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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut GNB1 2782 broad.mit.edu 37 1 1721961 1721961 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:1721961G>C uc001aif.2 - 9 904 c.572C>G c.(571-573)TCT>TGT p.S191C GNB1_uc009vky.2_Missense_Mutation_p.S91C NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 191 WD 4. cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) AGGAGCAAGAGAAAGGCTCAT 0.577 NA 6 53 0 0 0.001984 0 0 IL22RA1 58985 broad.mit.edu 37 1 24449853 24449853 + Missense_Mutation SNP G G T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:24449853G>T uc001biq.1 - 6 770 c.731C>A c.(730-732)GCA>GAA p.A244E IL22RA1_uc010oeg.1_Missense_Mutation_p.A176E|IL22RA1_uc009vrb.1_Missense_Mutation_p.A108E|IL22RA1_uc010oeh.1_Missense_Mutation_p.A244E NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 244 Helical; (Potential). integral to membrane interferon receptor activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GCAGAGTACTGCGACGAGGAA 0.612 NA 22 18 1.10923e-09 1.18062e-09 0.00278 1 0 SLFNL1 200172 broad.mit.edu 37 1 41483474 41483474 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:41483474C>T uc001cgm.1 - 3 1010 c.790G>A c.(790-792)GAC>AAC p.D264N SLFNL1_uc009vwf.1_Missense_Mutation_p.D264N|SLFNL1_uc001cgn.1_Missense_Mutation_p.D205N|SLFNL1_uc009vwg.1_Missense_Mutation_p.D264N NM_144990 NP_659427 Q499Z3 SLNL1_HUMAN schlafen-like 1 264 ATP (Potential). ATP binding skin(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) AGGCCGCTGTCCTCTACTCCC 0.662 NA 14 57 0 0 0.003163 0 0 SLFNL1 200172 broad.mit.edu 37 1 41483477 41483477 + Nonsense_Mutation SNP C C A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:41483477C>A uc001cgm.1 - 3 1007 c.787G>T c.(787-789)GAG>TAG p.E263* SLFNL1_uc009vwf.1_Nonsense_Mutation_p.E263*|SLFNL1_uc001cgn.1_Nonsense_Mutation_p.E204*|SLFNL1_uc009vwg.1_Nonsense_Mutation_p.E263* NM_144990 NP_659427 Q499Z3 SLNL1_HUMAN schlafen-like 1 263 ATP (Potential). ATP binding skin(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) CCGCTGTCCTCTACTCCCACG 0.672 NA 14 58 2.32078e-09 2.45797e-09 0.003163 1 0 SLFNL1 200172 broad.mit.edu 37 1 41486212 41486212 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:41486212C>G uc001cgm.1 - 2 341 c.121G>C c.(121-123)GAG>CAG p.E41Q SLFNL1_uc009vwf.1_Missense_Mutation_p.E41Q|SLFNL1_uc001cgn.1_Missense_Mutation_p.E41Q|SLFNL1_uc009vwg.1_Missense_Mutation_p.E41Q NM_144990 NP_659427 Q499Z3 SLNL1_HUMAN schlafen-like 1 41 ATP binding skin(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) GGAGCCTCCTCGAGGTCAGAG 0.632 NA 14 104 0 0 0.003163 0 0 SLFNL1 200172 broad.mit.edu 37 1 41486281 41486281 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:41486281C>T uc001cgm.1 - 2 272 c.52G>A c.(52-54)GAG>AAG p.E18K SLFNL1_uc009vwf.1_Missense_Mutation_p.E18K|SLFNL1_uc001cgn.1_Missense_Mutation_p.E18K|SLFNL1_uc009vwg.1_Missense_Mutation_p.E18K NM_144990 NP_659427 Q499Z3 SLNL1_HUMAN schlafen-like 1 18 ATP binding skin(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) CCCCAGGACTCCATGAAGGGC 0.607 NA 10 82 0 0 0.003163 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448792 89448792 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:89448792C>T uc009wcx.2 - 3 1434 c.718G>A c.(718-720)GAT>AAT p.D240N CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.D240N NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 240 nucleotide binding|RNA binding 0 TAAGTATAATCTCGTGGTGGT 0.428 NA 32 33 0 0 0.003755 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150131230 150131230 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:150131230G>C uc001ett.2 + 6 1020 c.742G>C c.(742-744)GAC>CAC p.D248H PLEKHO1_uc001etr.2_Missense_Mutation_p.D76H|PLEKHO1_uc001ets.2_Missense_Mutation_p.D65H|PLEKHO1_uc001etu.2_Missense_Mutation_p.D76H NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O 248 Interaction with ATM, CKIP, IFP35 and NMI. cytoplasm|nucleus|plasma membrane lung(1) 1 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GGAAAAAACAGACAAAGGGGC 0.647 NA 27 25 0 0 0.009535 0 0 FLG 2312 broad.mit.edu 37 1 152282561 152282561 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:152282561C>G uc001ezu.1 - 3 4837 c.4801G>C c.(4801-4803)GAG>CAG p.E1601Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1601 Ser-rich.|Filaggrin 9. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTGTCCCTCACTGTCCCTG 0.592 NA Ichthyosis 50 182 0 0 0.01441 0 0 ASH1L 55870 broad.mit.edu 37 1 155385641 155385641 + Missense_Mutation SNP A A C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:155385641A>C uc009wqq.2 - 6 6382 c.5902T>G c.(5902-5904)TTG>GTG p.L1968V ASH1L_uc001fkt.2_Missense_Mutation_p.L1968V NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1968 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACAGGCTGCAAGGTACTTTCA 0.438 NA 15 73 0 0 0.004007 0 0 RXFP4 339403 broad.mit.edu 37 1 155912577 155912577 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:155912577C>T uc010pgs.1 + 1 1098 c.1077C>T c.(1075-1077)AGC>AGT p.S359S NM_181885 NP_871001 Q8TDU9 RL3R2_HUMAN relaxin 3 receptor 2 359 Cytoplasmic (Potential). integral to membrane|plasma membrane angiotensin type II receptor activity 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CCCGGGAGAGCCGCCCTTCTA 0.632 NA 3 56 0 0 0.000602 0 0 INTS7 25896 broad.mit.edu 37 1 212118198 212118198 + Silent SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:212118198G>C uc001hiw.1 - 19 2634 c.2529C>G c.(2527-2529)CTC>CTG p.L843L INTS7_uc009xdb.1_Silent_p.L823L|INTS7_uc001hix.1_Silent_p.L719L|INTS7_uc001hiy.1_Silent_p.L829L|INTS7_uc010pta.1_Silent_p.L794L NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 843 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TTTTGCGGAAGAGTCCTGGTT 0.478 NA 4 96 0 0 0.000602 0 0 ANKRD26 22852 broad.mit.edu 37 10 27328913 27328913 + Nonsense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:27328913G>A uc001ith.2 - 21 2525 c.2353C>T c.(2353-2355)CGA>TGA p.R785* ANKRD26_uc001itg.2_Nonsense_Mutation_p.R472*|ANKRD26_uc009xku.1_Nonsense_Mutation_p.R786* NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 785 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 CACAGTTCTCGTTCCCATTCA 0.299 NA 7 98 0 0 0.004482 0 0 MASTL 84930 broad.mit.edu 37 10 27448608 27448608 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:27448608G>A uc001itm.2 + 3 1024 c.385G>A c.(385-387)GAT>AAT p.D129N MASTL_uc001itl.2_Missense_Mutation_p.D129N|MASTL_uc009xkw.1_Missense_Mutation_p.D129N|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 129 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 TGGTTATTTTGATGAAGAGAT 0.338 NA 25 74 0 0 0.003954 0 0 PARD3 56288 broad.mit.edu 37 10 34663884 34663884 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:34663884G>A uc010qej.1 - 11 1586 c.1586C>T c.(1585-1587)TCG>TTG p.S529L PARD3_uc010qek.1_Missense_Mutation_p.S529L|PARD3_uc010qel.1_Missense_Mutation_p.S529L|PARD3_uc010qem.1_Missense_Mutation_p.S529L|PARD3_uc010qen.1_Missense_Mutation_p.S529L|PARD3_uc010qeo.1_Missense_Mutation_p.S529L|PARD3_uc010qep.1_Missense_Mutation_p.S485L|PARD3_uc010qeq.1_Missense_Mutation_p.S485L|PARD3_uc001ixo.1_Missense_Mutation_p.S259L|PARD3_uc001ixp.1_Missense_Mutation_p.S394L|PARD3_uc001ixq.1_Missense_Mutation_p.S529L|PARD3_uc001ixr.1_Missense_Mutation_p.S529L|PARD3_uc001ixt.1_Missense_Mutation_p.S350L|PARD3_uc001ixu.1_Missense_Mutation_p.S485L|PARD3_uc001ixs.1_Missense_Mutation_p.S182L NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 529 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) TCTCAACAGCGAAACAACTTC 0.428 NA 39 73 0 0 0.007835 0 0 FZD8 8325 broad.mit.edu 37 10 35928705 35928705 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:35928705G>A uc001iyz.1 - 1 1658 c.1653C>T c.(1651-1653)CTC>CTT p.L551L NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 551 Helical; Name=6; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 GCTCGTAGAAGAGGCAGGCGA 0.697 NA 5 30 0 0 0.001168 0 0 HERC4 26091 broad.mit.edu 37 10 69832647 69832647 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:69832647C>G uc001jng.3 - 3 530 c.219G>C c.(217-219)AAG>AAC p.K73N HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.K73N|HERC4_uc009xpr.2_Missense_Mutation_p.K73N|HERC4_uc001jni.3_5'UTR|HERC4_uc001jnj.2_Missense_Mutation_p.K73N|HERC4_uc001jnk.2_Missense_Mutation_p.K73N NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 73 RCC1 2. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 TACCTGGTTTCTTTCTGGATT 0.303 NA 4 81 0 0 0.000602 0 0 HK1 3098 broad.mit.edu 37 10 71158502 71158502 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:71158502G>C uc001jpl.3 + 17 2628 c.2527G>C c.(2527-2529)GAT>CAT p.D843H HK1_uc001jpg.3_Missense_Mutation_p.D831H|HK1_uc001jph.3_Missense_Mutation_p.D847H|HK1_uc001jpi.3_Missense_Mutation_p.D847H|HK1_uc001jpj.3_Missense_Mutation_p.D878H|HK1_uc001jpk.3_Missense_Mutation_p.D842H NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 843 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 TGCGGTTGTGGATAAGATCCG 0.582 NA 6 89 0 0 0.004482 0 0 HK1 3098 broad.mit.edu 37 10 71158543 71158543 + Silent SNP G G T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:71158543G>T uc001jpl.3 + 17 2669 c.2568G>T c.(2566-2568)GTG>GTT p.V856V HK1_uc001jpg.3_Silent_p.V844V|HK1_uc001jph.3_Silent_p.V860V|HK1_uc001jpi.3_Silent_p.V860V|HK1_uc001jpj.3_Silent_p.V891V|HK1_uc001jpk.3_Silent_p.V855V NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 856 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 GTCTGAATGTGACTGTGGGAG 0.607 NA 7 85 0.00307968 0.00313806 0.00308 1 0 HIF1AN 55662 broad.mit.edu 37 10 102304755 102304755 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:102304755C>G uc001krj.3 + 4 700 c.625C>G c.(625-627)CAG>GAG p.Q209E NM_017902 NP_060372 Q9NWT6 HIF1N_HUMAN hypoxia-inducible factor 1, alpha subunit 209 JmjC.|Interaction with HIF1A.|Interaction with VHL. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding 0 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) CTTTTTTGCTCAGATAAAAGG 0.448 NA 15 64 0 0 0.006122 0 0 TAF5 6877 broad.mit.edu 37 10 105145201 105145201 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:105145201C>G uc001kwv.2 + 8 1806 c.1783C>G c.(1783-1785)CCA>GCA p.P595A TAF5_uc010qqq.1_Intron NM_006951 NP_008882 Q15542 TAF5_HUMAN TBP-associated factor 5 595 WD 3. histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACAATTTTCTCCATATGGATA 0.413 NA 10 39 0 0 0.010729 0 0 C10orf81 79949 broad.mit.edu 37 10 115536935 115536935 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:115536935G>C uc001lat.1 + 11 1646 c.1084G>C c.(1084-1086)GAT>CAT p.D362H C10orf81_uc001lar.1_Intron|C10orf81_uc009xyc.1_Missense_Mutation_p.D280H|C10orf81_uc001las.1_Missense_Mutation_p.D280H|C10orf81_uc001lau.1_Missense_Mutation_p.D196H NM_024889 NP_079165 Q5SXH7 CJ081_HUMAN hypothetical protein LOC79949 376 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) TTGCCACGGAGATCATCTTCT 0.547 NA 5 29 0 0 0.000602 0 0 EBF3 253738 broad.mit.edu 37 10 131676071 131676071 + Missense_Mutation SNP C C A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:131676071C>A uc001lki.1 - 7 656 c.597G>T c.(595-597)TTG>TTT p.L199F NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 199 Interaction with DNA (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CTGCATTCTTCAAACAGTTCT 0.358 NA 15 34 3.99206e-14 4.29146e-14 0.007413 1 0 DPYSL4 10570 broad.mit.edu 37 10 134017270 134017270 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr10:134017270C>T uc009ybb.2 + 13 1620 c.1466C>T c.(1465-1467)GCG>GTG p.A489V NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 489 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CGGCAGCTGGCGGAGATCCAC 0.716 NA 21 29 0 0 0.004656 0 0 PHLDA2 7262 broad.mit.edu 37 11 2950336 2950336 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:2950336C>T uc001lxa.1 - 1 315 c.259G>A c.(259-261)GAG>AAG p.E87K NM_003311 NP_003302 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain family A member 87 PH. apoptosis cytoplasm|membrane 0 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCAGCTCTCGCCCGCGCAG 0.657 NA 11 29 0 0 0.013537 0 0 OR51L1 119682 broad.mit.edu 37 11 5020308 5020308 + Silent SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:5020308C>G uc010qyu.1 + 1 96 c.96C>G c.(94-96)CTC>CTG p.L32L NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCCATCCTCTTCTGTCTTG 0.423 NA 9 184 0 0 0.013537 0 0 FOLH1 2346 broad.mit.edu 37 11 49168488 49168488 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:49168488G>C uc001ngy.2 - 19 2334 c.2073C>G c.(2071-2073)ATC>ATG p.I691M FOLH1_uc001ngx.2_Missense_Mutation_p.S91C|FOLH1_uc001ngz.2_Missense_Mutation_p.I660M|FOLH1_uc009yly.2_Missense_Mutation_p.I676M|FOLH1_uc009ylz.2_Missense_Mutation_p.I645M|FOLH1_uc009yma.2_Missense_Mutation_p.I383M NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 691 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTGGAGCATAGATGACATGCC 0.423 NA 23 85 0 0 0.011902 0 0 OR4C15 81309 broad.mit.edu 37 11 55321913 55321913 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:55321913C>T uc010rig.1 + 1 131 c.131C>T c.(130-132)CCT>CTT p.P44L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, Error:Variant_position_missing_in_Q8NGM1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TACATGATCCCTGTTGGAGCT 0.378 NA HNSCC(20;0.049) 4 137 0 0 0.000602 0 0 OR8H3 390152 broad.mit.edu 37 11 55890191 55890191 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:55890191C>G uc001nii.1 + 1 343 c.343C>G c.(343-345)CTC>GTC p.L115V NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) ATGTTATCTTCTCTCCTCAAT 0.473 NA 48 230 0 0 0.01441 0 0 OR9G4 283189 broad.mit.edu 37 11 56510847 56510847 + Silent SNP A A G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:56510847A>G uc010rjo.1 - 1 441 c.441T>C c.(439-441)TAT>TAC p.Y147Y NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 147 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TGGTACCTGAATAAAGCAATG 0.488 NA 7 158 0 0 0.00308 0 0 C11orf84 144097 broad.mit.edu 37 11 63585793 63585793 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:63585793C>G uc001nxt.2 + 3 799 c.563C>G c.(562-564)CCT>CGT p.P188R NM_138471 NP_612480 Q9BUA3 CK084_HUMAN hypothetical protein LOC144097 188 Pro-rich. 0 CCATCCCTCCCTAAAAGGAGC 0.632 NA 4 87 0 0 0.001168 0 0 PYGM 5837 broad.mit.edu 37 11 64521147 64521147 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:64521147G>A uc001oax.3 - 11 2064 c.1247C>T c.(1246-1248)GCG>GTG p.A416V PYGM_uc001oay.3_Missense_Mutation_p.A328V NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 416 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) GAATGCGGCCGCCACCCGCTG 0.692 NA 7 20 0 0 0.006214 0 0 CAPN1 823 broad.mit.edu 37 11 64974124 64974124 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:64974124C>T uc009yqd.1 + 13 1655 c.1544C>T c.(1543-1545)TCA>TTA p.S515L CAPN1_uc001odf.1_Missense_Mutation_p.S515L|CAPN1_uc001odg.1_Missense_Mutation_p.S515L|CAPN1_uc010roa.1_Missense_Mutation_p.S256L NM_005186 NP_005177 P07384 CAN1_HUMAN calpain 1, large subunit 515 Domain III. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding ovary(1) 1 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CGCTTCTTCTCAGAGAAGAGT 0.647 NA 8 48 0 0 0.008291 0 0 CCDC87 55231 broad.mit.edu 37 11 66360198 66360198 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:66360198C>T uc001oiq.3 - 1 357 c.289G>A c.(289-291)GAG>AAG p.E97K CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 97 ovary(1)|skin(1) 2 GCGGGCGGCTCCCGCCAGCTG 0.632 NA OREG0021111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 62 0 0 0.001855 0 0 LRP5 4041 broad.mit.edu 37 11 68181430 68181430 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:68181430G>A uc001ont.2 + 12 2852 c.2777G>A c.(2776-2778)TGC>TAC p.C926Y LRP5_uc009ysg.2_Missense_Mutation_p.C336Y NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 926 EGF-like 3.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 GGCCACCGCTGCGGCTGCGCC 0.647 NA 9 36 0 0 0.004482 0 0 C2CD3 26005 broad.mit.edu 37 11 73803494 73803494 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:73803494C>T uc001ouu.2 - 19 3711 c.3484G>A c.(3484-3486)GAG>AAG p.E1162K NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1162 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TTCCTGTTCTCAATCCTGGGG 0.358 NA 34 101 0 0 0.009718 0 0 INTS4 92105 broad.mit.edu 37 11 77618802 77618802 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:77618802G>C uc001oys.2 - 16 2005 c.1977C>G c.(1975-1977)TTC>TTG p.F659L C11orf67_uc001oyp.2_Intron|INTS4_uc001oyt.2_RNA NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 659 snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) AGGTGGCAGAGAAATCAGCTA 0.408 NA 4 125 0 0 0.000602 0 0 ALG8 79053 broad.mit.edu 37 11 77823813 77823813 + Nonsense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:77823813G>A uc001oza.1 - 8 846 c.781C>T c.(781-783)CAG>TAG p.Q261* ALG8_uc001oyz.1_Nonsense_Mutation_p.Q261*|ALG8_uc009yux.1_Nonsense_Mutation_p.Q159* NM_024079 NP_076984 Q9BVK2 ALG8_HUMAN dolichyl pyrophosphate Glc1Man9GlcNAc2 261 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;9.66e-25) TGAGGCAGCTGATTCTGTTGA 0.393 NA 5 31 0 0 0.001984 0 0 CASP1 834 broad.mit.edu 37 11 104897032 104897032 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:104897032C>T uc010rve.1 - 9 1185 c.1168G>A c.(1168-1170)GAA>AAA p.E390K CASP1_uc001pig.2_Missense_Mutation_p.E297K|CASP1_uc001pik.2_Missense_Mutation_p.E353K|CASP1_uc010rvf.1_Missense_Mutation_p.E297K|CASP1_uc010rvg.1_Missense_Mutation_p.E369K|CASP1_uc010rvh.1_Missense_Mutation_p.E249K|CASP1_uc010rvi.1_Missense_Mutation_p.E74K|CASP1_uc001pim.3_Missense_Mutation_p.E390K|CASP1_uc009yxi.2_Missense_Mutation_p.E369K|CASP1_uc010rvj.1_Missense_Mutation_p.E390K NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 390 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) GTCACTCTTTCAGTGGTGGGC 0.423 NSCLC(41;1246 1743 4934) NA 12 75 0 0 0.00245 0 0 ROBO3 64221 broad.mit.edu 37 11 124744063 124744063 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:124744063C>T uc001qbc.2 + 12 2074 c.1882C>T c.(1882-1884)CTG>TTG p.L628L ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 628 Fibronectin type-III 1.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CTACCTGTTTCTGGTTCGAGC 0.602 NA 5 150 0 0 0.000602 0 0 APLP2 334 broad.mit.edu 37 11 129999975 129999975 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr11:129999975G>C uc010sby.1 + 11 1655 c.1498G>C c.(1498-1500)GAG>CAG p.E500Q APLP2_uc001qfp.2_Missense_Mutation_p.E500Q|APLP2_uc001qfq.2_Missense_Mutation_p.E444Q|APLP2_uc010sbz.1_Missense_Mutation_p.E288Q|APLP2_uc001qfr.2_Missense_Mutation_p.E266Q|APLP2_uc001qfs.2_Missense_Mutation_p.E271Q|APLP2_uc001qfv.2_Missense_Mutation_p.E391Q NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 500 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TGTCCGTGCTGAGAACAAAGA 0.468 NA 21 138 0 0 0.00278 0 0 H3F3C 440093 broad.mit.edu 37 12 31944812 31944812 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr12:31944812C>T uc001rkr.2 - 1 364 c.289G>A c.(289-291)GAA>AAA p.E97K NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN histone H3-like 97 nucleosome assembly nucleosome|nucleus DNA binding 0 AGGTACGCTTCGCTAGCCTCC 0.572 NA HNSCC(67;0.2) 8 100 0 0 0.006214 0 0 DNAJC14 85406 broad.mit.edu 37 12 56188646 56188646 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr12:56188646C>T uc001shu.1 - 11 2427 c.2371G>A c.(2371-2373)GAA>AAA p.E791K SARNP_uc009zoa.2_RNA|SARNP_uc001shs.3_RNA|SARNP_uc001sht.2_Missense_Mutation_p.E108K|SARNP_uc001shv.3_Missense_Mutation_p.E108K NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein Error:Variant_position_missing_in_Q6Y2X3_after_alignment protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 TTGAATCGTTCAGCCCTCTTC 0.418 NA 7 18 0 0 0.008291 0 0 DGKA 1606 broad.mit.edu 37 12 56346586 56346586 + Missense_Mutation SNP C C A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr12:56346586C>A uc001sij.2 + 21 2076 c.1812C>A c.(1810-1812)AGC>AGA p.S604R DGKA_uc009zod.1_Missense_Mutation_p.S523R|DGKA_uc001sik.2_Missense_Mutation_p.S604R|DGKA_uc001sil.2_Missense_Mutation_p.S604R|DGKA_uc001sim.2_Missense_Mutation_p.S604R|DGKA_uc001sin.2_Missense_Mutation_p.S604R|DGKA_uc009zof.2_Missense_Mutation_p.S250R|DGKA_uc001sio.2_Missense_Mutation_p.S346R NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 604 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) ACATCCCTAGCATGCATGGTG 0.552 NA 100 83 4.85316e-53 5.2966e-53 0.01441 1 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr12:57485446T>C uc001smz.2 + 2 1000 c.622T>C c.(622-624)TTC>CTC p.F208L NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 CTCGCCCCCCTTCTCCCCCCC 0.716 NA 5 10 0 0 0.001984 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72017964 72017964 + Nonsense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr12:72017964G>A uc001swo.2 - 23 4785 c.4426C>T c.(4426-4428)CAG>TAG p.Q1476* NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1476 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TCTAAAAGCTGAAAGGACAAA 0.408 NA 13 161 0 0 0.00245 0 0 PIWIL1 9271 broad.mit.edu 37 12 130827556 130827556 + Nonsense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr12:130827556C>T uc001uik.2 + 3 190 c.100C>T c.(100-102)CAG>TAG p.Q34* PIWIL1_uc001uij.1_Nonsense_Mutation_p.Q34* NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 34 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TGGTTATATTCAGCCTAGGCC 0.478 NA 17 42 0 0 0.012319 0 0 KBTBD6 89890 broad.mit.edu 37 13 41704658 41704658 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr13:41704658C>G uc001uxu.1 - 1 2279 c.1990G>C c.(1990-1992)GAT>CAT p.D664H KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.D598H|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 664 Kelch 6. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) AAATCATCATCAGAAAGAGAA 0.418 NA 14 22 0 0 0.00499 0 0 RNASE1 6035 broad.mit.edu 37 14 21269841 21269841 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr14:21269841C>T uc001vyf.2 - 2 563 c.387G>A c.(385-387)CCG>CCA p.P129P RNASE1_uc001vyg.2_Silent_p.P129P|RNASE1_uc001vyh.2_Silent_p.P129P|RNASE1_uc001vyi.2_Silent_p.P129P NM_198232 NP_937875 P07998 RNAS1_HUMAN pancreatic ribonuclease precursor 129 extracellular region nucleic acid binding|pancreatic ribonuclease activity|protein binding 0 all_cancers(95;0.00671) all_lung(585;0.235) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) GTCTCTCCTTCGGGCTGGTCC 0.562 NA 29 63 0 0 0.012213 0 0 FAM179B 23116 broad.mit.edu 37 14 45431675 45431675 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr14:45431675C>T uc001wvv.2 + 1 260 c.51C>T c.(49-51)CTC>CTT p.L17L FAM179B_uc001wvw.2_Silent_p.L17L|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.L17L|FAM179B_uc001wvu.2_Silent_p.L17L NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 17 binding skin(2)|upper_aerodigestive_tract(1) 3 TTCCAGTCCTCTCTACCTATC 0.582 NA 7 17 0 0 0.001984 0 0 ADCK1 57143 broad.mit.edu 37 14 78399726 78399726 + Missense_Mutation SNP C C G rs141850399 TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr14:78399726C>G uc001xui.2 + 11 1663 c.1564C>G c.(1564-1566)CCA>GCA p.P522A ADCK1_uc001xuj.2_Missense_Mutation_p.P454A|ADCK1_uc001xul.2_Missense_Mutation_p.P229A NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 529 extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) GTTCCCTGCTCCACTCTGAGT 0.557 NA 4 120 0 0 0.001168 0 0 TCL1A 8115 broad.mit.edu 37 14 96178093 96178093 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr14:96178093C>T uc001yfc.3 - 3 474 c.344G>A c.(343-345)TGA>TAA p.*115* TCL1A_uc001yfb.3_Silent_p.*115* NM_001098725 NP_001092195 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 115 multicellular organismal development endoplasmic reticulum|microsome lung(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CACCATACATCAGTCATCTGG 0.557 Ovarian(96;1068 2019 35393 39316) NA T TRA@ T-CLL 9 13 0 0 0.006214 0 0 TMEM87A 25963 broad.mit.edu 37 15 42510006 42510006 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:42510006C>T uc010udd.1 - 19 1780 c.1621G>A c.(1621-1623)GAT>AAT p.D541N NM_015497 NP_056312 Q8NBN3 TM87A_HUMAN transmembrane protein 87A isoform 1 541 integral to membrane ovary(1) 1 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) CCAACCTCATCTGAATCCAGA 0.343 NA 36 54 0 0 0.011902 0 0 UBR1 197131 broad.mit.edu 37 15 43328728 43328728 + Nonsense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:43328728G>A uc001zqq.2 - 18 2152 c.2086C>T c.(2086-2088)CAG>TAG p.Q696* UBR1_uc010udk.1_Nonsense_Mutation_p.Q696* NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 696 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ATAGGTACCTGAAGCATGATG 0.269 NA 36 74 0 0 0.007835 0 0 GNB5 10681 broad.mit.edu 37 15 52433340 52433340 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:52433340C>T uc002abt.1 - 7 689 c.624G>A c.(622-624)ATG>ATA p.M208I GNB5_uc002abr.1_Missense_Mutation_p.M166I|GNB5_uc002abs.1_Intron NM_016194 NP_057278 O14775 GBB5_HUMAN guanine nucleotide-binding protein, beta-5 208 WD 3. heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1) 1 all cancers(107;0.0163) TATTTACCTGCATGTCAGAGT 0.507 NA 15 64 0 0 0.00278 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64506298 64506298 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:64506298G>A uc002anf.2 - 6 950 c.470C>T c.(469-471)TCA>TTA p.S157L CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.S157L|CSNK1G1_uc002anh.1_Missense_Mutation_p.S157L|CSNK1G1_uc002anj.2_Missense_Mutation_p.S139L NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 157 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 GAGGTTCTTTGAGTGCACGTA 0.373 NA 31 118 0 0 0.007835 0 0 LMAN1L 79748 broad.mit.edu 37 15 75115958 75115958 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:75115958G>A uc002ayt.1 + 12 1260 c.1258G>A c.(1258-1260)GAG>AAG p.E420K LMAN1L_uc010bke.1_Missense_Mutation_p.E408K|CPLX3_uc002ayu.1_5'Flank NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 420 Lumenal (Potential). ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 TGTGGGCATTGAGCATCATTT 0.597 NA 17 62 0 0 0.007413 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562495 75562495 + Silent SNP G G T rs138154232 by1000genomes TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:75562495G>T uc002azs.1 + 18 2078 c.2001G>T c.(1999-2001)CCG>CCT p.P667P uc002azu.1_5'Flank|uc010ulz.1_5'Flank NM_001145224 NP_001138696 A6NDK9 GOG6C_HUMAN golgi autoantigen, golgin subfamily a, 6D 679 ovary(1) 1 ACAACCCCCCGGTACAGCAGA 0.602 NA 5 71 5.9392e-07 6.22892e-07 0.001168 1 0 IREB2 3658 broad.mit.edu 37 15 78777160 78777160 + Missense_Mutation SNP C C T rs149176868 TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:78777160C>T uc002bdr.2 + 12 1633 c.1471C>T c.(1471-1473)CAT>TAT p.H491Y IREB2_uc010unb.1_Missense_Mutation_p.H241Y NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 491 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TGTCTCCATTCATTATGAAGG 0.353 NSCLC(200;764 2208 35157 49871 50830) NA 4 63 0 0 0.009096 0 0 FSD2 123722 broad.mit.edu 37 15 83455853 83455853 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:83455853C>T uc002bjd.2 - 2 457 c.290G>A c.(289-291)AGA>AAA p.R97K FSD2_uc010uol.1_Missense_Mutation_p.R97K|FSD2_uc010uom.1_Missense_Mutation_p.R97K NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 97 central_nervous_system(1) 1 AACCCCTGTTCTGGGTATGTT 0.468 NA 30 112 0 0 0.010818 0 0 KIF7 374654 broad.mit.edu 37 15 90173628 90173628 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr15:90173628G>A uc002bof.2 - 16 3285 c.3208C>T c.(3208-3210)CTT>TTT p.L1070F KIF7_uc010upw.1_Missense_Mutation_p.L556F|C15orf42_uc010upv.1_RNA NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN kinesin family member 7 1070 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding ovary(2)|lung(1) 3 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GAGGCCCGAAGCACCCGCTGG 0.592 NA 3 33 0 0 0.004672 0 0 PKD1 5310 broad.mit.edu 37 16 2161870 2161870 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr16:2161870C>T uc002cos.1 - 15 3507 c.3298G>A c.(3298-3300)GAG>AAG p.E1100K PKD1_uc002cot.1_Missense_Mutation_p.E1100K NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1100 PKD 5.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 AGGAGGTACTCACCTGTGGGG 0.706 NA 7 29 0 0 0.006214 0 0 ITGAM 3684 broad.mit.edu 37 16 31309257 31309257 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr16:31309257C>G uc002ebq.2 + 14 1787 c.1689C>G c.(1687-1689)ATC>ATG p.I563M ITGAM_uc002ebr.2_Missense_Mutation_p.I564M|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 563 FG-GAP 6.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GATCTGGCATCAGCCCCTCCC 0.557 NA 10 39 0 0 0.006214 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674454 71674454 + Missense_Mutation SNP C C T rs140602857 TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr16:71674454C>T uc002fau.2 + 3 820 c.757C>T c.(757-759)CGG>TGG p.R253W PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane skin(1) 1 Ovarian(137;0.125) AGAGCAGGTTCGGCAGCTGGA 0.577 NA 23 90 0 0 0.005443 0 0 TCF25 22980 broad.mit.edu 37 16 89964965 89964965 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr16:89964965G>C uc002fpb.2 + 10 1105 c.1023G>C c.(1021-1023)AGG>AGC p.R341S TCF25_uc002fpc.2_Missense_Mutation_p.R106S NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 341 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TTGGATCTAGGAGCTTCTACC 0.577 NA 48 145 0 0 0.01441 0 0 SRR 63826 broad.mit.edu 37 17 2224685 2224685 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:2224685G>C uc002fue.1 + 5 553 c.485G>C c.(484-486)GGA>GCA p.G162A SRR_uc002fui.1_Missense_Mutation_p.G13A NM_021947 NP_068766 Q9GZT4 SRR_HUMAN serine racemase 162 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity 0 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GTGATAGCTGGACAAGGGACA 0.413 NA 27 70 0 0 0.00632 0 0 ALOX15B 247 broad.mit.edu 37 17 7950584 7950584 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:7950584C>G uc002gju.2 + 11 1582 c.1466C>G c.(1465-1467)TCT>TGT p.S489C ALOX15B_uc002gjv.2_Missense_Mutation_p.S460C|ALOX15B_uc002gjw.2_Intron|ALOX15B_uc010vun.1_Intron|ALOX15B_uc010cnp.2_Missense_Mutation_p.S295C NM_001141 NP_001132 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, second type 489 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity ovary(1) 1 AGCTTTGTCTCTGAAATCATC 0.532 NA 76 68 0 0 0.01441 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565946 18565946 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:18565946C>G uc010vyd.1 - 5 1124 c.873G>C c.(871-873)CAG>CAC p.Q291H NM_001145045 NP_001138517 P0CG31 Z286B_HUMAN zinc finger protein 286B 291 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TATGAGTTCTCTGGTGTTTAG 0.403 NA 9 48 0 0 0.010729 0 0 KRT37 8688 broad.mit.edu 37 17 39579083 39579083 + Nonsense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:39579083G>A uc002hwp.1 - 3 726 c.679C>T c.(679-681)CAG>TAG p.Q227* uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 227 Rod.|Coil 1B. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GACTCCTGCTGGGCCTCCAGG 0.667 NA 10 36 0 0 0.00245 0 0 CNTD1 124817 broad.mit.edu 37 17 40957871 40957872 + Missense_Mutation DNP GG GG CT TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:40957871_40957872GG>CT uc002ibm.3 + 4 781_782 c.549_550GG>CT c.(547-552)CTGGCA>CTCTCA p.A184S CNTD1_uc010wha.1_Missense_Mutation_p.A101S NM_173478 NP_775749 Q8N815 CNTD1_HUMAN cyclin N-terminal domain containing 1 184 central_nervous_system(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCACTCCCCTGGCATATGTGGA 0.455 NA 13 43 0 0 0.004672 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48217463 48217463 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:48217463C>T uc002iqh.3 - 7 1864 c.1861G>A c.(1861-1863)GAG>AAG p.E621K NM_032595 NP_115984 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 619 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity 0 CCTACCTCCTCGTCATCCTCC 0.597 NA OREG0024556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 17 0 0 0.00308 0 0 KIF2B 84643 broad.mit.edu 37 17 51902371 51902371 + Silent SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:51902371G>C uc002iua.2 + 1 2133 c.1977G>C c.(1975-1977)CTG>CTC p.L659L uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 659 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AAAAGAAACTGAAATTATTAC 0.458 NA 11 42 0 0 0.001855 0 0 BPTF 2186 broad.mit.edu 37 17 65850861 65850861 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:65850861G>A uc002jgf.2 + 2 1480 c.1419G>A c.(1417-1419)TTG>TTA p.L473L BPTF_uc002jge.2_Silent_p.L473L|BPTF_uc010wqm.1_Silent_p.L473L NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 473 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACTGGTTCTTGAACCGAAGAC 0.353 NA 8 47 0 0 0.004482 0 0 KIAA0195 9772 broad.mit.edu 37 17 73490824 73490824 + Missense_Mutation SNP G G T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:73490824G>T uc002jnz.3 + 19 2799 c.2524G>T c.(2524-2526)GAT>TAT p.D842Y KIAA0195_uc010wsa.1_Missense_Mutation_p.D852Y|KIAA0195_uc010wsb.1_Missense_Mutation_p.D482Y|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 842 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGCCTCATTGATGGGCTTGT 0.577 NA 15 112 3.32936e-07 3.50888e-07 0.006122 1 0 GALK1 2584 broad.mit.edu 37 17 73754172 73754172 + Missense_Mutation SNP G G C rs111033608 TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:73754172G>C uc010wsi.1 - 8 1207 c.1144C>G c.(1144-1146)CAA>GAA p.Q382E GALK1_uc002jpk.2_Missense_Mutation_p.Q382E NM_000154 NP_000145 P51570 GALK1_HUMAN galactokinase 1 382 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding 0 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TCGGCTGCTTGAGAGAGGTAG 0.692 NA 19 54 0 0 0.010504 0 0 DSG3 1830 broad.mit.edu 37 18 29041325 29041325 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr18:29041325G>A uc002kws.2 + 8 1058 c.949G>A c.(949-951)GAA>AAA p.E317K NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 317 Cadherin 3.|Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AAATTGGTTTGAAATACAAAC 0.348 NA 22 75 0 0 0.008361 0 0 GALNT1 2589 broad.mit.edu 37 18 33243677 33243677 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr18:33243677G>A uc010dmu.2 + 3 278 c.225G>A c.(223-225)ATG>ATA p.M75I GALNT1_uc002kyz.3_Missense_Mutation_p.M15I|GALNT1_uc002kza.2_Missense_Mutation_p.M75I|GALNT1_uc002kzb.2_Missense_Mutation_p.M75I NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 75 Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 AAGAAAAGATGAAAGAGATGT 0.378 NA 24 50 0 0 0.00278 0 0 IER3IP1 51124 broad.mit.edu 37 18 44683867 44683867 + Nonsense_Mutation SNP C C A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr18:44683867C>A uc002lcu.2 - 2 230 c.133G>T c.(133-135)GAG>TAG p.E45* NM_016097 NP_057181 Q9Y5U9 IR3IP_HUMAN immediate early response 3 interacting protein 45 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane 0 ATTCCCGGCTCTTCTCCAAAT 0.393 NA 32 112 3.70713e-34 4.02542e-34 0.01441 1 0 ALPK2 115701 broad.mit.edu 37 18 56205245 56205245 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr18:56205245C>G uc002lhj.3 - 5 2388 c.2174G>C c.(2173-2175)AGA>ACA p.R725T ALPK2_uc002lhk.1_Missense_Mutation_p.R56T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 725 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GTTGCCATCTCTGTCTTGTTT 0.458 NA 39 167 0 0 0.01441 0 0 ACSBG2 81616 broad.mit.edu 37 19 6183092 6183092 + Silent SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:6183092C>G uc002mef.1 + 10 1358 c.1131C>G c.(1129-1131)CTC>CTG p.L377L ACSBG2_uc002mee.1_Silent_p.L190L|ACSBG2_uc002meg.1_Silent_p.L377L|ACSBG2_uc002meh.1_Silent_p.L377L|ACSBG2_uc002mei.1_Silent_p.L327L|ACSBG2_uc010xiz.1_Silent_p.L377L NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN bubblegum-related acyl-CoA synthetase 2 377 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity ovary(1) 1 CTAAGACTCTCGTGTTCAGCA 0.498 NA 25 93 0 0 0.013726 0 0 FBN3 84467 broad.mit.edu 37 19 8201290 8201290 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:8201290C>T uc002mjf.2 - 10 1348 c.1327G>A c.(1327-1329)GTG>ATG p.V443M NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 443 EGF-like 3. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TCGCCGCGCACGTCCTGGGTG 0.647 NA 4 71 0 0 0.009096 0 0 ZNF561 93134 broad.mit.edu 37 19 9721178 9721178 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:9721178G>A uc002mlu.2 - 6 1364 c.1159C>T c.(1159-1161)CAC>TAC p.H387Y ZNF561_uc010dwu.2_Missense_Mutation_p.H318Y|ZNF561_uc010xkr.1_Missense_Mutation_p.H251Y NM_152289 NP_689502 Q8N587 ZN561_HUMAN zinc finger protein 561 387 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTCCTGTGTGAATTCTTGTA 0.403 NA 16 82 0 0 0.00499 0 0 COL5A3 50509 broad.mit.edu 37 19 10087239 10087239 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:10087239G>A uc002mmq.1 - 45 3423 c.3337C>T c.(3337-3339)CCC>TCC p.P1113S NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1113 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CTCACCGGGGGACCTGGGTGT 0.532 NA 3 9 0 0 0.009096 0 0 RDH8 50700 broad.mit.edu 37 19 10127876 10127876 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:10127876G>C uc002mmr.2 + 2 496 c.247G>C c.(247-249)GAA>CAA p.E83Q NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 83 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) TATCCAGGGAGAAGTGGACGT 0.602 NA 14 28 0 0 0.007413 0 0 DHPS 1725 broad.mit.edu 37 19 12786738 12786738 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:12786738C>T uc002muh.1 - 9 1121 c.1024G>A c.(1024-1026)GAC>AAC p.D342N DHPS_uc002muf.1_Missense_Mutation_p.D219N|DHPS_uc002mug.1_Missense_Mutation_p.D300N|DHPS_uc002mui.1_Missense_Mutation_p.D295N|DHPS_uc002muj.1_Missense_Mutation_p.D286N|DHPS_uc002muk.1_RNA NM_001930 NP_001921 P49366 DHYS_HUMAN deoxyhypusine synthase isoform a 342 NAD. D->A: Strongly reduced NAD binding. Strongly reduced activity. peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1) 1 Sulfadoxine(DB01299) AGGGAGGCGTCAGCATAGACC 0.607 NA OREG0025272 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 43 0 0 0.010729 0 0 CACNA1A 773 broad.mit.edu 37 19 13395961 13395961 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:13395961C>T uc010dze.2 - 21 3852 c.3616G>A c.(3616-3618)GAG>AAG p.E1206K CACNA1A_uc010dzc.2_Missense_Mutation_p.E731K|CACNA1A_uc002mwy.3_Missense_Mutation_p.E1205K|CACNA1A_uc010xne.1_Missense_Mutation_p.E734K NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1206 Cytoplasmic (Potential).|Poly-Glu. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) tcgtcttcctcctcctccttc 0.458 NA 14 52 0 0 0.003163 0 0 HAPLN4 404037 broad.mit.edu 37 19 19371821 19371821 + Missense_Mutation SNP G G T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:19371821G>T uc002nmb.2 - 3 340 c.285C>A c.(283-285)TTC>TTA p.F95L HAPLN4_uc002nmc.2_Missense_Mutation_p.F95L NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 95 Ig-like C2-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) AGACGTCGGTGAAGGCCAGCG 0.692 NA 15 57 5.03518e-11 5.38589e-11 0.007413 1 0 ZNF607 84775 broad.mit.edu 37 19 38198843 38198843 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:38198843C>T uc002ohc.1 - 4 803 c.207G>A c.(205-207)GTG>GTA p.V69V ZNF607_uc002ohb.1_Silent_p.V68V NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) TTTCTTCCCTCACAATCATCC 0.438 NA 15 58 0 0 0.006122 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38610393 38610393 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:38610393C>T uc002ohk.2 + 9 3248 c.2739C>T c.(2737-2739)TGC>TGT p.C913C NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 913 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACTGCTACTGCGGGGATGTCA 0.532 NA 5 141 0 0 0.000602 0 0 CNTD2 79935 broad.mit.edu 37 19 40730538 40730538 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:40730538G>C uc010xvi.1 - 3 419 c.370C>G c.(370-372)CTG>GTG p.L124V CNTD2_uc002ond.2_RNA NM_024877 NP_079153 Q9H8S5 CNTD2_HUMAN cyclin N-terminal domain containing 2 isoform 2 124 regulation of cyclin-dependent protein kinase activity protein kinase binding 0 TCACCAGCCAGACCCAGGTAC 0.637 NA 11 36 0 0 0.00245 0 0 RTN2 6253 broad.mit.edu 37 19 45998252 45998252 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:45998252C>T uc002pcb.2 - 3 319 c.91G>A c.(91-93)GAC>AAC p.D31N RTN2_uc002pcc.2_Missense_Mutation_p.D31N|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 31 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) AAATCAGAGTCGTCGTTCCCT 0.622 NA 18 55 0 0 0.010504 0 0 LIN7B 64130 broad.mit.edu 37 19 49618206 49618206 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:49618206C>G uc002pmp.2 + 2 182 c.138C>G c.(136-138)TTC>TTG p.F46L NM_022165 NP_071448 Q9HAP6 LIN7B_HUMAN lin-7 homolog B 46 L27. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein domain specific binding 0 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01) AGAGCCGCTTCTGCTCCGCTA 0.721 NA 4 8 0 0 0.001984 0 0 TMC4 147798 broad.mit.edu 37 19 54664081 54664081 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:54664081G>A uc010erf.2 - 15 2233 c.2101C>T c.(2101-2103)CGC>TGC p.R701C LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.R415C|TMC4_uc002qdo.2_Missense_Mutation_p.R695C NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 701 Cytoplasmic (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCACAGCGCGCCGTGCCAGG 0.567 NA 26 74 0 0 0.00632 0 0 ZNF583 147949 broad.mit.edu 37 19 56935705 56935705 + Nonsense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:56935705C>T uc010ygl.1 + 5 1843 c.1678C>T c.(1678-1680)CAG>TAG p.Q560* ZNF583_uc002qnc.2_Nonsense_Mutation_p.Q560*|ZNF583_uc010ygm.1_Nonsense_Mutation_p.Q560* NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) cacatcaaatcagttgccaag 0.104 NA 7 12 0 0 0.001984 0 0 ZNF544 27300 broad.mit.edu 37 19 58773458 58773458 + Nonsense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:58773458C>T uc010euo.2 + 7 1960 c.1486C>T c.(1486-1488)CAG>TAG p.Q496* ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Nonsense_Mutation_p.Q468*|ZNF544_uc010yhy.1_Nonsense_Mutation_p.Q468*|ZNF544_uc002qrt.3_Nonsense_Mutation_p.Q354*|ZNF544_uc002qru.3_Nonsense_Mutation_p.Q354*|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 496 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) CAAATGTACTCAGTGTGGGAA 0.448 NA 33 66 0 0 0.00623 0 0 ROCK2 9475 broad.mit.edu 37 2 11367475 11367475 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:11367475G>A uc002rbd.1 - 6 1222 c.773C>T c.(772-774)TCA>TTA p.S258L NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 258 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AACCTCAGGTGATATATAATC 0.423 NA 38 222 0 0 0.01441 0 0 PUM2 23369 broad.mit.edu 37 2 20508167 20508167 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:20508167C>G uc002rds.1 - 5 720 c.697G>C c.(697-699)GAA>CAA p.E233Q PUM2_uc002rdt.1_Missense_Mutation_p.E233Q|PUM2_uc002rdr.2_Missense_Mutation_p.E172Q|PUM2_uc010yjy.1_Missense_Mutation_p.E233Q|PUM2_uc002rdu.1_Missense_Mutation_p.E233Q|PUM2_uc010yjz.1_Missense_Mutation_p.E172Q NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 233 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTAAGGATTCCAGACCAACT 0.433 NA 23 102 0 0 0.007291 0 0 KIF3C 3797 broad.mit.edu 37 2 26178520 26178520 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:26178520G>A uc002rgu.2 - 3 2317 c.1660C>T c.(1660-1662)CGG>TGG p.R554W KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R554W NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 554 Potential. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCATCTCCCGCTCACGACGT 0.602 NA 39 40 0 0 0.01441 0 0 SOS1 6654 broad.mit.edu 37 2 39224544 39224544 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:39224544C>G uc002rrk.3 - 18 2855 c.2814G>C c.(2812-2814)TTG>TTC p.L938F SOS1_uc002rrj.3_Missense_Mutation_p.L552F NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 938 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) CTTCTGTTTTCAAGATATTAG 0.333 NA Noonan_syndrome 14 50 0 0 0.006122 0 0 NRXN1 9378 broad.mit.edu 37 2 50724737 50724737 + Missense_Mutation SNP G G T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:50724737G>T uc010fbq.2 - 14 4210 c.2733C>A c.(2731-2733)AGC>AGA p.S911R NRXN1_uc002rxb.3_Missense_Mutation_p.S543R|NRXN1_uc002rxe.3_Missense_Mutation_p.S871R|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TAAATGTCAAGCTCTGCAGGT 0.433 NA 7 39 5.18039e-06 5.3806e-06 0.00308 1 0 ZNF638 27332 broad.mit.edu 37 2 71650506 71650506 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:71650506C>G uc002shx.2 + 22 4181 c.3862C>G c.(3862-3864)CCC>GCC p.P1288A ZNF638_uc010yqw.1_Missense_Mutation_p.P867A|ZNF638_uc002shy.2_Missense_Mutation_p.P1288A|ZNF638_uc002shz.2_Missense_Mutation_p.P1288A|ZNF638_uc002sia.2_Missense_Mutation_p.P1288A|ZNF638_uc002sib.1_Intron|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.P385A|ZNF638_uc002sid.2_Intron NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1288 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ACCAGGAATTCCCACTGGGGA 0.368 NA 8 52 0 0 0.004482 0 0 NPHP1 4867 broad.mit.edu 37 2 110905540 110905540 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:110905540G>C uc002tfn.3 - 13 1481 c.1387C>G c.(1387-1389)CCA>GCA p.P463A NPHP1_uc002tfm.3_Missense_Mutation_p.P408A|NPHP1_uc002tfl.3_Missense_Mutation_p.P464A|NPHP1_uc002tfo.3_Missense_Mutation_p.P345A|NPHP1_uc010ywx.1_Missense_Mutation_p.P407A|NPHP1_uc010fjv.1_Missense_Mutation_p.P407A NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 463 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 CCAAGATCTGGAGATGCAGAA 0.318 NA 23 94 0 0 0.005443 0 0 PRPF40A 55660 broad.mit.edu 37 2 153530178 153530178 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:153530178C>G uc002tyi.2 - 11 1168 c.1155G>C c.(1153-1155)AAG>AAC p.K385N PRPF40A_uc002tyh.3_Missense_Mutation_p.K358N|PRPF40A_uc010zcd.1_Missense_Mutation_p.K305N|PRPF40A_uc002tyj.2_Missense_Mutation_p.K254N NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 385 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TGTATGTTTTCTTTGCTGGTT 0.299 NA 3 36 0 0 0.000602 0 0 TTC21B 79809 broad.mit.edu 37 2 166767949 166767949 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:166767949C>T uc002udk.2 - 18 2482 c.2349G>A c.(2347-2349)CTG>CTA p.L783L NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 783 TPR 10. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 GTCCAGTTTTCAGAGCAGCTT 0.358 NA 17 61 0 0 0.010504 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802465 185802465 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:185802465C>T uc002uph.2 + 4 2936 c.2342C>T c.(2341-2343)TCA>TTA p.S781L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 781 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TCTTATTCTTCAGATGAAAGT 0.373 NA 12 36 0 0 0.001855 0 0 ABCA12 26154 broad.mit.edu 37 2 215880343 215880343 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:215880343G>A uc002vew.2 - 15 2047 c.1827C>T c.(1825-1827)ATC>ATT p.I609I ABCA12_uc002vev.2_Silent_p.I291I|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 609 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGGGAGTGGTGATATTAGTAT 0.423 Ovarian(66;664 1488 5121 34295) NA 20 24 0 0 0.00278 0 0 HDLBP 3069 broad.mit.edu 37 2 242206264 242206264 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr2:242206264C>G uc002waz.2 - 3 249 c.21G>C c.(19-21)TTG>TTC p.L7F HDLBP_uc002wba.2_Missense_Mutation_p.L7F|HDLBP_uc002wbb.2_Missense_Mutation_p.L28F|HDLBP_uc010fzn.1_5'UTR NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 7 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TCTCTTGGGTCAAAACTGCAA 0.443 NA 4 107 0 0 0.001984 0 0 UBOX5 22888 broad.mit.edu 37 20 3102754 3102754 + Silent SNP G G T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr20:3102754G>T uc002whw.2 - 3 701 c.531C>A c.(529-531)ATC>ATA p.I177I uc002whv.1_Intron|UBOX5_uc002whx.2_Silent_p.I177I|UBOX5_uc002why.1_Silent_p.I177I NM_014948 NP_055763 O94941 RNF37_HUMAN U-box domain containing 5 isoform a 177 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 TCACATGGGTGATACAGATCC 0.582 NA 22 76 9.86323e-18 1.06563e-17 0.003954 1 0 PLCB1 23236 broad.mit.edu 37 20 8721083 8721083 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr20:8721083G>C uc002wnb.2 + 22 2404 c.2401G>C c.(2401-2403)GAC>CAC p.D801H PLCB1_uc010zrb.1_Missense_Mutation_p.D700H|PLCB1_uc002wna.2_Missense_Mutation_p.D801H|PLCB1_uc002wnc.1_Missense_Mutation_p.D700H|PLCB1_uc002wnd.1_Missense_Mutation_p.D378H NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 801 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CTATGTGCCAGACACATATGC 0.408 NA 16 60 0 0 0.004007 0 0 REM1 28954 broad.mit.edu 37 20 30065669 30065669 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr20:30065669G>C uc002wwa.2 + 3 663 c.379G>C c.(379-381)GAC>CAC p.D127H NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 127 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GGATGGAGAAGACACCACACT 0.557 NA 9 27 0 0 0.010729 0 0 IGSF5 150084 broad.mit.edu 37 21 41142889 41142889 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr21:41142889G>C uc002yyo.2 + 4 568 c.465G>C c.(463-465)GAG>GAC p.E155D NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 155 Ig-like V-type 2.|Extracellular (Potential). integral to membrane|tight junction 0 Prostate(19;5.35e-06) TAGTCGCTGAGAATGAACCTT 0.463 NA 12 50 0 0 0.00245 0 0 PWP2 5822 broad.mit.edu 37 21 45540973 45540973 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr21:45540973G>A uc002zeb.2 + 13 1716 c.1626G>A c.(1624-1626)CTG>CTA p.L542L NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 542 WD 12. cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CGCTGGCCCTGACCTCTGATG 0.607 NA 12 26 0 0 0.013537 0 0 CLTCL1 8218 broad.mit.edu 37 22 19222139 19222139 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr22:19222139G>A uc002zpb.2 - 7 1135 c.1060C>T c.(1060-1062)CGT>TGT p.R354C CLTCL1_uc011agv.1_Missense_Mutation_p.R354C|CLTCL1_uc011agw.1_Missense_Mutation_p.R354C NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 354 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) AGGTTACTACGAACGGCCAAA 0.483 NA T ? ALCL 10 114 0 0 0.008291 0 0 CSNK1E 1454 broad.mit.edu 37 22 38690475 38690475 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr22:38690475C>T uc003avj.2 - 8 1212 c.951G>A c.(949-951)ATG>ATA p.M317I CSNK1E_uc003avk.2_Missense_Mutation_p.M317I|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.M317I|CSNK1E_uc003avn.1_Missense_Mutation_p.M1I|CSNK1E_uc003avo.2_Missense_Mutation_p.M317I NM_152221 NP_689407 P49674 KC1E_HUMAN casein kinase 1 epsilon 317 DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1) 3 Melanoma(58;0.045) GTAGCTGCCCCATCCTCTCCT 0.706 Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601) NA 3 18 0 0 0.004672 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47290698 47290698 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr22:47290698C>T uc003bib.2 + 7 991 c.856C>T c.(856-858)CGC>TGC p.R286C TBC1D22A_uc010haf.2_Missense_Mutation_p.R256C|TBC1D22A_uc003bic.2_Missense_Mutation_p.R227C|TBC1D22A_uc003bie.2_Missense_Mutation_p.R208C|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R239C NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 286 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) AGACATCCCTCGCATGAGCCC 0.507 NA 35 110 0 0 0.011902 0 0 MYRIP 25924 broad.mit.edu 37 3 40251560 40251560 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr3:40251560G>C uc003cka.2 + 11 2016 c.1881G>C c.(1879-1881)CAG>CAC p.Q627H MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.Q627H|MYRIP_uc010hhw.2_Missense_Mutation_p.Q538H|MYRIP_uc011ayz.1_Missense_Mutation_p.Q440H|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 627 Actin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) ACAACAGCCAGAGTGTCCAGG 0.507 NA 17 14 0 0 0.006122 0 0 LAMB2 3913 broad.mit.edu 37 3 49163465 49163465 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr3:49163465G>A uc003cwe.2 - 17 2578 c.2279C>T c.(2278-2280)TCT>TTT p.S760F LAMB2_uc003cwf.1_Missense_Mutation_p.S760F NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 760 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTCAGAGGGAGAAGTCTTGCT 0.597 NA 33 20 0 0 0.003755 0 0 NPRL2 10641 broad.mit.edu 37 3 50386409 50386409 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr3:50386409C>G uc003daj.1 - 5 884 c.481G>C c.(481-483)GAG>CAG p.E161Q NPRL2_uc003dai.1_Missense_Mutation_p.E41Q|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank NM_006545 NP_006536 Q8WTW4 NPRL2_HUMAN tumor suppressor candidate 4 161 negative regulation of kinase activity protein binding|protein kinase activity lung(1) 1 GGCCGCTGCTCAATCACCTTC 0.498 NA 49 65 0 0 0.01441 0 0 PDZRN3 23024 broad.mit.edu 37 3 73438989 73438989 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr3:73438989C>T uc003dpl.1 - 7 1490 c.1394G>A c.(1393-1395)CGA>CAA p.R465Q PDZRN3_uc011bgh.1_Missense_Mutation_p.R122Q|PDZRN3_uc010hoe.1_Missense_Mutation_p.R163Q|PDZRN3_uc011bgf.1_Missense_Mutation_p.R182Q|PDZRN3_uc011bgg.1_Missense_Mutation_p.R185Q NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 465 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GTCTCCTTCTCGGATGCGCCC 0.478 NA 4 98 0 0 0.009096 0 0 PVRL3 25945 broad.mit.edu 37 3 110837719 110837719 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr3:110837719G>C uc003dxt.1 + 3 719 c.719G>C c.(718-720)AGA>ACA p.R240T PVRL3_uc003dxu.1_Missense_Mutation_p.R217T NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 240 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 AGATTTGCTAGAGGAAGGCGA 0.383 NA 45 45 0 0 0.01441 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 Colon(199;1504 1750 3362 26421 31210 32040) E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 24 29 0 0 0.007291 0 0 N4BP2 55728 broad.mit.edu 37 4 40121580 40121580 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr4:40121580G>C uc003guy.3 + 9 2187 c.1849G>C c.(1849-1851)GAA>CAA p.E617Q N4BP2_uc010ifq.2_Missense_Mutation_p.E537Q|N4BP2_uc010ifr.2_Missense_Mutation_p.E537Q NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 617 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TATTATCTCTGAAAAAGAAGA 0.308 NA 10 72 0 0 0.010729 0 0 N4BP2 55728 broad.mit.edu 37 4 40122548 40122548 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr4:40122548G>C uc003guy.3 + 9 3155 c.2817G>C c.(2815-2817)AAG>AAC p.K939N N4BP2_uc010ifq.2_Missense_Mutation_p.K859N|N4BP2_uc010ifr.2_Missense_Mutation_p.K859N NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 939 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 AAAAACTAAAGACATTGGGTA 0.418 NA 12 46 0 0 0.003163 0 0 BMP2K 55589 broad.mit.edu 37 4 79808376 79808376 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr4:79808376C>G uc003hlk.2 + 15 2166 c.2000C>G c.(1999-2001)TCT>TGT p.S667C PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 667 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 GACTCACTTTCTGCTCCACAT 0.328 NA 4 26 0 0 0.000602 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192815 123192815 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr4:123192815C>G uc003ieh.2 + 45 8181 c.8136C>G c.(8134-8136)TTC>TTG p.F2712L KIAA1109_uc003iel.1_Missense_Mutation_p.F647L|KIAA1109_uc003iek.2_Missense_Mutation_p.F1331L NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2712 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TGCTTAACTTCTATTCACTTA 0.348 NA 6 50 0 0 0.001984 0 0 FAT4 79633 broad.mit.edu 37 4 126238505 126238505 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr4:126238505C>G uc003ifj.3 + 1 939 c.939C>G c.(937-939)TTC>TTG p.F313L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 313 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCCTGGACTTCGAAGCTCGGC 0.647 NA OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 45 0 0 0.008291 0 0 PCDH10 57575 broad.mit.edu 37 4 134073363 134073363 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr4:134073363G>A uc003iha.2 + 1 2894 c.2068G>A c.(2068-2070)GGG>AGG p.G690R PCDH10_uc003igz.2_Missense_Mutation_p.G690R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 690 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) gggcgggggcgggagcggagg 0.587 NA 22 35 0 0 0.00333 0 0 TLR2 7097 broad.mit.edu 37 4 154625613 154625613 + Silent SNP A A G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr4:154625613A>G uc003inq.2 + 3 1773 c.1554A>G c.(1552-1554)CAA>CAG p.Q518Q TLR2_uc003inr.2_Silent_p.Q518Q|TLR2_uc003ins.2_Silent_p.Q518Q NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 518 LRR 14.|Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) CTAAGGAGCAACTTGACTCAT 0.428 NA 45 39 0 0 0.010771 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049273 36049273 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr5:36049273G>A uc003jjz.1 - 4 654 c.561C>T c.(559-561)TTC>TTT p.F187F UGT3A2_uc011cos.1_Silent_p.F153F|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 187 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCAAGGAACGGAATACTGGAA 0.463 NA 25 71 0 0 0.003954 0 0 SERINC5 256987 broad.mit.edu 37 5 79454754 79454754 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr5:79454754G>C uc003kgj.2 - 8 1020 c.891C>G c.(889-891)ATC>ATG p.I297M SERINC5_uc003kgk.2_Missense_Mutation_p.I295M|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.I297M|SERINC5_uc011ctj.1_Missense_Mutation_p.I297M NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 297 Cytoplasmic (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) CAGGCACACAGATTGTAACAT 0.403 NA 5 95 0 0 0.00308 0 0 DDX46 9879 broad.mit.edu 37 5 134147433 134147433 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr5:134147433C>T uc003kzw.2 + 18 2502 c.2334C>T c.(2332-2334)TTC>TTT p.F778F DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 778 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTAAGGGATTCAAGTTTGATG 0.353 Colon(13;391 453 4901 21675 24897) NA 15 58 0 0 0.006122 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214417 140214417 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr5:140214417C>G uc003lhq.2 + 1 449 c.449C>G c.(448-450)TCT>TGT p.S150C 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_uc011dac.1_Missense_Mutation_p.S150C NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 150 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCTTGACTCTCGGTTTCCA 0.552 NSCLC(160;258 2013 5070 22440 28951) NA 3 33 0 0 0.00308 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228529 140228529 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr5:140228529C>G uc003lhu.2 + 1 1173 c.449C>G c.(448-450)TCT>TGT p.S150C 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_uc003lht.1_Missense_Mutation_p.S150C NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 150 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCTTGACTCTCGGTTTCCA 0.542 Melanoma(55;1800 1972 14909) NA 7 63 0 0 0.00499 0 0 DPYSL3 1809 broad.mit.edu 37 5 146777387 146777387 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr5:146777387C>T uc003lon.1 - 12 1413 c.1303G>A c.(1303-1305)GAA>AAA p.E435K DPYSL3_uc003loo.2_Missense_Mutation_p.E549K NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 435 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCATCCCTTCAAAGATGTTG 0.567 NA 9 30 0 0 0.008291 0 0 GRIA1 2890 broad.mit.edu 37 5 153144112 153144112 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr5:153144112G>C uc003lva.3 + 12 2307 c.1942G>C c.(1942-1944)GAG>CAG p.E648Q GRIA1_uc003luy.3_Missense_Mutation_p.E648Q|GRIA1_uc003luz.3_Missense_Mutation_p.E553Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E568Q|GRIA1_uc011dcx.1_Missense_Mutation_p.E579Q|GRIA1_uc011dcy.1_Missense_Mutation_p.E658Q|GRIA1_uc011dcz.1_Missense_Mutation_p.E658Q NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 648 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) GTCTCCCATTGAGAGTGCAGA 0.532 NA 3 54 0 0 0.004672 0 0 CDHR2 54825 broad.mit.edu 37 5 176002508 176002508 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr5:176002508G>A uc003mem.1 + 10 836 c.770G>A c.(769-771)GGA>GAA p.G257E CDHR2_uc003men.1_Missense_Mutation_p.G257E NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 257 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CCATTCCAGGGAACCTCGGTG 0.632 NA 6 146 0 0 0.001168 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032138 26032138 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:26032138C>G uc003nfs.1 - 1 151 c.151G>C c.(151-153)GAG>CAG p.E51Q NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 51 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.E51Q(1) ovary(2) 2 CGGCGGATCTCGCGCAGAGCC 0.627 NA 19 134 0 0 0.00278 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26124097 26124097 + Silent SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:26124097C>T uc003ngk.3 - 1 58 c.36G>A c.(34-36)AAG>AAA p.K12K HIST1H2BC_uc003ngl.2_Silent_p.K12K|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN histone cluster 1, H2bc 12 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 TGGAGCCCTTCTTCGGGGCGG 0.512 NA 23 115 0 0 0.005443 0 0 HIST1H2AJ 8331 broad.mit.edu 37 6 27782485 27782485 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:27782485G>A uc003njn.1 - 1 34 c.34C>T c.(34-36)CGC>TGC p.R12C HIST1H2BM_uc003njo.2_5'Flank NM_021066 NP_066544 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 12 nucleosome assembly nucleosome|nucleus DNA binding 0 GCCTTGGCGCGAGCTTTGCCT 0.542 NA 8 66 0 0 0.004482 0 0 PGBD1 84547 broad.mit.edu 37 6 28251760 28251760 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:28251760G>A uc003nky.2 + 2 540 c.170G>A c.(169-171)GGA>GAA p.G57E PGBD1_uc003nkz.2_Missense_Mutation_p.G57E NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 57 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 GAGGCTCACGGACCCCAGGAA 0.587 NA 23 56 0 0 0.00333 0 0 CDSN 1041 broad.mit.edu 37 6 31084746 31084746 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:31084746G>A uc003nsm.1 - 2 673 c.646C>T c.(646-648)CGT>TGT p.R216C PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN corneodesmosin precursor 216 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity ovary(1)|pancreas(1) 2 CTACAGGGACGCTGGTTGGAG 0.607 NA 26 126 0 0 0.008361 0 0 TNXB 7148 broad.mit.edu 37 6 32023733 32023733 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:32023733C>T uc003nzl.2 - 24 8564 c.8362G>A c.(8362-8364)GAG>AAG p.E2788K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2846 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 ACGGTGACCTCGCTCTCCTCG 0.687 NA 22 69 0 0 0.014323 0 0 SCUBE3 222663 broad.mit.edu 37 6 35210967 35210967 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:35210967G>A uc003okf.1 + 15 1869 c.1863G>A c.(1861-1863)CCG>CCA p.P621P SCUBE3_uc003okg.1_Silent_p.P620P|SCUBE3_uc003okh.1_Silent_p.P508P NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 621 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 GAGCAGAGCCGATGGAGTCCT 0.627 NA 23 78 0 0 0.005443 0 0 TEAD3 7005 broad.mit.edu 37 6 35444128 35444128 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:35444128C>T uc003oku.3 - 9 913 c.677G>A c.(676-678)CGG>CAG p.R226Q TEAD3_uc003okt.2_Missense_Mutation_p.R115Q|TEAD3_uc010jvx.2_Missense_Mutation_p.R166Q NM_003214 NP_003205 Q99594 TEAD3_HUMAN TEA domain family member 3 226 Transcriptional activation (Potential). female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTCCAGGAGCCGCAGCCGGGA 0.632 NA 17 49 0 0 0.007413 0 0 C6orf64 55776 broad.mit.edu 37 6 39082745 39082745 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:39082745G>C uc003ook.1 - 1 121 c.121C>G c.(121-123)CTA>GTA p.L41V C6orf64_uc011dty.1_RNA|C6orf64_uc003oom.1_RNA NM_018322 NP_060792 Q9NPB0 CF064_HUMAN hypothetical protein LOC55776 41 Ala-rich. integral to membrane 0 GCTGCCTTTAGAGTCGCTGCT 0.667 NA 12 52 0 0 0.00245 0 0 AARS2 57505 broad.mit.edu 37 6 44278827 44278827 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:44278827C>T uc010jza.1 - 4 656 c.653G>A c.(652-654)TGT>TAT p.C218Y SPATS1_uc003oxg.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 218 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ACAGGGCCCACAAGGGCCAGT 0.572 NA 4 128 0 0 0.001168 0 0 MUT 4594 broad.mit.edu 37 6 49421348 49421348 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:49421348G>C uc003ozg.3 - 5 1288 c.1033C>G c.(1033-1035)CTT>GTT p.L345V NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 345 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTAGAAGAAGAGATTTTGAG 0.303 NA 10 186 0 0 0.001855 0 0 FIG4 9896 broad.mit.edu 37 6 110113848 110113848 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:110113848G>A uc003ptt.2 + 21 2655 c.2440G>A c.(2440-2442)GAT>AAT p.D814N FIG4_uc011eau.1_Missense_Mutation_p.D537N NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 814 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CTCAGAAGAAGATTTCTCCAT 0.313 NA 15 27 0 0 0.010504 0 0 KIF25 3834 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr6:168430272T>A uc003qwk.1 + 2 269 c.7T>A c.(7-9)TGG>AGG p.W3R KIF25_uc010kkt.1_RNA|KIF25_uc003qwl.1_Missense_Mutation_p.W3R NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3C(1) ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.602 NA 4 92 0 0 0.009096 0 0 EIF3B 8662 broad.mit.edu 37 7 2409156 2409156 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:2409156G>A uc003slx.2 + 10 1536 c.1453G>A c.(1453-1455)GAA>AAA p.E485K EIF3B_uc003sly.2_Missense_Mutation_p.E485K|EIF3B_uc003sma.2_Missense_Mutation_p.E213K NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 485 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CTGGGTGCCTGAAGACAAAGA 0.473 NA 40 181 0 0 0.011902 0 0 GLCCI1 113263 broad.mit.edu 37 7 8110737 8110737 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:8110737G>A uc003srk.2 + 6 1712 c.1153G>A c.(1153-1155)GAT>AAT p.D385N NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 385 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CTCAACAGAAGATTTGCTCTA 0.473 NA 26 117 0 0 0.013726 0 0 FAM188B 84182 broad.mit.edu 37 7 30831131 30831131 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:30831131G>C uc003tbt.2 + 5 1091 c.1014G>C c.(1012-1014)ATG>ATC p.M338I FAM188B_uc010kwe.2_Missense_Mutation_p.M309I NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 338 0 ATTCCAGGATGACCCAGGAGA 0.587 NA 13 36 0 0 0.003163 0 0 ZNF735 730291 broad.mit.edu 37 7 63680216 63680216 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:63680216C>T uc011kdn.1 + 4 787 c.787C>T c.(787-789)CAC>TAC p.H263Y NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 263 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAAGAGAATTCACACTGGAGA 0.443 NA 5 30 0 0 0.000602 0 0 GTF2I 2969 broad.mit.edu 37 7 74173158 74173158 + Missense_Mutation SNP C C A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:74173158C>A uc003uau.2 + 34 3357 c.2987C>A c.(2986-2988)CCC>CAC p.P996H GTF2I_uc003uav.2_Missense_Mutation_p.P975H|GTF2I_uc003uaw.2_Missense_Mutation_p.P976H|GTF2I_uc003uay.2_Missense_Mutation_p.P974H|GTF2I_uc003uax.2_Missense_Mutation_p.P955H|GTF2I_uc003uba.2_Missense_Mutation_p.P187H NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 996 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 GAACCAGACCCCACGTGGTAG 0.468 NA 3 75 7.48243e-07 7.80933e-07 0.006214 1 0 COL1A2 1278 broad.mit.edu 37 7 94029590 94029590 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:94029590G>A uc003ung.1 + 5 686 c.215G>A c.(214-216)GGT>GAT p.G72D COL1A2_uc011kib.1_Missense_Mutation_p.G72D NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 72 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGCCCCCCTGGTCTCGGTGGG 0.488 NA HNSCC(75;0.22) 4 85 0 0 0.000602 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518581 113518581 + Nonsense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:113518581G>A uc010ljy.1 - 4 2597 c.2566C>T c.(2566-2568)CAA>TAA p.Q856* NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 856 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GTTGCTTTTTGATATTCTGTA 0.373 NA 25 116 0 0 0.00632 0 0 MDFIC 29969 broad.mit.edu 37 7 114655893 114655893 + Silent SNP T T C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:114655893T>C uc003vhf.2 + 5 1235 c.972T>C c.(970-972)CCT>CCC p.P324P NM_199072 NP_951038 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing protein 215 Cys-rich. activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus cyclin binding|Tat protein binding ovary(1) 1 GTAACTGCCCTTGTGATATGG 0.463 NA 4 265 0 0 0.001168 0 0 LOC407835 407835 broad.mit.edu 37 7 128767312 128767312 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:128767312G>A uc003voo.2 + 1 988 c.741G>A c.(739-741)TCG>TCA p.S247S NR_002144 SubName: Full=cDNA FLJ35806 fis, clone TESTI2005987, highly similar to Dual specificity mitogen-activated protein kinase kinase 2 (EC 2.7.12.2); SubName: Full=Mitogen-activated protein kinase kinase 2, isoform CRA_d; 0 CGGTGCAGTCGGTCATCTGGA 0.642 NA 2 3 0 0 0.009096 0 0 C7orf45 136263 broad.mit.edu 37 7 129847761 129847761 + Missense_Mutation SNP T T C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:129847761T>C uc003vpp.2 + 1 58 c.11T>C c.(10-12)CTT>CCT p.L4P TMEM209_uc003vpn.2_5'Flank|TMEM209_uc010lmc.1_5'Flank|TMEM209_uc003vpo.2_5'Flank NM_145268 NP_660311 Q8WWF3 CG045_HUMAN hypothetical protein LOC136263 4 integral to membrane 0 Melanoma(18;0.0435) ATGGGAGACCTTTTTTCCTTA 0.413 NA 3 107 0 0 0.001168 0 0 PLXNA4 91584 broad.mit.edu 37 7 131817925 131817925 + Silent SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr7:131817925G>A uc003vra.3 - 31 5701 c.5472C>T c.(5470-5472)ATC>ATT p.I1824I PLXNA4_uc003vqz.3_Silent_p.I109I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1824 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CTTGGTCGCTGATGGCTGGCA 0.507 NA 30 124 0 0 0.006999 0 0 PRKDC 5591 broad.mit.edu 37 8 48719862 48719862 + Missense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr8:48719862C>T uc003xqi.2 - 70 9640 c.9583G>A c.(9583-9585)GAG>AAG p.E3195K PRKDC_uc003xqj.2_Missense_Mutation_p.E3195K|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3195 KIP-binding.|FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTAAGCTTCTCCTCTATTTTG 0.418 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 53 97 0 0 0.01441 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733136 52733136 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr8:52733136C>G uc003xqx.3 - 6 1190 c.849G>C c.(847-849)CAG>CAC p.Q283H PCMTD1_uc011ldm.1_Missense_Mutation_p.Q153H|PCMTD1_uc003xqw.3_Missense_Mutation_p.Q283H|PCMTD1_uc011ldn.1_Missense_Mutation_p.Q95H|PCMTD1_uc010lya.2_Missense_Mutation_p.Q207H NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 283 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TGTTAATTCTCTGTTTAACTC 0.323 NA 6 246 0 0 0.006214 0 0 C8orf47 203111 broad.mit.edu 37 8 99102182 99102182 + Nonsense_Mutation SNP C C T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr8:99102182C>T uc003yih.1 + 2 1085 c.937C>T c.(937-939)CGA>TGA p.R313* NM_173549 NP_775820 Q6P6B1 CH047_HUMAN hypothetical protein LOC203111 313 Glu-rich. 0 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GCATCCAGCACGAAATGTAGA 0.443 NA 29 146 0 0 0.004289 0 0 RIMS2 9699 broad.mit.edu 37 8 105261043 105261043 + Splice_Site SNP T T A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr8:105261043T>A uc003yls.2 + 25 3884 c.3643_splice c.e25+2 p.G1215_splice RIMS2_uc003ylp.2_Splice_Site_p.G1197_splice|RIMS2_uc003ylw.2_Splice_Site_p.G1204_splice|RIMS2_uc003ylq.2_Splice_Site_p.G1011_splice|RIMS2_uc003ylr.2_Splice_Site_p.G1036_splice NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTGCAATGGGTAAGAATTTCT 0.383 NA HNSCC(12;0.0054) 5 101 0 0 0.001168 0 0 LRP12 29967 broad.mit.edu 37 8 105511743 105511743 + Nonsense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr8:105511743G>A uc003yma.2 - 4 372 c.277C>T c.(277-279)CAG>TAG p.Q93* LRP12_uc003ymb.2_Nonsense_Mutation_p.Q74* NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 93 Extracellular (Potential).|CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCAAAATCCTGAAAACTGAAA 0.299 NA 6 55 0 0 0.001984 0 0 DENND3 22898 broad.mit.edu 37 8 142178249 142178249 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr8:142178249C>G uc003yvy.2 + 13 1938 c.1660C>G c.(1660-1662)CTG>GTG p.L554V DENND3_uc010mep.2_Missense_Mutation_p.L515V|DENND3_uc003yvz.1_Missense_Mutation_p.L238V NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 554 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CGATAACTCTCTGCTCCTGGC 0.542 NA 93 168 0 0 0.01441 0 0 CYP11B1 1584 broad.mit.edu 37 8 143957662 143957662 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr8:143957662C>G uc003yxi.2 - 5 956 c.949G>C c.(949-951)GAC>CAC p.D317H CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'UTR|CYP11B1_uc003yxj.2_Missense_Mutation_p.D317H|CYP11B1_uc010mey.2_Missense_Mutation_p.D388H NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 317 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTGACCGTGTCCACGCTCCCT 0.617 NA Familial_Hyperaldosteronism_type_I 29 79 0 0 0.003755 0 0 PTCH1 5727 broad.mit.edu 37 9 98244475 98244475 + Silent SNP A A G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr9:98244475A>G uc004avk.3 - 4 783 c.595T>C c.(595-597)TTG>CTG p.L199L PTCH1_uc010mro.2_Silent_p.L48L|PTCH1_uc010mrp.2_Silent_p.L48L|PTCH1_uc010mrq.2_Silent_p.L48L|PTCH1_uc004avl.3_Silent_p.L48L|PTCH1_uc010mrr.2_Silent_p.L133L|PTCH1_uc004avm.3_Silent_p.L198L|PTCH1_uc010mrs.1_5'Flank|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Silent_p.L133L|PTCH1_uc010mrv.1_RNA NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 199 Extracellular (Potential). 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) AAATGTTCCAATTTCCACTGC 0.269 NA Basal_Cell_Nevus_syndrome 10 17 0 0 0.008291 0 0 C9orf156 51531 broad.mit.edu 37 9 100667199 100667199 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr9:100667199G>A uc004axv.1 - 5 1219 c.1142C>T c.(1141-1143)GCG>GTG p.A381V C9orf156_uc004axw.1_Missense_Mutation_p.A278V|C9orf156_uc004axx.1_Missense_Mutation_p.A235V NM_016481 NP_057565 Q9BU70 NAP1_HUMAN Nef associated protein 1 381 interspecies interaction between organisms hydrolase activity 0 Acute lymphoblastic leukemia(62;0.158) CCGAGGATCCGCTGACAGCAC 0.473 NA 3 57 0 0 0.004672 0 0 SFRS17A 8227 broad.mit.edu 37 X 1714321 1714321 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chrX:1714321G>C uc004cqa.2 + 3 1003 c.807G>C c.(805-807)AAG>AAC p.K269N SFRS17A_uc010ncx.1_Missense_Mutation_p.K269N|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 269 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCTCAATTAAGAAGCGGCAGC 0.517 NA 33 150 0 0 0.012213 0 0 TLR7 51284 broad.mit.edu 37 X 12906731 12906731 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chrX:12906731C>G uc004cvc.2 + 3 3243 c.3104C>G c.(3103-3105)ACA>AGA p.T1035R NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 1035 TIR.|Cytoplasmic (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) GCCCTGGCCACAGACAATCAT 0.517 NA 16 193 0 0 0.008871 0 0 ACE2 59272 broad.mit.edu 37 X 15605910 15605910 + Missense_Mutation SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chrX:15605910G>C uc004cxa.1 - 6 936 c.768C>G c.(766-768)ATC>ATG p.I256M ACE2_uc004cxb.2_Missense_Mutation_p.I256M NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 256 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) CAATTGGACTGATATAGGAAG 0.388 NA 10 201 0 0 0.004007 0 0 PPEF1 5475 broad.mit.edu 37 X 18725777 18725777 + Splice_Site SNP G G C TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chrX:18725777G>C uc004cyq.2 + 4 360 c.-121_splice c.e4-1 PPEF1_uc004cyp.2_Splice_Site|PPEF1_uc004cyr.2_Splice_Site|PPEF1_uc004cys.2_5'UTR|PPEF1_uc011mja.1_5'Flank NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) TTCCTCATTAGAATCTATGAC 0.458 NA 3 8 0 0 0.004672 0 0 MTMR8 55613 broad.mit.edu 37 X 63445233 63445233 + Missense_Mutation SNP C C G TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chrX:63445233C>G uc011mou.1 - 10 1491 c.1423G>C c.(1423-1425)GAC>CAC p.D475H ASB12_uc004dvp.1_Missense_Mutation_p.D91H|ASB12_uc004dvq.1_Missense_Mutation_p.D100H|ASB12_uc004dvr.1_Missense_Mutation_p.D100H NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 TCCAAGCTGTCAACATCAGCA 0.552 NA 3 20 0 0 0.009096 0 0 ZMYM3 9203 broad.mit.edu 37 X 70465569 70465569 + Nonsense_Mutation SNP C C A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chrX:70465569C>A uc004dzh.1 - 17 2896 c.2809G>T c.(2809-2811)GAA>TAA p.E937* BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Nonsense_Mutation_p.E937*|ZMYM3_uc004dzj.1_Nonsense_Mutation_p.E925* NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 937 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) GCAATCATTTCTGCCATAGCC 0.527 NA 7 41 0.00307968 0.00313806 0.00308 1 0 ACRC 93953 broad.mit.edu 37 X 70823512 70823512 + Missense_Mutation SNP G G A TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chrX:70823512G>A uc004eae.2 + 8 886 c.385G>A c.(385-387)GAC>AAC p.D129N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 129 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) TGATGACAATGACGATGACAA 0.448 NA 54 181 0 0 0.01441 0 0 TAF7L 54457 broad.mit.edu 37 X 100533109 100533109 + Missense_Mutation SNP A A T TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chrX:100533109A>T uc004ehb.2 - 8 775 c.763T>A c.(763-765)TAC>AAC p.Y255N TAF7L_uc004eha.2_Missense_Mutation_p.Y169N|TAF7L_uc004ehc.1_Missense_Mutation_p.Y169N NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 255 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 GATTCAATGTACTGAAGCAAA 0.433 Ovarian(104;431 1530 3210 15406 18594) NA 5 78 0 0 0.001984 0 0 MMEL1 79258 broad.mit.edu 37 1 2560819 2560821 + In_Frame_Del DEL CAG CAG - TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr1:2560819_2560821delCAG uc001ajy.2 - 2 317_319 c.103_105delCTG c.(103-105)CTGdel p.L35del MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 35 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CAGCGGTCACcagcagcagcagc 0.665 NA 3 5 --- --- --- --- NA NA NA NA NA WWP2 11060 broad.mit.edu 37 16 69833132 69833132 + Frame_Shift_Del DEL A A - TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr16:69833132delA uc002exu.1 + 5 363 c.274delA c.(274-276)AGAfs p.R92fs WWP2_uc002ext.2_Frame_Shift_Del_p.R92fs|WWP2_uc002exv.1_Frame_Shift_Del_p.R92fs NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 92 C2. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 CCATACCTTGAGAAATGAACT 0.453 NA OREG0023909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 71 --- --- --- --- NA NA NA NA NA IFI35 3430 broad.mit.edu 37 17 41164281 41164281 + Frame_Shift_Del DEL C C - TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr17:41164281delC uc010whj.1 + 2 303 c.107delC c.(106-108)TCCfs p.S36fs NM_005533 NP_005524 P80217 IN35_HUMAN interferon-induced protein 35 36 response to virus|type I interferon-mediated signaling pathway nucleus protein binding ovary(1) 1 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.157) CTCGGGGACTCCCCCAAAGAC 0.463 NA 2 4 --- --- --- --- NA NA NA NA NA CNDP2 55748 broad.mit.edu 37 18 72167216 72167221 + In_Frame_Del DEL CCCTCA CCCTCA - TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 CCCTCA CCCTCA - - CCCTCA CCCTCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr18:72167216_72167221delCCCTCA uc002llm.1 + 2 170_175 c.8_13delCCCTCA c.(7-15)GCCCTCACT>GCT p.LT4del CNDP2_uc002lln.1_In_Frame_Del_p.LT4del|CNDP2_uc002llo.2_In_Frame_Del_p.LT4del NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 4_5 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) AAGATGGCGGCCCTCACTACCCTGTT 0.466 NA 12 62 --- --- --- --- NA NA NA NA NA MEGF8 1954 broad.mit.edu 37 19 42880807 42880808 + Frame_Shift_Del DEL GC GC - TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr19:42880807_42880808delGC uc002otl.3 + 41 8852_8853 c.8217_8218delGC c.(8215-8220)CTGCGGfs p.L2739fs MEGF8_uc002otm.3_Frame_Shift_Del_p.L2347fs|MEGF8_uc002otn.3_Frame_Shift_Del_p.L400fs NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2806_2807 Gly-rich.|Cytoplasmic (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) TCGTCACACTGCGGCACAGGCT 0.688 NA 3 5 --- --- --- --- NA NA NA NA NA BAP1 8314 broad.mit.edu 37 3 52437500 52437500 + Frame_Shift_Del DEL C C - TCGA-95-7948-01A-11D-2184-08 TCGA-95-7948-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ab3b50c5-0335-4685-acc2-eeadbf2a9c1b 984543c0-0d4b-4b68-997e-a8e3a755414d g.chr3:52437500delC uc003ddx.2 - 13 1776 c.1661delG c.(1660-1662)GGTfs p.G554fs BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 554 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) GATGACAGGACCCAGATCACG 0.607 GBM(101;493 1458 7992 21037 25532) NA N|Mis|F|S|O uveal melanoma|breast|NSCLC 77 32 --- --- --- --- NA NA NA NA NA