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 DVL1 1855 broad.mit.edu 37 1 1273747 1273747 + Missense_Mutation SNP T T A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:1273747T>A uc001aer.3 - 13 1381 c.1334A>T c.(1333-1335)TAC>TTC p.Y445F DVL1_uc002quu.2_Missense_Mutation_p.Y187F|DVL1_uc009vka.2_Missense_Mutation_p.Y128F|DVL1_uc001aeu.1_Missense_Mutation_p.Y204F NM_004421 NP_004412 O14640 DVL1_HUMAN dishevelled 1 470 DEP. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-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)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCTGCTGGCGTACTTCCGGGC 0.647 NA 18 23 0 0 0.007413 0 0 UTS2 10911 broad.mit.edu 37 1 7912998 7912998 + Silent SNP A A T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:7912998A>T uc001aor.2 - 1 107 c.66T>A c.(64-66)CCT>CCA p.P22P UTS2_uc001aoq.2_Silent_p.P22P|UTS2_uc001aos.2_Intron NM_006786 NP_006777 O95399 UTS2_HUMAN urotensin 2 isoform b preproprotein 22 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity 0 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) AGTCAAGGAGAGGAAGAGATA 0.393 NA 11 41 0 0 0.016723 0 0 IL22RA1 58985 broad.mit.edu 37 1 24460774 24460774 + Missense_Mutation SNP C C G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:24460774C>G uc001biq.1 - 4 497 c.458G>C c.(457-459)CGG>CCG p.R153P IL22RA1_uc010oeg.1_Missense_Mutation_p.R45P|IL22RA1_uc009vrb.1_Missense_Mutation_p.R17P|IL22RA1_uc010oeh.1_Missense_Mutation_p.R153P NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 153 Extracellular (Potential).|Fibronectin type-III 2. 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) CAGGGTTAGCCGGTGGCCATC 0.522 NA 18 38 0 0 0.012319 0 0 INADL 10207 broad.mit.edu 37 1 62613980 62613980 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:62613980G>T uc001dab.2 + 42 5410 c.5296G>T c.(5296-5298)GCC>TCC p.A1766S INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.A550S NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1766 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 CAATATAAGCGCCATAGCAGC 0.383 NA 22 51 3.28513e-13 4.33805e-13 0.021523 1 0 DNASE2B 58511 broad.mit.edu 37 1 84880520 84880520 + Missense_Mutation SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:84880520G>A uc001djt.1 + 6 1088 c.1055G>A c.(1054-1056)GGA>GAA p.G352E DNASE2B_uc001dju.1_Missense_Mutation_p.G144E|DNASE2B_uc009wch.1_Missense_Mutation_p.G144E NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta isoform 1 precursor 352 DNA metabolic process lysosome deoxyribonuclease II activity 0 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) GCATTTCAAGGATTAGTATTA 0.393 Pancreas(54;788 1175 11852 16034 30034) NA Direct_reversal_of_damage 4 14 0 0 0.009096 0 0 OR6K3 391114 broad.mit.edu 37 1 158687501 158687501 + Silent SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:158687501G>A uc010pip.1 - 1 453 c.453C>T c.(451-453)ATC>ATT p.I151I NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 151 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GGGGGGTCATGATCATTTGAT 0.498 NA 26 62 0 0 0.034045 0 0 PBX1 5087 broad.mit.edu 37 1 164768988 164768988 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:164768988G>T uc001gct.2 + 4 821 c.563G>T c.(562-564)CGG>CTG p.R188L PBX1_uc010pku.1_Missense_Mutation_p.R188L|PBX1_uc010pkv.1_Missense_Mutation_p.R105L|PBX1_uc001gcs.2_Missense_Mutation_p.R188L|PBX1_uc010pkw.1_Missense_Mutation_p.R78L NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 188 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 GAGCAAAGCCGGACCAGGCCC 0.567 NA T TCF3|EWSR1 pre B-ALL|myoepithelioma 16 39 0.000566183 0.000589059 0.0333 1 0 SELL 6402 broad.mit.edu 37 1 169677576 169677577 + Missense_Mutation DNP CC CC AA TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:169677576_169677577CC>AA uc001ggk.2 - 3 651_652 c.453_454GG>TT c.(451-456)AAGGCA>AATTCA p.151_152KA>NS C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.104_105KA>NS|SELL_uc001ggl.1_Missense_Mutation_p.164_165KA>NS NM_000655 NP_000646 P14151 LYAM1_HUMAN selectin L precursor 151_152 C-type lectin.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding 0 all_hematologic(923;0.208) CAGAGGGCTGCCTTTAGTTTGT 0.49 NA 23 41 0 0 0.004672 0 0 CFHR2 3080 broad.mit.edu 37 1 196927176 196927176 + Missense_Mutation SNP C C G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:196927176C>G uc001gtq.1 + 4 663 c.586C>G c.(586-588)CAA>GAA p.Q196E CFHR2_uc001gtr.1_Missense_Mutation_p.Q72E NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 196 Sushi 3. extracellular region skin(2)|ovary(1) 3 TAGAAACGGACAATGGTCAGA 0.368 NA 17 45 0 0 0.008871 0 0 PRELP 5549 broad.mit.edu 37 1 203452824 203452824 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:203452824G>T uc001gzs.2 + 2 712 c.512G>T c.(511-513)CGG>CTG p.R171L PRELP_uc001gzt.2_Missense_Mutation_p.R171L NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 171 LRR 4. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) GCCCTGCCCCGGAACCTGGAG 0.597 NA 28 56 1.74807e-11 2.19575e-11 0.010818 1 0 ATP2B4 493 broad.mit.edu 37 1 203708726 203708726 + Missense_Mutation SNP C C G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:203708726C>G uc001gzw.2 + 21 4246 c.3362C>G c.(3361-3363)CCC>CGC p.P1121R ATP2B4_uc001gzv.2_3'UTR|ATP2B4_uc001gzx.2_Missense_Mutation_p.P188R|ATP2B4_uc009xar.2_3'UTR NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 1157 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) ATTCAGAAACCCTACAACCAA 0.483 NA 16 51 0 0 0.008871 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204415219 204415219 + Missense_Mutation SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:204415219G>A uc001haw.2 - 17 3022 c.2543C>T c.(2542-2544)TCG>TTG p.S848L PIK3C2B_uc010pqv.1_Missense_Mutation_p.S848L NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 848 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCTCACCTCCGAGTGGCAGTA 0.622 NA OREG0014135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 51 0 0 0.012213 0 0 ZNF670 93474 broad.mit.edu 37 1 247202725 247202725 + Silent SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:247202725G>A uc001icd.1 - 2 289 c.118C>T c.(118-120)CTG>TTG p.L40L ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron NM_033213 NP_149990 Q9BS34 ZN670_HUMAN zinc finger protein 670 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) ACAGAAGCCAGGTTCCTGAAG 0.343 NA 16 33 0 0 0.008871 0 0 OR2M5 127059 broad.mit.edu 37 1 248308974 248308974 + Silent SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:248308974C>A uc010pze.1 + 1 525 c.525C>A c.(523-525)GCC>GCA p.A175A NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GGGAAATAGCCCACTTCTTCT 0.428 NA 53 174 3.45129e-13 4.49978e-13 0.01441 1 0 A1CF 29974 broad.mit.edu 37 10 52601733 52601733 + Missense_Mutation SNP A A T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr10:52601733A>T uc001jjj.2 - 5 442 c.254T>A c.(253-255)ATG>AAG p.M85K A1CF_uc010qhn.1_Missense_Mutation_p.M93K|A1CF_uc001jji.2_Missense_Mutation_p.M85K|A1CF_uc001jjh.2_Missense_Mutation_p.M93K|A1CF_uc010qho.1_Missense_Mutation_p.M93K|A1CF_uc009xov.2_Missense_Mutation_p.M85K|A1CF_uc001jjk.1_Missense_Mutation_p.M85K NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 85 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 CATCATTCTCATTTCATAAAT 0.284 NA 5 8 0 0 0.014758 0 0 KCNMA1 3778 broad.mit.edu 37 10 78771737 78771737 + Missense_Mutation SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr10:78771737C>A uc001jxn.2 - 18 2257 c.2080G>T c.(2080-2082)GGC>TGC p.G694C KCNMA1_uc001jxj.2_Missense_Mutation_p.G698C|KCNMA1_uc001jxk.1_Missense_Mutation_p.G309C|KCNMA1_uc009xrt.1_Missense_Mutation_p.G514C|KCNMA1_uc001jxl.1_Missense_Mutation_p.G348C|KCNMA1_uc001jxo.2_Missense_Mutation_p.G694C|KCNMA1_uc001jxm.2_Missense_Mutation_p.G694C|KCNMA1_uc001jxq.2_Missense_Mutation_p.G694C NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 694 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CGTTTGCAGCCACATTTTTTT 0.413 NA 8 29 0.00829132 0.0084555 0.008291 1 0 LGI1 9211 broad.mit.edu 37 10 95549922 95549922 + Silent SNP A A T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr10:95549922A>T uc001kjc.3 + 5 834 c.498A>T c.(496-498)ACA>ACT p.T166T LGI1_uc010qnv.1_Silent_p.T118T|LGI1_uc001kjd.3_Silent_p.T166T|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 166 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) ATTCTTTAACAAATGTGTAAG 0.303 NA 5 11 0 0 0.02938 0 0 TCTN3 26123 broad.mit.edu 37 10 97442454 97442454 + Missense_Mutation SNP T T A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr10:97442454T>A uc001klb.3 - 12 1650 c.1406A>T c.(1405-1407)CAG>CTG p.Q469L TCTN3_uc001kla.3_Missense_Mutation_p.Q313L|TCTN3_uc010qoi.1_Missense_Mutation_p.Q321L NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 469 Extracellular (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) CCCTCCTTTCTGGGCTGGGTC 0.468 NA 44 90 0 0 0.01441 0 0 PDZD8 118987 broad.mit.edu 37 10 119043640 119043640 + Silent SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr10:119043640C>T uc001lde.1 - 5 2803 c.2604G>A c.(2602-2604)CAG>CAA p.Q868Q NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 868 Phorbol-ester/DAG-type. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) AAAACATACACTGGGAAGCTG 0.393 NA 14 35 0 0 0.007413 0 0 OR5AS1 219447 broad.mit.edu 37 11 55797982 55797982 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr11:55797982G>T uc010riw.1 + 1 88 c.88G>T c.(88-90)GTA>TTA p.V30L NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) ACTGTTCTTGGTATTCCTTCT 0.328 NA 7 17 3.09899e-07 3.54662e-07 0.004482 1 0 CPSF7 79869 broad.mit.edu 37 11 61183946 61183946 + Missense_Mutation SNP T T A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr11:61183946T>A uc001nrq.2 - 6 730 c.596A>T c.(595-597)GAT>GTT p.D199V CPSF7_uc001nro.2_Missense_Mutation_p.D190V|CPSF7_uc001nrp.2_Missense_Mutation_p.D242V|CPSF7_uc001nrr.2_Missense_Mutation_p.D190V|CPSF7_uc001nrs.1_Missense_Mutation_p.D100V NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 199 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 GGCCCGTCCATCAGCAGAATC 0.537 NA 49 104 0 0 0.01441 0 0 FADS3 3995 broad.mit.edu 37 11 61644995 61644995 + Silent SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr11:61644995G>A uc001nsm.2 - 7 1026 c.873C>T c.(871-873)TGC>TGT p.C291C FADS3_uc001nsn.2_Silent_p.C167C NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 291 Lumenal (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 CCCACTGCATGCACACCAGCA 0.627 NA 18 45 0 0 0.014323 0 0 PCNXL3 399909 broad.mit.edu 37 11 65397824 65397824 + Missense_Mutation SNP A A T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr11:65397824A>T uc001oey.2 + 27 4219 c.4219A>T c.(4219-4221)ACT>TCT p.T1407S PCNXL3_uc001oez.2_Missense_Mutation_p.T294S NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1407 integral to membrane 0 CTCCACAGGCACTTACTGCCA 0.627 NA 10 27 0 0 0.010729 0 0 ODZ4 26011 broad.mit.edu 37 11 78380978 78380978 + Missense_Mutation SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr11:78380978C>T uc001ozl.3 - 32 6875 c.6412G>A c.(6412-6414)GTC>ATC p.V2138I ODZ4_uc001ozk.3_Missense_Mutation_p.V363I|ODZ4_uc009yvb.1_Missense_Mutation_p.V722I NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2138 Extracellular (Potential).|YD 15. signal transduction integral to membrane ovary(2)|pancreas(2) 4 TGGGTCATGACAGCTGTGGTG 0.453 NA 8 28 0 0 0.010729 0 0 KLHL1 57626 broad.mit.edu 37 13 70681634 70681634 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr13:70681634G>T uc001vip.2 - 1 992 c.198C>A c.(196-198)AGC>AGA p.S66R KLHL1_uc010thm.1_Missense_Mutation_p.S66R|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 66 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCCAGAAAGTGCTCACACCGC 0.448 NA 18 45 1.28384e-07 1.48579e-07 0.012319 1 0 LIG4 3981 broad.mit.edu 37 13 108862925 108862925 + Missense_Mutation SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr13:108862925G>A uc001vqn.2 - 2 965 c.692C>T c.(691-693)CCT>CTT p.P231L LIG4_uc001vqo.2_Missense_Mutation_p.P231L|LIG4_uc010agg.1_Missense_Mutation_p.P164L|LIG4_uc010agf.2_Missense_Mutation_p.P231L|LIG4_uc001vqp.2_Missense_Mutation_p.P231L NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 231 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TCCTACAGAAGGATCATGCAG 0.363 NA NHEJ 4 11 0 0 0.009096 0 0 MUDENG 55745 broad.mit.edu 37 14 57752960 57752960 + Missense_Mutation SNP A A G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr14:57752960A>G uc001xcv.2 + 7 1740 c.1313A>G c.(1312-1314)GAT>GGT p.D438G MUDENG_uc010tri.1_Missense_Mutation_p.D192G|MUDENG_uc010trj.1_Missense_Mutation_p.D335G NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 438 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 AGGATCTTAGATTACACACTT 0.338 NA 19 33 0 0 0.016522 0 0 YLPM1 56252 broad.mit.edu 37 14 75248810 75248810 + Silent SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr14:75248810G>T uc001xqj.3 + 4 2188 c.2064G>T c.(2062-2064)CCG>CCT p.P688P YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ACCATCCTCCGTTGCAATCAG 0.493 NA 12 25 4.3838e-07 4.90795e-07 0.016723 1 0 SLC24A4 123041 broad.mit.edu 37 14 92922777 92922777 + Silent SNP T T A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr14:92922777T>A uc001yak.2 + 12 1053 c.1029T>A c.(1027-1029)GGT>GGA p.G343G SLC24A4_uc001yai.2_Silent_p.G296G|SLC24A4_uc010twm.1_Silent_p.G341G|SLC24A4_uc001yaj.2_Silent_p.G324G|SLC24A4_uc010auj.2_Silent_p.G232G|SLC24A4_uc010twn.1_Silent_p.G116G|SLC24A4_uc001yan.2_Silent_p.G54G NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 360 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CGGCCAATGGTGTGAGCAGTA 0.527 NSCLC(10;315 435 10383 28450 38798) NA OREG0022876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 32 0 0 0.006122 0 0 AHNAK2 113146 broad.mit.edu 37 14 105421945 105421945 + Missense_Mutation SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr14:105421945G>A uc010axc.1 - 5 461 c.341C>T c.(340-342)ACG>ATG p.T114M AHNAK2_uc001ypx.2_Missense_Mutation_p.T14M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 114 PDZ. nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTCTTCAGCGTCACCTCTGT 0.602 NA 35 54 0 0 0.010771 0 0 OCA2 4948 broad.mit.edu 37 15 28090122 28090122 + Silent SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr15:28090122G>A uc001zbh.3 - 23 2525 c.2415C>T c.(2413-2415)TCC>TCT p.S805S OCA2_uc010ayv.2_Silent_p.S781S NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 805 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ATTCCATGAAGGAGAACCCAT 0.358 NA Oculocutaneous_Albinism 8 21 0 0 0.004482 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215688 50215688 + Missense_Mutation SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr15:50215688C>T uc001zxu.2 - 17 1788 c.1646G>A c.(1645-1647)CGA>CAA p.R549Q ATP8B4_uc010ber.2_Missense_Mutation_p.R422Q|ATP8B4_uc010ufd.1_Missense_Mutation_p.R359Q|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 549 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTCTGGGTTTCGAACTGAAAA 0.378 NA 6 11 0 0 0.038147 0 0 AP3B2 8120 broad.mit.edu 37 15 83331888 83331888 + Silent SNP C C G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr15:83331888C>G uc010uoh.1 - 21 2715 c.2538G>C c.(2536-2538)CTG>CTC p.L846L AP3B2_uc010uoi.1_Silent_p.L865L|AP3B2_uc010uoj.1_Silent_p.L814L|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.L482L NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 846 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CCGACGGTACCAGGGTGGAGT 0.632 NA 4 20 0 0 0.009096 0 0 KIAA0182 23199 broad.mit.edu 37 16 85682236 85682236 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr16:85682236G>T uc002fix.2 + 3 379 c.305G>T c.(304-306)CGC>CTC p.R102L KIAA0182_uc002fiw.2_5'UTR|KIAA0182_uc002fiy.2_Missense_Mutation_p.R29L NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 102 protein binding large_intestine(3)|ovary(1)|skin(1) 5 ACACCCAAGCGCGTGCCCATG 0.677 NA 35 80 6.29468e-14 8.42016e-14 0.021022 1 0 YBX2 51087 broad.mit.edu 37 17 7194462 7194462 + Missense_Mutation SNP T T A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr17:7194462T>A uc002gfq.2 - 4 466 c.409A>T c.(409-411)AGC>TGC p.S137C NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 137 CSD.|Required for cytoplasmic retention (By similarity). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 TCTCCAACGCTGCGCAGAAAC 0.502 NA 20 50 0 0 0.021523 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8219099 8219099 + Missense_Mutation SNP T T G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr17:8219099T>G uc002glc.2 + 8 1569 c.1448T>G c.(1447-1449)GTG>GGG p.V483G ARHGEF15_uc002gld.2_Missense_Mutation_p.V483G|ARHGEF15_uc010vuw.1_Missense_Mutation_p.V372G NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 483 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CTGTCCCGTGTGCGCTCTTCC 0.572 NA 13 31 0 0 0.028581 0 0 MYH3 4621 broad.mit.edu 37 17 10543512 10543512 + Missense_Mutation SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr17:10543512C>A uc002gmq.1 - 21 2560 c.2483G>T c.(2482-2484)TGG>TTG p.W828L NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 828 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CATCCAGGGCCAGTGCTTGAC 0.458 NA 14 34 4.7546e-09 5.83005e-09 0.028581 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39253953 39253953 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr17:39253953G>T uc010wfo.1 - 1 423 c.384C>A c.(382-384)AGC>AGA p.S128R NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 128 21.|25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament 0 agatgctgcagctggggcggc 0.109 NA 3 17 5.18039e-06 5.67639e-06 0.038147 1 0 TANC2 26115 broad.mit.edu 37 17 61391778 61391778 + Missense_Mutation SNP A A G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr17:61391778A>G uc002jal.3 + 8 990 c.967A>G c.(967-969)ATC>GTC p.I323V TANC2_uc010wpe.1_Missense_Mutation_p.I233V NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 323 binding ovary(2) 2 GCCTCCAGATATCTCCTTGAA 0.428 NA 11 32 0 0 0.028581 0 0 C19orf21 126353 broad.mit.edu 37 19 757800 757800 + Missense_Mutation SNP C C G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:757800C>G uc002lpo.2 + 2 937 c.854C>G c.(853-855)CCG>CGG p.P285R NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 285 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGAGTCCCCGGGGACCCCC 0.657 NA 3 56 0 0 0.009096 0 0 ARRDC5 645432 broad.mit.edu 37 19 4902698 4902698 + Missense_Mutation SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:4902698C>T uc002mbm.2 - 1 182 c.182G>A c.(181-183)AGG>AAG p.R61K NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 61 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) GACGTAACCCCTTCCCACGAG 0.498 NA 8 113 0 0 0.004482 0 0 ZNF91 7644 broad.mit.edu 37 19 23543480 23543480 + Silent SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:23543480C>T uc002nre.2 - 4 2414 c.2301G>A c.(2299-2301)GAG>GAA p.E767E ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.E735E NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 767 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGAAGGGTTTCTCTCTAGTAT 0.373 NA 14 18 0 0 0.008871 0 0 LGI4 163175 broad.mit.edu 37 19 35617312 35617312 + Silent SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:35617312G>T uc002nxx.2 - 8 1755 c.1161C>A c.(1159-1161)CCC>CCA p.P387P LGI4_uc002nxy.1_Silent_p.P215P|LGI4_uc002nxz.1_Silent_p.P215P NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 387 EAR 2. extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GGAAGAGCACGGGCCGCTGGG 0.706 NA 7 13 1.06961e-07 1.25193e-07 0.038147 1 0 LTBP4 8425 broad.mit.edu 37 19 41115743 41115743 + Silent SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:41115743C>T uc002ooh.1 + 14 1851 c.1851C>T c.(1849-1851)GGC>GGT p.G617G LTBP4_uc002oog.1_Silent_p.G580G|LTBP4_uc002ooi.1_Silent_p.G550G|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 617 Cys-rich.|EGF-like 4; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGGCCCGGGCTTCCGAGCCG 0.697 NA 5 10 0 0 0.014758 0 0 CRX 1406 broad.mit.edu 37 19 48342877 48342877 + Missense_Mutation SNP T T C TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:48342877T>C uc002phq.3 + 4 757 c.553T>C c.(553-555)TCT>CCT p.S185P NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 185 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CTCAGGGCCGTCTCTGACCTC 0.672 Pancreas(57;461 1196 22201 40716 47188) NA 9 29 0 0 0.004482 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933995 49933995 + Silent SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:49933995G>A uc002pnp.2 - 12 1636 c.1464C>T c.(1462-1464)GTC>GTT p.V488V SLC17A7_uc002pno.2_Silent_p.V150V NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 488 Helical; (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CAGAAGCAAAGACCCCGTAGA 0.582 NA 21 54 0 0 0.01892 0 0 ZNF761 388561 broad.mit.edu 37 19 53959831 53959831 + Silent SNP T T C TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:53959831T>C uc010eqp.2 + 7 2528 c.2070T>C c.(2068-2070)TAT>TAC p.Y690Y ZNF761_uc010ydy.1_Silent_p.Y636Y|ZNF761_uc002qbt.1_Silent_p.Y636Y NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 690 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) AGAAACCTTATAAGTGTAATG 0.393 NA 4 64 0 0 0.02938 0 0 ZNF329 79673 broad.mit.edu 37 19 58640680 58640680 + Missense_Mutation SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr19:58640680C>T uc002qrn.2 - 4 428 c.191G>A c.(190-192)TGT>TAT p.C64Y ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) AGGATATTCACAAATTGCTTC 0.473 NA 8 34 0 0 0.004482 0 0 MEMO1 51072 broad.mit.edu 37 2 32117109 32117109 + Missense_Mutation SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr2:32117109C>A uc002rnx.2 - 6 914 c.532G>T c.(532-534)GCG>TCG p.A178S MEMO1_uc010ymu.1_Missense_Mutation_p.A155S|MEMO1_uc010ezq.2_Missense_Mutation_p.A178S|MEMO1_uc002rny.2_Intron|MEMO1_uc002rnz.2_RNA NM_015955 NP_057039 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 isoform 1 178 regulation of microtubule-based process cytosol|nucleus ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) CTAGGATCCGCTAGATATTTA 0.363 NA 16 39 5.3912e-06 5.8452e-06 0.006122 1 0 BIRC6 57448 broad.mit.edu 37 2 32738056 32738056 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr2:32738056G>T uc010ezu.2 + 54 10537 c.10403G>T c.(10402-10404)AGA>ATA p.R3468I NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3468 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GCTATGAAGAGAAGTGGCAGG 0.413 Pancreas(94;175 1509 16028 18060 45422) NA 8 17 7.48243e-07 8.28699e-07 0.006214 1 0 DDX18 8886 broad.mit.edu 37 2 118586916 118586916 + Missense_Mutation SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr2:118586916G>A uc002tlh.1 + 13 1843 c.1744G>A c.(1744-1746)GCA>ACA p.A582T NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 582 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 AGCCCAGGAAGCATATAAGTC 0.323 NA 3 53 0 0 0.02938 0 0 PTPN4 5775 broad.mit.edu 37 2 120639678 120639678 + Missense_Mutation SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr2:120639678C>T uc002tmf.1 + 7 1190 c.419C>T c.(418-420)CCC>CTC p.P140L PTPN4_uc010flj.1_5'UTR NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 140 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) ATTAGATTACCCTGTCCTTCT 0.333 NA 22 55 0 0 0.016522 0 0 LRP2 4036 broad.mit.edu 37 2 170002321 170002321 + Silent SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr2:170002321C>T uc002ues.2 - 70 13137 c.12924G>A c.(12922-12924)ACG>ACA p.T4308T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4308 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCACTACCAGCGTTTTCTCTT 0.388 NA 13 37 0 0 0.020292 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801342 185801342 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr2:185801342G>T uc002uph.2 + 4 1813 c.1219G>T c.(1219-1221)GTT>TTT p.V407F NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 407 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TACTGAAGAGGTTAACATAAC 0.393 NA 14 19 3.27435e-08 3.87653e-08 0.020292 1 0 TRAK2 66008 broad.mit.edu 37 2 202252542 202252542 + Missense_Mutation SNP G G A rs142579315 TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr2:202252542G>A uc002uyb.3 - 13 2026 c.1580C>T c.(1579-1581)CCG>CTG p.P527L NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 527 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 GCTCTCTGTCGGGGTGACACA 0.488 NA 35 56 0 0 0.017118 0 0 CHRNG 1146 broad.mit.edu 37 2 233408313 233408313 + Silent SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr2:233408313G>A uc002vsx.1 + 9 960 c.939G>A c.(937-939)CTG>CTA p.L313L CHRNG_uc010fye.1_Silent_p.L261L NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 313 Helical; (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCTTCCTCCTGGTGGTGACCA 0.617 NA 13 25 0 0 0.028581 0 0 PLCB1 23236 broad.mit.edu 37 20 8737710 8737710 + Silent SNP A A G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr20:8737710A>G uc002wnb.2 + 24 2544 c.2541A>G c.(2539-2541)ACA>ACG p.T847T PLCB1_uc010zrb.1_Silent_p.T746T|PLCB1_uc002wna.2_Silent_p.T847T|PLCB1_uc002wnc.1_Silent_p.T746T|PLCB1_uc002wnd.1_Silent_p.T424T NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 847 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 CTGGAGAAACACCATCAGAGG 0.433 NA 6 28 0 0 0.021553 0 0 MKKS 8195 broad.mit.edu 37 20 10389284 10389284 + Nonsense_Mutation SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr20:10389284C>A uc002wnt.1 - 4 2040 c.1153G>T c.(1153-1155)GAG>TAG p.E385* MKKS_uc002wnu.1_Nonsense_Mutation_p.E385*|MKKS_uc010zrd.1_RNA NM_018848 NP_061336 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome protein 385 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding 0 ACCTTCAGCTCATCCCAGGCA 0.388 Melanoma(79;1979 2212 6640) NA Bardet-Biedl_syndrome 11 32 0.000151284 0.000159003 0.016723 1 0 ZNF341 84905 broad.mit.edu 37 20 32341111 32341111 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr20:32341111G>T uc002wzy.2 + 5 643 c.623G>T c.(622-624)GGG>GTG p.G208V ZNF341_uc002wzx.2_Missense_Mutation_p.G208V|ZNF341_uc010geq.2_Missense_Mutation_p.G118V|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GGCCCCCCTGGGCGTCCCAAC 0.443 NA 3 9 6.4e-05 6.79588e-05 0.004672 1 0 CHD6 84181 broad.mit.edu 37 20 40049350 40049350 + Silent SNP G G A rs113638490 byFrequency TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr20:40049350G>A uc002xka.1 - 31 6103 c.5925C>T c.(5923-5925)ATC>ATT p.I1975I NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1975 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CCTCCATGGCGATAGTATTGG 0.438 NA 38 86 0 0 0.033182 0 0 ZNRF3 84133 broad.mit.edu 37 22 29446751 29446751 + Missense_Mutation SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr22:29446751C>T uc003aeg.2 + 8 2447 c.2282C>T c.(2281-2283)CCG>CTG p.P761L ZNRF3_uc003aeh.1_Missense_Mutation_p.P761L NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 861 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 ACGCGAGGCCCGGATACCCCA 0.701 NA 5 9 0 0 0.014758 0 0 FOXRED2 80020 broad.mit.edu 37 22 36902321 36902321 + Missense_Mutation SNP T T A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr22:36902321T>A uc003apn.3 - 1 257 c.149A>T c.(148-150)CAG>CTG p.Q50L FOXRED2_uc003apo.3_Missense_Mutation_p.Q50L|FOXRED2_uc003app.3_Missense_Mutation_p.Q50L NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 50 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 TCCAGCGCGCTGCAGGAAGTA 0.711 NA 7 11 0 0 0.038147 0 0 CHCHD4 131474 broad.mit.edu 37 3 14154427 14154427 + Missense_Mutation SNP A A G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr3:14154427A>G uc003byj.3 - 3 584 c.389T>C c.(388-390)ATT>ACT p.I130T CHCHD4_uc003byi.3_Missense_Mutation_p.I143T NM_001098502 NP_001091972 Q8N4Q1 MIA40_HUMAN coiled-coil-helix-coiled-coil-helix domain 130 protein transport|transmembrane transport mitochondrial intermembrane space 0 AGTGGCCTCAATGGGAGCTGT 0.363 NA 4 10 0 0 0.014758 0 0 MAP4 4134 broad.mit.edu 37 3 47958147 47958147 + Silent SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr3:47958147C>T uc003csb.2 - 7 1696 c.1170G>A c.(1168-1170)TTG>TTA p.L390L MAP4_uc003csc.3_Silent_p.L390L|MAP4_uc011bbf.1_Silent_p.L367L|MAP4_uc003csf.3_Silent_p.L407L NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 390 17 X 14 AA tandem repeats.|26 residues 2. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGAGCCAAGTCCATTT 0.448 NA 4 118 0 0 0.014758 0 0 PHF7 51533 broad.mit.edu 37 3 52448547 52448547 + Nonsense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr3:52448547G>T uc003ddy.2 + 4 936 c.130G>T c.(130-132)GAA>TAA p.E44* PHF7_uc003ddz.2_Nonsense_Mutation_p.E44* NM_016483 NP_057567 Q9BWX1 PHF7_HUMAN PHD finger protein 7 isoform 1 44 nucleus zinc ion binding breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) TGGGGATCCCGAAAAATTAGG 0.433 NA 21 72 5.26018e-13 6.77248e-13 0.012319 1 0 PIK3CA 5290 broad.mit.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr3:178938934G>A uc003fjk.2 + 14 2333 c.2176G>A c.(2176-2178)GAA>AAA p.E726K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 726 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.E726K(2) 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) GAAGAAGGATGAAACACAAAA 0.363 Colon(199;1504 1750 3362 26421 31210 32040) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 14 27 0 0 0.028581 0 0 ODZ3 55714 broad.mit.edu 37 4 183696138 183696138 + Silent SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr4:183696138G>A uc003ivd.1 + 23 5173 c.5136G>A c.(5134-5136)CTG>CTA p.L1712L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1712 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCAGTGGCCTGGACTCACACT 0.473 NA 3 17 0 0 0.004672 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140743981 140743981 + Silent SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr5:140743981C>T uc003lju.1 + 1 84 c.84C>T c.(82-84)TCC>TCT p.S28S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.S28S NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 28 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCAGGATCCGGGCAGATCC 0.657 NA 10 14 0 0 0.008291 0 0 SPRY4 81848 broad.mit.edu 37 5 141694060 141694060 + Missense_Mutation SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr5:141694060C>T uc003lml.2 - 2 873 c.614G>A c.(613-615)GGC>GAC p.G205D SPRY4_uc010jgi.1_Missense_Mutation_p.G228D NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 205 Cys-rich.|SPR. multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAGAAGATGCCCTGCACCAA 0.622 NA Testicular_Cancer_Familial_Clustering_of 13 26 0 0 0.020292 0 0 ZFP57 346171 broad.mit.edu 37 6 29640660 29640660 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr6:29640660G>T uc011dlw.1 - 4 1379 c.1228C>A c.(1228-1230)CCG>ACG p.P410T ZFP57_uc003nnl.3_Missense_Mutation_p.P390T NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 326 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 TAGTTGGGCGGCTCTGTGAGG 0.512 NA 15 148 3.32936e-07 3.7684e-07 0.006122 1 0 NOTCH4 4855 broad.mit.edu 37 6 32163539 32163539 + Missense_Mutation SNP T T A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr6:32163539T>A uc003obb.2 - 30 5826 c.5687A>T c.(5686-5688)CAT>CTT p.H1896L GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.H556L|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1896 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GCTCCGGCAATGAGAATAGGC 0.692 NA 9 29 0 0 0.004482 0 0 DST 667 broad.mit.edu 37 6 56351986 56351986 + Missense_Mutation SNP A A T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr6:56351986A>T uc003pdf.2 - 81 14634 c.14606T>A c.(14605-14607)CTG>CAG p.L4869Q DST_uc003pcz.3_Missense_Mutation_p.L4691Q|DST_uc011dxj.1_Missense_Mutation_p.L4720Q|DST_uc011dxk.1_Missense_Mutation_p.L4731Q|DST_uc003pcy.3_Missense_Mutation_p.L4365Q|DST_uc003pda.3_Missense_Mutation_p.L61Q NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6777 Spectrin 18. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTCATCAGCCAGGGAGGTTTT 0.423 NA 16 20 0 0 0.028581 0 0 ABCB5 340273 broad.mit.edu 37 7 20778661 20778661 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr7:20778661G>T uc003suw.3 + 15 2134 c.1588G>T c.(1588-1590)GCT>TCT p.A530S ABCB5_uc010kuh.2_Missense_Mutation_p.A975S NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 530 Cytoplasmic (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GCTCGTTTTGGCTCCTGAATA 0.433 NA 14 16 1.67942e-08 2.01139e-08 0.006122 1 0 PHKG1 5260 broad.mit.edu 37 7 56155447 56155447 + Missense_Mutation SNP G G C TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr7:56155447G>C uc003trz.1 - 3 301 c.106C>G c.(106-108)CGA>GGA p.R36G PSPH_uc003trj.2_Intron|PHKG1_uc011kdb.1_Missense_Mutation_p.R36G|PHKG1_uc011kdc.1_Missense_Mutation_p.R36G|PHKG1_uc011kdd.1_5'UTR NM_006213 NP_006204 Q16816 PHKG1_HUMAN phosphorylase kinase gamma subunit 1 36 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity large_intestine(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGGATGCATCGCCTGACCACA 0.657 Melanoma(184;580 2064 5329 24177 35303) NA 18 52 0 0 0.010504 0 0 TRRAP 8295 broad.mit.edu 37 7 98506438 98506438 + Silent SNP C C G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr7:98506438C>G uc003upp.2 + 14 1412 c.1203C>G c.(1201-1203)CTC>CTG p.L401L TRRAP_uc011kis.1_Silent_p.L401L|TRRAP_uc003upr.2_Silent_p.L93L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 401 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCGTCCAGCTCTTCGCCAAGA 0.647 NA 5 7 0 0 0.021553 0 0 DOCK4 9732 broad.mit.edu 37 7 111462421 111462421 + Missense_Mutation SNP T T C TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr7:111462421T>C uc003vfx.2 - 27 3196 c.2927A>G c.(2926-2928)AAC>AGC p.N976S DOCK4_uc003vfw.2_Missense_Mutation_p.N417S|DOCK4_uc003vfy.2_Missense_Mutation_p.N1012S NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 976 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) GTCTTACTTGTTAGCAACCAA 0.373 NA 6 18 0 0 0.02938 0 0 GPR85 54329 broad.mit.edu 37 7 112724502 112724502 + Missense_Mutation SNP A A G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr7:112724502A>G uc010ljv.2 - 2 792 c.275T>C c.(274-276)CTG>CCG p.L92P GPR85_uc003vgp.1_Missense_Mutation_p.L92P|GPR85_uc003vgq.2_Missense_Mutation_p.L92P|GPR85_uc010ljw.1_Missense_Mutation_p.L92P NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 92 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 TTTGCAAGTCAGAGTCCCATA 0.433 NA 21 46 0 0 0.027356 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr7:140453136A>T uc003vwc.3 - 15 1860 c.1799T>A c.(1798-1800)GTG>GAG p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368 Colon(40;35 892 2973 5743 27438) V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 13 25 0 0 0.0333 0 0 SSPO 23145 broad.mit.edu 37 7 149503054 149503054 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr7:149503054G>T uc010lpk.2 + 59 8558 c.8558G>T c.(8557-8559)CGT>CTT p.R2853L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2853 TSP type-1 8. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATCCAGACACGTGGGCGCAGC 0.637 NA 9 24 0.00621372 0.00640013 0.006214 1 0 RP1L1 94137 broad.mit.edu 37 8 10469767 10469767 + Missense_Mutation SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr8:10469767C>A uc003wtc.2 - 4 2070 c.1841G>T c.(1840-1842)GGC>GTC p.G614V NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 614 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCAGGAAAGGCCCAGAACCAG 0.622 NA 21 49 5.45024e-15 7.38651e-15 0.01892 1 0 NKX3-1 4824 broad.mit.edu 37 8 23538909 23538909 + Missense_Mutation SNP T T C TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr8:23538909T>C uc011kzx.1 - 2 578 c.530A>G c.(529-531)TAT>TGT p.Y177C NKX3-1_uc003xdv.1_Intron NM_006167 NP_006158 Q99801 NKX31_HUMAN NK3 homeobox 1 177 Homeobox. negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding 0 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) CTTAGTCTTATAGCGTCTGTT 0.582 NA 31 60 0 0 0.021022 0 0 KIAA1432 57589 broad.mit.edu 37 9 5753566 5753566 + Missense_Mutation SNP A A T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr9:5753566A>T uc003zji.2 + 13 1378 c.1285A>T c.(1285-1287)ATT>TTT p.I429F KIAA1432_uc003zjh.2_Missense_Mutation_p.I429F|KIAA1432_uc003zjl.3_Intron|KIAA1432_uc003zjj.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 508 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGGACAGAATATTGCTGTGGT 0.294 NA 12 16 0 0 0.0333 0 0 TMEM215 401498 broad.mit.edu 37 9 32784744 32784744 + Missense_Mutation SNP A A C TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr9:32784744A>C uc003zri.3 + 2 928 c.563A>C c.(562-564)GAG>GCG p.E188A NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 188 integral to membrane 0 GACAGATCTGAGTGCCCTGAG 0.542 NA 22 35 0 0 0.021523 0 0 FOXD4L5 653427 broad.mit.edu 37 9 70177104 70177104 + Missense_Mutation SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr9:70177104C>A uc010moc.2 - 1 1712 c.880G>T c.(880-882)GCA>TCA p.A294S NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN forkhead box D4-like 5 294 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 GGGAAGGGTGCCGGGGTCGCC 0.662 NA 8 90 6.44725e-10 8.00081e-10 0.014323 1 0 IL3RA 3563 broad.mit.edu 37 X 1464277 1464277 + Missense_Mutation SNP A A G TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chrX:1464277A>G uc004cps.2 + 3 482 c.133A>G c.(133-135)AGA>GGA p.R45G IL3RA_uc011mhd.1_Intron NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 45 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 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) Sargramostim(DB00020) GGACCTTAACAGAAATGTGAC 0.383 NA 46 93 0 0 0.01441 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177720 89177720 + Silent SNP C C A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chrX:89177720C>A uc004efe.2 + 2 685 c.636C>A c.(634-636)GCC>GCA p.A212A NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 212 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AGGAGCACGCCGACTTCAGCA 0.527 NA 13 16 1.5842e-08 1.91968e-08 0.016723 1 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chrX:140994960G>A uc004fbt.2 + 4 2056 c.1770G>A c.(1768-1770)CTG>CTA p.L590L MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567 NA HNSCC(15;0.026) 10 417 0 0 0.010729 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092402 151092402 + Missense_Mutation SNP G G A TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chrX:151092402G>A uc004fez.2 + 3 422 c.266G>A c.(265-267)AGC>AAC p.S89N MAGEA4_uc004ffa.2_Missense_Mutation_p.S89N|MAGEA4_uc004ffb.2_Missense_Mutation_p.S89N|MAGEA4_uc004ffc.2_Missense_Mutation_p.S89N|MAGEA4_uc004ffd.2_Missense_Mutation_p.S89N NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 89 protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAGGGTTCCAGCAGCCAAGAA 0.572 NA 24 41 0 0 0.027356 0 0 CAPN2 824 broad.mit.edu 37 1 223939704 223939713 + Frame_Shift_Del DEL CAAGCTGGAA CAAGCTGGAA - TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 CAAGCTGGAA CAAGCTGGAA - - CAAGCTGGAA CAAGCTGGAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr1:223939704_223939713delCAAGCTGGAA uc001hob.3 + 8 1129_1138 c.905_914delCAAGCTGGAA c.(904-915)CCAAGCTGGAACfs p.P302fs CAPN2_uc010puy.1_Frame_Shift_Del_p.P224fs NM_001748 NP_001739 P17655 CAN2_HUMAN calpain 2 isoform 1 302_305 Calpain catalytic. proteolysis cytoplasm|plasma membrane lung(3)|breast(1)|skin(1) 5 GBM - Glioblastoma multiforme(131;0.109) TCCAGCTGCCCAAGCTGGAACACTATAGAC 0.514 NA 8 61 --- --- --- --- NA NA NA NA NA PPP2R5B 5526 broad.mit.edu 37 11 64699334 64699334 + Frame_Shift_Del DEL T T - TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr11:64699334delT uc001oby.2 + 11 1695 c.1110delT c.(1108-1110)CATfs p.H370fs PPP2R5B_uc001obz.2_Frame_Shift_Del_p.H370fs NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 370 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 CCAGCCCCCATTTCCAGGTAT 0.552 NA 30 66 --- --- --- --- NA NA NA NA NA TXNRD1 7296 broad.mit.edu 37 12 104707093 104707093 + Frame_Shift_Del DEL G G - TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr12:104707093delG uc010swk.1 + 6 630 c.608delG c.(607-609)TGGfs p.W203fs TXNRD1_uc010swl.1_Frame_Shift_Del_p.W53fs|TXNRD1_uc010swm.1_Frame_Shift_Del_p.W105fs|TXNRD1_uc010swn.1_Frame_Shift_Del_p.W53fs|TXNRD1_uc010swo.1_Frame_Shift_Del_p.W53fs|TXNRD1_uc010swp.1_Frame_Shift_Del_p.W15fs|TXNRD1_uc010swq.1_Frame_Shift_Del_p.W103fs|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Frame_Shift_Del_p.W119fs|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_RNA NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 203 FAD (By similarity). cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 GGAACTAGATGGGGTAAGCTT 0.403 Ovarian(139;555 1836 9186 9946 10884) NA 2 4 --- --- --- --- NA NA NA NA NA GRIN2C 2905 broad.mit.edu 37 17 72842339 72842344 + In_Frame_Del DEL TTGCCT TTGCCT - TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 TTGCCT TTGCCT - - TTGCCT TTGCCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr17:72842339_72842344delTTGCCT uc002jlt.1 - 11 2367_2372 c.2211_2216delAGGCAA c.(2209-2217)GCAGGCAAG>GCG p.GK738del GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_In_Frame_Del_p.GK738del NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 738_739 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GCCCTCGTCCTTGCCTGCCATGTAGT 0.597 NA 34 69 --- --- --- --- NA NA NA NA NA SETD2 29072 broad.mit.edu 37 3 47098880 47098881 + Frame_Shift_Ins INS - - T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr3:47098880_47098881insT uc003cqs.2 - 15 6446_6447 c.6393_6394insA c.(6391-6396)CAACGGfs p.Q2131fs SETD2_uc003cqv.2_Frame_Shift_Ins_p.Q2198fs|SETD2_uc003cqt.1_RNA NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 2131_2132 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R1629fs*15(1) kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TGAGCCTCCCGTTGAGCCACCT 0.455 NA N|F|S|Mis clear cell renal carcinoma 28 88 --- --- --- --- NA NA NA NA NA SETD2 29072 broad.mit.edu 37 3 47163361 47163361 + Frame_Shift_Del DEL T T - TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr3:47163361delT uc003cqs.2 - 3 2818 c.2765delA c.(2764-2766)AAGfs p.K922fs SETD2_uc003cqv.2_Frame_Shift_Del_p.K911fs NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 922 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCCTGCATGCTTTAAAAACTC 0.413 NA N|F|S|Mis clear cell renal carcinoma 22 43 --- --- --- --- NA NA NA NA NA C3orf58 205428 broad.mit.edu 37 3 143691464 143691472 + In_Frame_Del DEL GCGAGCCCC GCGAGCCCC - TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 GCGAGCCCC GCGAGCCCC - - GCGAGCCCC GCGAGCCCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 75da25e4-927d-4bf6-ba40-54ac5c109b3c 53d2a678-c2c3-46ac-9b69-9e29bb392037 g.chr3:143691464_143691472delGCGAGCCCC uc003evo.2 + 1 825_833 c.290_298delGCGAGCCCC c.(289-300)GGCGAGCCCCGC>GGC p.EPR98del C3orf58_uc011bnl.1_5'Flank NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 98_100 COPI vesicle coat|extracellular region ovary(1) 1 GCGCAGTACGGCGAGCCCCGCGAGGGCGG 0.708 NA 8 67 --- --- --- --- NA NA NA NA NA