.592 NA 7 12 0 0 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906200 144906200 + Missense_Mutation SNP G G C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chrX:144906200G>C uc004fcd.2 + 5 3247 c.2257G>C c.(2257-2259)GAG>CAG p.E753Q SLITRK2_uc010nsp.2_Missense_Mutation_p.E753Q|SLITRK2_uc010nso.2_Missense_Mutation_p.E753Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.E753Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.E753Q|SLITRK2_uc011mws.1_Missense_Mutation_p.E753Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.E753Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.E753Q|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 753 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AAGAGAGCCTGAGCTGCTGTA 0.488 NA 13 98 0 0 0 0 TEX19 400629 broad.mit.edu 37 17 80320301 80320302 + Frame_Shift_Ins INS - - G TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr17:80320301_80320302insG uc002keq.2 + 2 584_585 c.275_276insG c.(274-276)CAGfs p.Q92fs NM_207459 NP_997342 Q8NA77 TEX19_HUMAN testis expressed 19 92 nucleus 0 CAGCCTGTGCAGGGGGGCTCTG 0.649 NA 12 81 --- --- --- --- NA NA NA NA PPP4R1 9989 broad.mit.edu 37 18 9559423 9559424 + Frame_Shift_Ins INS - - T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr18:9559423_9559424insT uc002koe.1 - 14 2139_2140 c.2021_2022insA c.(2020-2022)GACfs p.D674fs PPP4R1_uc002kof.2_Frame_Shift_Ins_p.D91fs|PPP4R1_uc010wzo.1_Frame_Shift_Ins_p.D520fs|PPP4R1_uc002kod.1_Frame_Shift_Ins_p.D657fs|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 674 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 TCACCTGCATGTCTGAGGCCAG 0.46 NA 146 161 --- --- --- --- NA NA NA NA UBA52 7311 broad.mit.edu 37 19 18685943 18685945 + In_Frame_Del DEL AAG AAG - TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:18685943_18685945delAAG uc002njr.2 + 5 484_486 c.370_372delAAG c.(370-372)AAGdel p.K126del UBA52_uc002njs.2_In_Frame_Del_p.K126del|UBA52_uc002njt.2_In_Frame_Del_p.K126del NM_001033930 NP_001029102 P62987 RL40_HUMAN ubiquitin and ribosomal protein L40 precursor 126 activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome 0 CCTGCGTCCCAAGAAGAAGGTCA 0.567 NA 9 58 --- --- --- --- NA NA NA NA ACPT 93650 broad.mit.edu 37 19 51298400 51298401 + Frame_Shift_Del DEL GG GG - TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr19:51298400_51298401delGG uc002pta.1 + 11 1266_1267 c.1266_1267delGG c.(1264-1269)TTGGGGfs p.L422fs NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 422_423 Cytoplasmic (Potential). integral to membrane acid phosphatase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TGCGGGCCTTGGGGGGCCCCGT 0.649 NA 2 4 --- --- --- --- NA NA NA NA MORC3 23515 broad.mit.edu 37 21 37741775 37741775 + Frame_Shift_Del DEL A A - TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr21:37741775delA uc002yvi.2 + 15 2185 c.2109delA c.(2107-2109)CTAfs p.L703fs NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 703 Potential. cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 GAAACCAGCTACTCCTTGTCA 0.388 NA 35 34 --- --- --- --- NA NA NA NA SRRT 51593 broad.mit.edu 37 7 100473251 100473274 + In_Frame_Del DEL GACAAGTTCAGAAGAGAGCGCAGC GACAAGTTCAGAAGAGAGCGCAGC - TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c5d99faa-ef68-4f08-af97-d722bcc383f5 ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC uc003uwy.2 + 3 308_331 c.40_63delGACAAGTTCAGAAGAGAGCGCAGC c.(40-63)GACAAGTTCAGAAGAGAGCGCAGCdel p.DKFRRERS14del SRRT_uc010lhl.1_In_Frame_Del_p.DKFRRERS14del|SRRT_uc003uxa.2_In_Frame_Del_p.DKFRRERS14del|SRRT_uc003uwz.2_In_Frame_Del_p.DKFRRERS14del NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 14_21 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 AAGGCGCAGGGACAAGTTCAGAAGAGAGCGCAGCGACTACGACC 0.58 NA 32 93 --- --- --- --- NA NA NA NA