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 KANK4 163782 broad.mit.edu 37 1 62718834 62718834 + Missense_Mutation SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:62718834T>C uc001dah.3 - 8 2964 c.2587A>G c.(2587-2589)ATG>GTG p.M863V KANK4_uc001dai.3_Missense_Mutation_p.M235V|KANK4_uc001daf.3_Missense_Mutation_p.M1V|KANK4_uc001dag.3_Missense_Mutation_p.M219V NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 863 ANK 2. ovary(3)|skin(2)|lung(1) 6 GGAGTGATCATTACGGCAGTG 0.522 NA 42 68 0 0 0.011902 0 0 LPAR3 23566 broad.mit.edu 37 1 85331206 85331206 + Missense_Mutation SNP G G C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:85331206G>C uc001dkl.2 - 1 637 c.598C>G c.(598-600)CTC>GTC p.L200V LPAR3_uc009wcj.1_Missense_Mutation_p.L200V NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 200 Helical; Name=5; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 ACCATGATGAGGAAGGCCATG 0.537 NA 24 32 0 0 0.021523 0 0 CLCA2 9635 broad.mit.edu 37 1 86913287 86913287 + Missense_Mutation SNP C C G rs146994587 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:86913287C>G uc001dlr.3 + 11 1972 c.1810C>G c.(1810-1812)CCA>GCA p.P604A NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 604 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AGCTGTGCCCCCAGCCACTGT 0.498 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 47 66 0 0 0.01441 0 0 GBP4 115361 broad.mit.edu 37 1 89650951 89650951 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:89650951C>T uc001dnb.2 - 11 2025 c.1909G>A c.(1909-1911)GGC>AGC p.G637S NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 637 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) ATACGTGAGCCAAGATATTTT 0.348 NA 27 54 0 0 0.008361 0 0 RNPC3 55599 broad.mit.edu 37 1 104093592 104093592 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:104093592G>T uc010oul.1 + 13 1506 c.1391G>T c.(1390-1392)CGT>CTT p.R464L RNPC3_uc010oum.1_Missense_Mutation_p.R463L|RNPC3_uc010oun.1_Missense_Mutation_p.R464L|AMY2B_uc010ouo.1_RNA NM_017619 NP_060089 Q96LT9 RBM40_HUMAN RNA-binding region (RNP1, RRM) containing 3 464 RRM 2. mRNA processing U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163) AAAGAAGGTCGTATGAAAGGA 0.353 NA 18 38 5.35267e-07 9.28052e-07 0.007413 1 0 NGF 4803 broad.mit.edu 37 1 115829120 115829120 + Silent SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:115829120G>A uc001efu.1 - 3 466 c.297C>T c.(295-297)GAC>GAT p.D99D NM_002506 NP_002497 P01138 NGF_HUMAN nerve growth factor, beta polypeptide precursor 99 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding upper_aerodigestive_tract(2) 2 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GATCCTGAGTGTCTGCAGCTT 0.582 NA 11 25 0 0 0.013537 0 0 HRNR 388697 broad.mit.edu 37 1 152192466 152192466 + Nonsense_Mutation SNP G G A rs142288299 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:152192466G>A uc001ezt.1 - 3 1715 c.1639C>T c.(1639-1641)CGA>TGA p.R547* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 547 5. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTCATGTCGGCCACGGCTA 0.587 NA 16 342 0 0 0.024245 0 0 FCRL2 79368 broad.mit.edu 37 1 157740395 157740395 + Silent SNP G G A rs139205435 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:157740395G>A uc001fre.2 - 3 173 c.114C>T c.(112-114)TGC>TGT p.C38C FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.C38C|FCRL2_uc009wsp.2_Silent_p.C38C|FCRL2_uc010pia.1_Silent_p.C38C NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 38 Ig-like C2-type 1.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTTCTCCCTGGCATTTCAGAA 0.438 NA 14 69 0 0 0.016723 0 0 OR10K1 391109 broad.mit.edu 37 1 158436014 158436014 + Silent SNP C C A rs151132888 by1000genomes TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:158436014C>A uc010pij.1 + 1 663 c.663C>A c.(661-663)ATC>ATA p.I221I NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) ACATCCGCATCATCTCTGCCA 0.473 NA 45 140 1.61572e-30 3.74413e-30 0.010771 1 0 OR6K3 391114 broad.mit.edu 37 1 158687509 158687509 + Missense_Mutation SNP G G T rs144430951 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:158687509G>T uc010pip.1 - 1 445 c.445C>A c.(445-447)CAA>AAA p.Q149K NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 149 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) ATGATCATTTGATAGCGAAGA 0.498 NA 30 127 3.73988e-18 7.3878e-18 0.00632 1 0 AIM2 9447 broad.mit.edu 37 1 159036024 159036024 + Silent SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:159036024G>T uc001ftj.1 - 4 737 c.492C>A c.(490-492)CCC>CCA p.P164P NM_004833 NP_004824 O14862 AIM2_HUMAN absent in melanoma 2 164 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus ovary(2)|pancreas(1) 3 all_hematologic(112;0.0429) CAAACGTGAAGGGCTTCTTTG 0.438 NA 114 82 2.5327e-61 5.98412e-61 0.01441 1 0 USP21 27005 broad.mit.edu 37 1 161130689 161130689 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:161130689G>A uc010pke.1 + 3 636 c.259G>A c.(259-261)GGG>AGG p.G87R USP21_uc010pkc.1_Missense_Mutation_p.G87R|USP21_uc010pkd.1_Missense_Mutation_p.G87R|USP21_uc010pkf.1_Missense_Mutation_p.G87R NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 87 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGCAGATCATGGGGTTCCCCT 0.637 NA 43 35 0 0 0.00874 0 0 ADCY10 55811 broad.mit.edu 37 1 167874234 167874234 + Missense_Mutation SNP A A C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:167874234A>C uc001ger.2 - 2 443 c.145T>G c.(145-147)TCA>GCA p.S49A ADCY10_uc009wvk.2_5'UTR|ADCY10_uc010plj.1_Intron|ADCY10_uc009wvl.2_Missense_Mutation_p.S49A|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 49 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CACTTGCCTGAAATATCAACA 0.448 NA 15 92 0 0 0.007413 0 0 KCNT2 343450 broad.mit.edu 37 1 196311313 196311313 + Silent SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:196311313T>C uc001gtd.1 - 15 1509 c.1449A>G c.(1447-1449)AGA>AGG p.R483R KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Silent_p.R483R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.R483R|KCNT2_uc001gth.1_Silent_p.R4R NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 483 Cytoplasmic (Potential).|RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TCCCGGAGCATCTACCGTACA 0.348 NA 69 48 0 0 0.01441 0 0 CNTN2 6900 broad.mit.edu 37 1 205031637 205031637 + Nonsense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:205031637C>T uc001hbr.2 + 10 1449 c.1180C>T c.(1180-1182)CAG>TAG p.Q394* CNTN2_uc001hbq.1_Nonsense_Mutation_p.Q285*|CNTN2_uc001hbs.2_Nonsense_Mutation_p.Q182* NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 394 Ig-like C2-type 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGGCATGTACCAGTGTGTGGC 0.622 Melanoma(183;2548 2817 37099 41192) NA 19 91 0 0 0.008871 0 0 OR2W5 441932 broad.mit.edu 37 1 247654619 247654619 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:247654619G>A uc001icz.1 + 1 190 c.190G>A c.(190-192)GGG>AGG p.G64R NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTTCTTTCTTGGGAATCTGTC 0.522 NA 46 31 0 0 0.013114 0 0 FRMD4A 55691 broad.mit.edu 37 10 13735983 13735983 + Silent SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr10:13735983C>A uc001ims.2 - 15 1384 c.1032G>T c.(1030-1032)ACG>ACT p.T344T FRMD4A_uc009xjf.1_Silent_p.T344T|FRMD4A_uc001imt.1_Silent_p.T377T|FRMD4A_uc001imu.1_Silent_p.T360T NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 344 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 TCAGCGTCCCCGTCTCGGTCA 0.582 NA 34 34 7.04047e-22 1.50155e-21 0.023175 1 0 STAM 8027 broad.mit.edu 37 10 17746987 17746987 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr10:17746987G>T uc001ipj.1 + 11 1235 c.1019G>T c.(1018-1020)GGA>GTA p.G340V STAM_uc009xjw.1_Intron NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 340 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 CACCAGATGGGACCTCTCATT 0.328 NA 29 80 1.99505e-19 4.0404e-19 0.012213 1 0 ANK3 288 broad.mit.edu 37 10 61946575 61946575 + Silent SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr10:61946575G>A uc001jky.2 - 17 2175 c.1983C>T c.(1981-1983)ACC>ACT p.T661T ANK3_uc010qih.1_Silent_p.T644T|ANK3_uc001jkz.3_Silent_p.T655T|ANK3_uc001jlb.1_Silent_p.T190T|ANK3_uc001jlc.1_Silent_p.T322T NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 661 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTCCTTGCCGGGTAACTGCGT 0.522 NA 27 51 0 0 0.007291 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72434362 72434363 + Missense_Mutation DNP AG AG TT TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr10:72434362_72434363AG>TT uc001jrh.2 + 2 133_134 c.133_134AG>TT c.(133-135)AGC>TTC p.S45F ADAMTS14_uc001jrg.2_Missense_Mutation_p.S45F NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 45 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 AGTGCCCTGCAGCACAGACTTT 0.564 NA 29 45 0 0 0.004672 0 0 CHST3 9469 broad.mit.edu 37 10 73767095 73767095 + Silent SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr10:73767095C>T uc001jsn.2 + 3 746 c.306C>T c.(304-306)GGC>GGT p.G102G NM_004273 NP_004264 Q7LGC8 CHST3_HUMAN chondroitin 6-sulfotransferase 3 102 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity 0 TGCAGCTGGGCGTGGAGCCAG 0.652 NA 7 3 0 0 0.001984 0 0 SORCS3 22986 broad.mit.edu 37 10 106974237 106974237 + Missense_Mutation SNP C C G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr10:106974237C>G uc001kyi.1 + 18 2640 c.2413C>G c.(2413-2415)CTA>GTA p.L805V SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 805 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CACAGATGGGCTAAGGGAGAA 0.537 NSCLC(116;1497 1690 7108 13108 14106) NA 26 41 0 0 0.024334 0 0 OR51B2 79345 broad.mit.edu 37 11 5344806 5344806 + Missense_Mutation SNP G G C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr11:5344806G>C uc001mao.1 - 1 777 c.722C>G c.(721-723)TCC>TGC p.S241C HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTAATGTGGGAGATACAGGT 0.398 NA 23 45 0 0 0.012319 0 0 OR2D3 120775 broad.mit.edu 37 11 6942250 6942250 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr11:6942250G>T uc010rav.1 + 1 18 c.18G>T c.(16-18)TTG>TTT p.L6F NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTTTTTTCTTGTGCCAAACAG 0.398 NA 22 42 7.88262e-20 1.62369e-19 0.01892 1 0 TPH1 7166 broad.mit.edu 37 11 18048162 18048162 + Silent SNP A A T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr11:18048162A>T uc001mnp.2 - 6 704 c.678T>A c.(676-678)GGT>GGA p.G226G TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 226 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) GGATGGAAAAACCTGTACGCT 0.418 NA 23 30 0 0 0.021523 0 0 OR4C15 81309 broad.mit.edu 37 11 55322011 55322011 + Nonsense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr11:55322011G>T uc010rig.1 + 1 229 c.229G>T c.(229-231)GAA>TAA p.E77* NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 23 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAATGTTCAGGAAATAGTATT 0.418 NA HNSCC(20;0.049) 58 88 3.21867e-24 7.24954e-24 0.01441 1 0 OR5T2 219464 broad.mit.edu 37 11 55999867 55999867 + Silent SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr11:55999867C>T uc010rjc.1 - 1 795 c.795G>A c.(793-795)CTG>CTA p.L265L NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 265 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AATACATCTTCAGAATGGCCA 0.433 NA 49 85 0 0 0.01441 0 0 OR5T3 390154 broad.mit.edu 37 11 56020505 56020505 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr11:56020505G>T uc010rjd.1 + 1 830 c.830G>T c.(829-831)GGA>GTA p.G277V NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 277 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) CACCTAACTGGAGTGACAATT 0.403 NA 54 98 6.4308e-24 1.42186e-23 0.01441 1 0 PDE2A 5138 broad.mit.edu 37 11 72291952 72291952 + Missense_Mutation SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr11:72291952T>C uc010rrc.1 - 24 2354 c.2111A>G c.(2110-2112)AAC>AGC p.N704S PDE2A_uc001oso.2_Missense_Mutation_p.N683S|PDE2A_uc010rra.1_Missense_Mutation_p.N697S|PDE2A_uc001osn.2_Missense_Mutation_p.N448S|PDE2A_uc010rrb.1_Missense_Mutation_p.N695S|PDE2A_uc010rrd.1_Missense_Mutation_p.N589S NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 704 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GAAAGAGTTGTTTGTGCCTCT 0.532 NA 15 32 0 0 0.008871 0 0 KRT83 3889 broad.mit.edu 37 12 52710805 52710805 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr12:52710805C>A uc001saf.2 - 5 816 c.753G>T c.(751-753)GAG>GAT p.E251D NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 251 Rod.|Coil 1B. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GAATGCGGATCTCCTGCAGGA 0.532 GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861) NA 23 58 4.26978e-12 7.91551e-12 0.01892 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54905735 54905735 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr12:54905735G>A uc001sgc.3 + 9 866 c.787G>A c.(787-789)GGG>AGG p.G263R NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.G213R NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 263 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 ACCTACAGTTGGGTTTCTTCT 0.463 NA 37 62 0 0 0.023175 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678501 37678501 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr13:37678501C>A uc001uwm.1 - 1 1301 c.893G>T c.(892-894)TGG>TTG p.W298L NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 298 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) TAACATCGTCCAATCAAATGT 0.498 NA 37 86 2.19358e-23 4.80593e-23 0.023175 1 0 PCDH17 27253 broad.mit.edu 37 13 58209093 58209093 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr13:58209093C>A uc001vhq.1 + 1 3305 c.2413C>A c.(2413-2415)CCC>ACC p.P805T PCDH17_uc010aec.1_Missense_Mutation_p.P805T NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 805 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GACCCGCCTGCCCCTCAGCTC 0.642 Melanoma(72;952 1291 1619 12849 33676) NA 4 11 3.59834e-05 5.98068e-05 0.021553 1 0 SLC7A8 23428 broad.mit.edu 37 14 23598874 23598874 + Silent SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr14:23598874G>A uc001wiz.2 - 9 1974 c.1248C>T c.(1246-1248)ATC>ATT p.I416I SLC7A8_uc001wiw.2_Silent_p.I33I|SLC7A8_uc001wix.2_Silent_p.I213I|SLC7A8_uc010tnk.1_Silent_p.I192I|SLC7A8_uc010tnl.1_Silent_p.I311I|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Intron NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 416 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) TGGGGCGGGGGATATCAGGCT 0.493 NA 42 74 0 0 0.013114 0 0 ZBTB1 22890 broad.mit.edu 37 14 64989933 64989933 + Missense_Mutation SNP G G C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr14:64989933G>C uc001xhh.3 + 4 2142 c.1711G>C c.(1711-1713)GAA>CAA p.E571Q ZBTB1_uc010aqg.2_Missense_Mutation_p.E571Q|ZBTB1_uc001xhi.2_Missense_Mutation_p.E571Q NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) GGAAGAAAATGAAAGAGATCA 0.358 NA 53 88 0 0 0.01441 0 0 CCDC88C 440193 broad.mit.edu 37 14 91772124 91772124 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr14:91772124C>A uc010aty.2 - 19 3441 c.3342G>T c.(3340-3342)CAG>CAT p.Q1114H NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 1114 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) GCTTGGCGGTCTGGGTCTGCA 0.597 NA 6 24 0.00116845 0.0018773 0.021553 1 0 ATP10A 57194 broad.mit.edu 37 15 25924557 25924557 + Silent SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr15:25924557T>C uc010ayu.2 - 21 4537 c.4431A>G c.(4429-4431)TCA>TCG p.S1477S NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1477 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CTGATCGGCCTGAGTGGGGCT 0.532 NA 21 44 0 0 0.012319 0 0 GABRG3 2567 broad.mit.edu 37 15 27772650 27772650 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr15:27772650G>T uc001zbg.1 + 8 1103 c.937G>T c.(937-939)GTG>TTG p.V313L NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 313 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CGTGTCCTACGTGACCGCCAT 0.557 NSCLC(114;800 1656 7410 37729 45293) NA 21 35 1.22574e-08 2.18817e-08 0.014323 1 0 SPTBN5 51332 broad.mit.edu 37 15 42168845 42168845 + Silent SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr15:42168845C>A uc001zos.2 - 20 4080 c.3747G>T c.(3745-3747)ACG>ACT p.T1249T NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1284 Spectrin 9. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCTCTCTGACCCTGGAGGGCG 0.677 NA 7 3 0.00307968 0.004851 0.00308 1 0 SMAD3 4088 broad.mit.edu 37 15 67473668 67473668 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr15:67473668G>T uc002aqj.2 + 6 1046 c.748G>T c.(748-750)GCC>TCC p.A250S SMAD3_uc010ujr.1_Missense_Mutation_p.A145S|SMAD3_uc010ujs.1_Missense_Mutation_p.A206S|SMAD3_uc010ujt.1_Missense_Mutation_p.A55S NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 250 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GACATTCCACGCCTCGCAGCC 0.592 NA 13 27 5.50884e-06 9.34951e-06 0.013537 1 0 DNAH3 55567 broad.mit.edu 37 16 20952726 20952726 + Missense_Mutation SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr16:20952726T>C uc010vbe.1 - 59 11651 c.11651A>G c.(11650-11652)AAC>AGC p.N3884S DNAH3_uc010vbd.1_Missense_Mutation_p.N1319S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3884 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GGCCCACCTGTTGAATCTGAT 0.498 NA 146 295 0 0 0.01441 0 0 HSD3B7 80270 broad.mit.edu 37 16 30997441 30997441 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr16:30997441G>A uc002eaf.2 + 3 344 c.238G>A c.(238-240)GCC>ACC p.A80T HSD3B7_uc010cac.2_Missense_Mutation_p.A80T|HSD3B7_uc002eag.2_Missense_Mutation_p.A80T|HSD3B7_uc002eah.2_Missense_Mutation_p.A80T NM_025193 NP_079469 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- 80 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity 0 TGTGGCCGGAGCCCATGTGGT 0.652 NA 4 16 0 0 0.009096 0 0 ITGAM 3684 broad.mit.edu 37 16 31341863 31341863 + Missense_Mutation SNP G G T rs140927329 by1000genomes TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr16:31341863G>T uc002ebq.2 + 28 3311 c.3213G>T c.(3211-3213)GAG>GAT p.E1071D ITGAM_uc002ebr.2_Missense_Mutation_p.E1072D|ITGAM_uc010can.2_Missense_Mutation_p.E477D NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 1071 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GCACAGCTGAGATCTTGTTTA 0.612 NA 9 14 1.76689e-08 3.13104e-08 0.006214 1 0 ABCC11 85320 broad.mit.edu 37 16 48234330 48234330 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr16:48234330C>T uc002eff.1 - 14 2289 c.1939G>A c.(1939-1941)GCC>ACC p.A647T ABCC11_uc002efg.1_Missense_Mutation_p.A647T|ABCC11_uc002efh.1_Missense_Mutation_p.A647T|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 647 ABC transporter 1.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GAATAGACGGCGCGGGCCAGG 0.582 NA Cerumen_Type 13 28 0 0 0.013537 0 0 JPH3 57338 broad.mit.edu 37 16 87677922 87677922 + Missense_Mutation SNP C C G rs140115944 byFrequency TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr16:87677922C>G uc002fkd.2 + 2 695 c.441C>G c.(439-441)AGC>AGG p.S147R JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 147 MORN 6.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) TCCGGCAGAGCGTCCCGTATG 0.677 NA 26 46 0 0 0.01892 0 0 TUBB3 10381 broad.mit.edu 37 16 90001774 90001774 + Silent SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr16:90001774G>T uc002fph.1 + 4 980 c.915G>T c.(913-915)CCG>CCT p.P305P TUBB3_uc002fpf.2_Silent_p.P652P|TUBB3_uc010ciz.1_Silent_p.P233P|TUBB3_uc002fpg.1_Silent_p.P159P|TUBB3_uc002fpi.1_Silent_p.P233P|TUBB3_uc002fpj.1_Silent_p.P233P|TUBB3_uc010cjb.1_Silent_p.P159P|TUBB3_uc002fpk.1_Silent_p.P159P NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 305 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CCTGCGACCCGCGCCACGGCC 0.667 NA 33 69 4.65686e-17 9.05084e-17 0.017118 1 0 CAMKK1 84254 broad.mit.edu 37 17 3788921 3788922 + Missense_Mutation DNP CC CC AA TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr17:3788921_3788922CC>AA uc002fwt.2 - 2 154_155 c.60_61GG>TT c.(58-63)GTGGCA>GTTTCA p.A21S CAMKK1_uc002fwu.2_Missense_Mutation_p.A21S|CAMKK1_uc002fwv.2_Missense_Mutation_p.A21S NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 21 synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) TCGATGGCTGCCACCCGTTCTA 0.609 NA 12 31 0 0 0.004672 0 0 MYH2 4620 broad.mit.edu 37 17 10427914 10427914 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr17:10427914G>T uc010coi.2 - 35 5172 c.5044C>A c.(5044-5046)CGC>AGC p.R1682S uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1682S|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1682 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTGGCTCTGCGCTCCACCATG 0.567 NA 24 43 2.70639e-06 4.65886e-06 0.014323 1 0 MYOCD 93649 broad.mit.edu 37 17 12656348 12656348 + Silent SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr17:12656348T>C uc002gnn.2 + 10 2042 c.1743T>C c.(1741-1743)TTT>TTC p.F581F MYOCD_uc002gno.2_Silent_p.F581F|MYOCD_uc002gnp.1_Silent_p.F485F|MYOCD_uc002gnq.2_Silent_p.F300F NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 581 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCTGTCCTTTTGCATCCCAAG 0.512 NA 29 57 0 0 0.007291 0 0 Unknown 0 broad.mit.edu 37 17 21730899 21730899 + Silent SNP G G C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr17:21730899G>C uc002gyy.3 + 2 326 c.201G>C c.(199-201)CTG>CTC p.L67L SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA AGTCGACCCTGCATCTGGTCC 0.557 NA 16 42 0 0 0.024245 0 0 PSMD12 5718 broad.mit.edu 37 17 65337022 65337022 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr17:65337022C>T uc002jfy.2 - 11 1394 c.1308G>A c.(1306-1308)ATG>ATA p.M436I PSMD12_uc002jga.2_Missense_Mutation_p.M416I|PSMD12_uc002jfz.2_Missense_Mutation_p.M377I NM_002816 NP_002807 O00232 PSD12_HUMAN proteasome 26S non-ATPase subunit 12 isoform 1 436 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding 0 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) TAACCAGAGACATTAATGAGT 0.343 NA 24 80 0 0 0.027356 0 0 FBF1 85302 broad.mit.edu 37 17 73915810 73915810 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr17:73915810G>A uc002jqc.2 - 19 2306 c.2032C>T c.(2032-2034)CGC>TGC p.R678C FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.R669C|FBF1_uc002jqd.1_Missense_Mutation_p.R679C|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_5'UTR NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 678 0 GCCGCCAAGCGCCGCTGGTGC 0.672 NA 25 16 0 0 0.01892 0 0 MC2R 4158 broad.mit.edu 37 18 13885348 13885348 + Missense_Mutation SNP G G T rs140534585 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr18:13885348G>T uc002ksp.1 - 2 347 c.170C>A c.(169-171)GCA>GAA p.A57E NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 57 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) GTACATGGGTGCCTGGAGATT 0.418 Colon(141;1584 1782 35999 48227 48692) NA 26 49 2.79863e-10 5.07121e-10 0.024334 1 0 WDR7 23335 broad.mit.edu 37 18 54688052 54688052 + Missense_Mutation SNP A A G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr18:54688052A>G uc002lgk.1 + 27 4452 c.4241A>G c.(4240-4242)AAC>AGC p.N1414S WDR7_uc002lgl.1_Missense_Mutation_p.N1381S NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1414 WD 9. ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) ACCTACTCAAACACTGACAGC 0.428 NA 32 64 0 0 0.012213 0 0 ALPK2 115701 broad.mit.edu 37 18 56247275 56247275 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr18:56247275C>A uc002lhj.3 - 4 947 c.733G>T c.(733-735)GGT>TGT p.G245C NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 245 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TTCAGGTCACCATCCGTGAAC 0.413 NA 61 130 1.1362e-29 2.60784e-29 0.01441 1 0 ZNRF4 148066 broad.mit.edu 37 19 5456253 5456253 + Missense_Mutation SNP G G C rs113345491 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:5456253G>C uc002mca.3 + 1 828 c.751G>C c.(751-753)GTG>CTG p.V251L NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 251 Helical; (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CTGTCACCCCGTGCTGACCGT 0.682 NA 23 17 0 0 0.016522 0 0 MUC16 94025 broad.mit.edu 37 19 9090468 9090468 + Silent SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:9090468G>T uc002mkp.2 - 1 1551 c.1347C>A c.(1345-1347)TCC>TCA p.S449S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 449 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGTCATTTCGGACTCTTCTC 0.488 NA 49 32 1.07234e-20 2.24726e-20 0.01441 1 0 KEAP1 9817 broad.mit.edu 37 19 10602581 10602581 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:10602581C>A uc002moq.1 - 3 1153 c.997G>T c.(997-999)GGC>TGC p.G333C KEAP1_uc002mop.1_Missense_Mutation_p.G51C|KEAP1_uc002mor.1_Missense_Mutation_p.G333C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 333 Kelch 1. G -> C (in a NSCLC cell line; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression). regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGAAGTAGCCGCCCGCGGTG 0.677 NA 9 7 2.17888e-05 3.64659e-05 0.006214 1 0 NFIX 4784 broad.mit.edu 37 19 13136190 13136190 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:13136190G>T uc010xmx.1 + 2 460 c.407G>T c.(406-408)CGG>CTG p.R136L NFIX_uc002mwd.2_Missense_Mutation_p.R128L|NFIX_uc002mwe.2_Missense_Mutation_p.R120L|NFIX_uc002mwf.2_Missense_Mutation_p.R131L|NFIX_uc002mwg.1_Missense_Mutation_p.R127L Q14938 NFIX_HUMAN RecName: Full=Nuclear factor 1; 128 CTF/NF-I. DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) AAGGTGTGGCGGCTGGACCTG 0.617 NA 18 10 0.00229938 0.00364572 0.014323 1 0 ZNF536 9745 broad.mit.edu 37 19 31025796 31025796 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:31025796C>A uc002nsu.1 + 3 2351 c.2213C>A c.(2212-2214)CCA>CAA p.P738Q ZNF536_uc010edd.1_Missense_Mutation_p.P738Q NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 738 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GTCCAGCAACCAGCGCTGCTT 0.577 NA 48 91 2.24722e-20 4.66879e-20 0.01441 1 0 RYR1 6261 broad.mit.edu 37 19 38960061 38960061 + Missense_Mutation SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:38960061T>C uc002oit.2 + 27 3803 c.3673T>C c.(3673-3675)TTT>CTT p.F1225L RYR1_uc002oiu.2_Missense_Mutation_p.F1225L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1225 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTTCGAGCCATTTGCCATCAA 0.587 NA 46 89 0 0 0.01441 0 0 PRR12 57479 broad.mit.edu 37 19 50103069 50103069 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:50103069G>A uc002poo.3 + 5 4219 c.4219G>A c.(4219-4221)GAC>AAC p.D1407N NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 586 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TGCCCTCGATGACCCACCCCT 0.662 NA 37 76 0 0 0.00874 0 0 TSKS 60385 broad.mit.edu 37 19 50266500 50266500 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:50266500G>T uc002ppm.2 - 1 16 c.5C>A c.(4-6)GCG>GAG p.A2E NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 2 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CACCACGCTCGCCATGGTGTG 0.632 NA 12 47 4.93089e-13 9.43131e-13 0.020292 1 0 VN1R4 317703 broad.mit.edu 37 19 53770889 53770889 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:53770889C>A uc010ydu.1 - 1 30 c.30G>T c.(28-30)ATG>ATT p.M10I NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 10 Helical; Name=1; (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) GTGATAAGATCATTCCCACTG 0.517 NA HNSCC(26;0.072) 21 53 1.66031e-10 3.03131e-10 0.021523 1 0 NCR1 9437 broad.mit.edu 37 19 55417918 55417918 + Missense_Mutation SNP T T A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:55417918T>A uc002qib.2 + 3 146 c.108T>A c.(106-108)CAT>CAA p.H36Q NCR1_uc002qic.2_Missense_Mutation_p.H36Q|NCR1_uc002qie.2_Missense_Mutation_p.H36Q|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 36 Ig-like 1.|Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) CCGAGCCCCATTTCATGGTTC 0.547 NA 25 63 0 0 0.01892 0 0 TMEM150B 284417 broad.mit.edu 37 19 55831931 55831931 + Silent SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:55831931G>A uc010esw.1 - 4 296 c.123C>T c.(121-123)TAC>TAT p.Y41Y TMEM150B_uc010yfu.1_Silent_p.Y41Y|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Silent_p.Y41Y NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 41 Extracellular (Potential). integral to membrane 0 ATTACCTGATGTAGGGAAAGC 0.537 NA 34 64 0 0 0.027894 0 0 IL11 3589 broad.mit.edu 37 19 55879690 55879690 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr19:55879690C>T uc002qks.1 - 4 453 c.317G>A c.(316-318)CGG>CAG p.R106Q IL11_uc010yfx.1_Missense_Mutation_p.R27Q NM_000641 NP_000632 P20809 IL11_HUMAN interleukin 11 precursor 106 B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-11 receptor binding 0 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) Oprelvekin(DB00038) CTGCACGTGCCGCAGGTAGGA 0.687 NA 4 10 0 0 0.021553 0 0 IFT172 26160 broad.mit.edu 37 2 27700939 27700939 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr2:27700939C>T uc002rku.2 - 11 1141 c.1090G>A c.(1090-1092)GGA>AGA p.G364R IFT172_uc002rkw.2_Missense_Mutation_p.G364R|IFT172_uc010yls.1_Missense_Mutation_p.G343R|IFT172_uc010ezc.2_Missense_Mutation_p.G364R|IFT172_uc002rkv.2_Missense_Mutation_p.G338R NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 364 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CGTTCCTTTCCTAGGATTTTC 0.483 NA 77 196 0 0 0.01441 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144245031 144245031 + Missense_Mutation SNP C C G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr2:144245031C>G uc002tvm.3 + 9 944 c.793C>G c.(793-795)CTG>GTG p.L265V ARHGAP15_uc002tvn.2_Missense_Mutation_p.L31V NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 265 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) AAGACCTTCCCTGAAAACTCT 0.358 NA 95 76 0 0 0.01441 0 0 RBMS1 5937 broad.mit.edu 37 2 161137837 161137837 + Missense_Mutation SNP A A C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr2:161137837A>C uc002ubo.2 - 10 1383 c.939T>G c.(937-939)ATT>ATG p.I313M RBMS1_uc002ubj.2_Missense_Mutation_p.I293M|RBMS1_uc002ubk.2_Missense_Mutation_p.I277M|RBMS1_uc002ubl.2_Missense_Mutation_p.I308M|RBMS1_uc002ubn.2_Missense_Mutation_p.I310M|RBMS1_uc002ubi.3_Missense_Mutation_p.I326M|RBMS1_uc002ubm.2_Missense_Mutation_p.I296M|RBMS1_uc002ubp.2_Missense_Mutation_p.I329M|RBMS1_uc010fox.2_3'UTR NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 313 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 GGTGCTGTAGAATATATGGTT 0.338 NA 55 64 0 0 0.01441 0 0 IKZF2 22807 broad.mit.edu 37 2 213872195 213872195 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr2:213872195C>A uc002vem.2 - 8 1639 c.1470G>T c.(1468-1470)ATG>ATT p.M490I IKZF2_uc010fuu.2_Missense_Mutation_p.M345I|IKZF2_uc002vej.2_Missense_Mutation_p.M437I|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.M416I|IKZF2_uc002vel.2_Missense_Mutation_p.M411I|IKZF2_uc010fuw.2_Missense_Mutation_p.M264I|IKZF2_uc010fux.2_Missense_Mutation_p.M264I|IKZF2_uc010fuy.2_Missense_Mutation_p.M418I|IKZF2_uc002ven.2_Missense_Mutation_p.M464I|IKZF2_uc002vei.2_Missense_Mutation_p.M268I NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 490 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CATGGCAACCCATGTGAATGG 0.498 NA 105 80 9.98844e-40 2.3371e-39 0.01441 1 0 ABCA12 26154 broad.mit.edu 37 2 215820069 215820069 + Missense_Mutation SNP A A T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr2:215820069A>T uc002vew.2 - 43 6470 c.6250T>A c.(6250-6252)TGG>AGG p.W2084R ABCA12_uc002vev.2_Missense_Mutation_p.W1766R|ABCA12_uc010zjn.1_Missense_Mutation_p.W1011R NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2084 Helical; (Potential). 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) AAGTACATCCAGGAAAATGTT 0.313 Ovarian(66;664 1488 5121 34295) NA 47 59 0 0 0.01441 0 0 SP100 6672 broad.mit.edu 37 2 231372747 231372747 + Splice_Site SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr2:231372747G>T uc002vqt.2 + 23 2193 c.2052_splice c.e23+1 p.K684_splice SP100_uc002vqs.2_Missense_Mutation_p.V685L|SP100_uc002vqu.1_Splice_Site_p.K684_splice|SP100_uc010fxp.1_Intron NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAGAAAAAAGGTGATGATCAA 0.333 NA 32 44 1.60099e-16 3.0867e-16 0.021022 1 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768808 31768808 + Missense_Mutation SNP G G C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr21:31768808G>C uc002yoa.2 + 1 417 c.404G>C c.(403-405)TGT>TCT p.C135S NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 135 intermediate filament ovary(1) 1 TATGGAGGCTGTGGCTTCCCT 0.577 NA 14 35 0 0 0.024245 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874303 31874303 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr21:31874303C>A uc011ada.1 - 1 106 c.106G>T c.(106-108)GGC>TGC p.G36C NM_181611 NP_853642 Q3LI72 KR195_HUMAN keratin associated protein 19-5 36 intermediate filament protein binding 0 CCGCCATAGCCCAGTCTGCGG 0.587 NA 56 109 3.37043e-27 7.66296e-27 0.01441 1 0 IFNAR1 3454 broad.mit.edu 37 21 34721527 34721527 + Missense_Mutation SNP G G A rs17875833 byFrequency TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr21:34721527G>A uc002yrn.2 + 7 1066 c.919G>A c.(919-921)GTA>ATA p.V307I IFNAR1_uc011adv.1_Missense_Mutation_p.V238I NM_000629 NP_000620 P17181 INAR1_HUMAN interferon-alpha receptor 1 precursor 307 Fibronectin type-III 2.|Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity central_nervous_system(1)|skin(1) 2 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CCTTCTCCGCGTACAAGCATC 0.348 Esophageal Squamous(73;817 1211 32990 35667 42746) NA 29 72 0 0 0.007291 0 0 DSCAM 1826 broad.mit.edu 37 21 42080524 42080524 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr21:42080524G>T uc002yyq.1 - 2 669 c.217C>A c.(217-219)CGC>AGC p.R73S DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 73 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACGTGGCGGATCCCGGGG 0.552 Melanoma(134;970 1778 1785 21664 32388) NA 23 56 5.26018e-13 9.98191e-13 0.012319 1 0 TCF20 6942 broad.mit.edu 37 22 42575679 42575679 + Silent SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr22:42575679G>T uc003bcj.1 - 2 5819 c.5685C>A c.(5683-5685)GCC>GCA p.A1895A TCF20_uc003bck.1_Silent_p.A1895A|TCF20_uc003bnt.2_Silent_p.A1895A NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1895 PHD-type; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 AGCCCAAGGTGGCGCCTGCCT 0.557 NA 49 85 3.4597e-24 7.72026e-24 0.01441 1 0 ZIC4 84107 broad.mit.edu 37 3 147108894 147108894 + Silent SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr3:147108894C>A uc003ewd.1 - 4 1101 c.828G>T c.(826-828)ACG>ACT p.T276T ZIC4_uc003ewc.1_Silent_p.T206T|ZIC4_uc011bno.1_Silent_p.T326T NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 276 C2H2-type 5. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 AGCTGGGGTGCGTGTAGCACT 0.642 NA 7 27 0.000157383 0.00025979 0.00308 1 0 SMC4 10051 broad.mit.edu 37 3 160146643 160146643 + Missense_Mutation SNP A A T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr3:160146643A>T uc003fdh.2 + 18 2821 c.2708A>T c.(2707-2709)CAA>CTA p.Q903L IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.Q878L|SMC4_uc003fdj.2_Missense_Mutation_p.Q903L|SMC4_uc010hwd.2_Missense_Mutation_p.Q903L|SMC4_uc003fdl.2_Missense_Mutation_p.Q606L NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 903 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAGGCCCAACAAGACAAACTT 0.373 NA 30 39 0 0 0.009535 0 0 NCEH1 57552 broad.mit.edu 37 3 172353764 172353764 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr3:172353764C>A uc011bpx.1 - 4 809 c.671G>T c.(670-672)AGA>ATA p.R224I NCEH1_uc003fig.2_Missense_Mutation_p.R216I|NCEH1_uc011bpw.1_Missense_Mutation_p.R51I|NCEH1_uc011bpy.1_Missense_Mutation_p.R51I NM_001146276 NP_001139748 Q6PIU2 NCEH1_HUMAN arylacetamide deacetylase-like 1 isoform a 184 Lumenal (Potential). lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity 0 AATGCAAATTCTGCCTGGATC 0.468 NA 40 91 4.67007e-22 1.0049e-21 0.00874 1 0 EVC2 132884 broad.mit.edu 37 4 5696066 5696067 + Missense_Mutation DNP CG CG AT rs148388393 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr4:5696066_5696067CG>AT uc003gij.2 - 3 499_500 c.445_446CG>AT c.(445-447)CGC>ATC p.R149I EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.R69I NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 149 integral to membrane large_intestine(3)|ovary(2) 5 ACTTACCAGGCGGTGTGTTATA 0.391 NA 21 49 0 0 0.004672 0 0 ATP10D 57205 broad.mit.edu 37 4 47514700 47514700 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr4:47514700G>T uc003gxk.1 + 2 307 c.143G>T c.(142-144)GGA>GTA p.G48V ATP10D_uc003gxj.3_Missense_Mutation_p.G48V NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 48 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 AAACTGTCAGGAAGGCACCGG 0.507 NA 28 42 1.32181e-22 2.86987e-22 0.007291 1 0 PCDH10 57575 broad.mit.edu 37 4 134071419 134071419 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr4:134071419G>T uc003iha.2 + 1 950 c.124G>T c.(124-126)GGT>TGT p.G42C uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G42C NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 42 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGAAGATCTGGGTCTGGACAT 0.532 NA 33 83 1.99505e-19 4.0404e-19 0.012213 1 0 PLEKHG4B 153478 broad.mit.edu 37 5 163446 163446 + Missense_Mutation SNP G G A rs143360196 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:163446G>A uc003jak.2 + 11 2241 c.2191G>A c.(2191-2193)GAG>AAG p.E731K NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 731 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GCAAAGTTTCGAGATACCTCA 0.572 NA 74 99 0 0 0.01441 0 0 PRDM9 56979 broad.mit.edu 37 5 23509089 23509089 + Translation_Start_Site SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:23509089G>T uc003jgo.2 + 2 129 c.-53G>T c.(-55--51)CAGGG>CATGG NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGGAGACTCAGGGCCCTTCTC 0.572 NA HNSCC(3;0.000094) 16 13 6.31663e-08 1.10312e-07 0.024245 1 0 PDZD2 23037 broad.mit.edu 37 5 32059357 32059357 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:32059357G>A uc003jhl.2 + 13 2601 c.2213G>A c.(2212-2214)GGA>GAA p.G738E PDZD2_uc003jhm.2_Missense_Mutation_p.G738E|PDZD2_uc011cnx.1_Missense_Mutation_p.G564E NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 738 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CCAAGAGTTGGATTAGGCATT 0.418 NA 16 38 0 0 0.00499 0 0 IQGAP2 10788 broad.mit.edu 37 5 75858378 75858378 + Splice_Site SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:75858378G>A uc003kek.2 + 3 525 c.303_splice c.e3+1 p.K101_splice NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACGTTATAAGGTAACCAAGAT 0.383 NA 60 50 0 0 0.01441 0 0 PSD2 84249 broad.mit.edu 37 5 139193133 139193133 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:139193133C>T uc003leu.1 + 3 816 c.611C>T c.(610-612)GCG>GTG p.A204V NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 204 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGACATGGCGTTTGAGGGG 0.687 NA 28 33 0 0 0.009535 0 0 HARS2 23438 broad.mit.edu 37 5 140076937 140076937 + Silent SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:140076937G>T uc003lgx.2 + 10 1359 c.1143G>T c.(1141-1143)GTG>GTT p.V381V HARS2_uc011czr.1_Silent_p.V356V|HARS2_uc011czs.1_Silent_p.V237V|HARS2_uc011czt.1_Silent_p.V209V|HARS2_uc011czu.1_Silent_p.V207V NM_012208 NP_036340 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2 precursor 381 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCATGTGTGGGACTCAGCA 0.577 NA 12 61 3.07112e-06 5.24921e-06 0.010729 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182996 140182996 + Silent SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:140182996G>T uc003lhf.2 + 1 2214 c.2214G>T c.(2212-2214)ACG>ACT p.T738T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.T738T NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 738 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGCCCACGCTGGTGTGCT 0.652 NA 39 131 3.09479e-21 6.54249e-21 0.027894 1 0 PCDHB18 54660 broad.mit.edu 37 5 140615600 140615600 + Missense_Mutation SNP C C G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:140615600C>G uc003ljc.1 + 1 1663 c.1315C>G c.(1315-1317)CCG>GCG p.P439A NR_001281 SubName: Full=Similar to protocadherin-3 (Pcdh3); ovary(1) 1 CTCGCTGCTGCCGCCCCAGGA 0.652 NA 58 223 0 0 0.01441 0 0 TIMD4 91937 broad.mit.edu 37 5 156375427 156375427 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:156375427C>A uc003lwh.2 - 5 901 c.844G>T c.(844-846)GCA>TCA p.A282S TIMD4_uc010jii.2_Intron NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 282 Extracellular (Potential). integral to membrane p.A282E(1) ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCCCCCTACCTCCAGGCTGA 0.313 NA 19 17 1.56452e-12 2.92287e-12 0.007413 1 0 SLIT3 6586 broad.mit.edu 37 5 168096868 168096868 + Missense_Mutation SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:168096868T>C uc003mab.2 - 35 4676 c.4256A>G c.(4255-4257)CAT>CGT p.H1419R SLIT3_uc010jjg.2_Missense_Mutation_p.H1426R NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1419 EGF-like 9. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCACTGCCCATGGTGACACTT 0.582 Ovarian(29;311 847 10864 17279 24903) NA 15 42 0 0 0.028581 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179297292 179297292 + Missense_Mutation SNP G G C rs148980801 byFrequency TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr5:179297292G>C uc003mlh.2 - 16 2725 c.2688C>G c.(2686-2688)GAC>GAG p.D896E TBC1D9B_uc003mli.2_Missense_Mutation_p.D896E|TBC1D9B_uc003mlj.2_Missense_Mutation_p.D896E|TBC1D9B_uc003mlg.2_Missense_Mutation_p.D72E|TBC1D9B_uc011dgv.1_Missense_Mutation_p.D72E|TBC1D9B_uc011dgw.1_Missense_Mutation_p.D72E|TBC1D9B_uc003mlk.1_Missense_Mutation_p.D54E NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 896 EF-hand. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGATCAGCGAGTCCTTGTTTT 0.602 NA 6 149 0 0 0.001984 0 0 BTN2A2 10385 broad.mit.edu 37 6 26385353 26385353 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr6:26385353C>T uc003nhq.2 + 3 291 c.205C>T c.(205-207)CGG>TGG p.R69W BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Missense_Mutation_p.R69W|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.R69W|BTN2A2_uc003nht.2_Missense_Mutation_p.R69W NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 69 Extracellular (Potential).|Ig-like V-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 CATGGAGGTGCGGTGGTTCCG 0.547 NA 23 81 0 0 0.016522 0 0 CFB 629 broad.mit.edu 37 6 31914202 31914202 + Silent SNP G G C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr6:31914202G>C uc003nyj.3 + 2 395 c.117G>C c.(115-117)CTG>CTC p.L39L CFB_uc011dor.1_Silent_p.L541L|CFB_uc011dos.1_Silent_p.L39L|CFB_uc003nyi.2_Silent_p.L39L NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 39 Sushi 1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 CCTGCTCTCTGGAGGGGGTAG 0.597 NA 15 63 0 0 0.028581 0 0 KCNK16 83795 broad.mit.edu 37 6 39284685 39284685 + Silent SNP C C G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr6:39284685C>G uc003ooq.2 - 4 548 c.534G>C c.(532-534)CTG>CTC p.L178L KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Silent_p.L178L|KCNK16_uc010jwy.2_Silent_p.L178L|KCNK16_uc011dtz.1_Silent_p.L178L NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 178 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 CCAGCGTCCCCAGGGTCAGGA 0.557 NA 32 105 0 0 0.012213 0 0 COL21A1 81578 broad.mit.edu 37 6 55990417 55990417 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr6:55990417C>A uc003pcs.2 - 14 1830 c.1598G>T c.(1597-1599)GGT>GTT p.G533V COL21A1_uc010jzz.2_5'Flank|COL21A1_uc011dxg.1_5'Flank|COL21A1_uc011dxh.1_5'Flank|COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.G533V|COL21A1_uc003pcu.1_Missense_Mutation_p.G530V NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 533 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCCATTTCACCCTAAAAGAC 0.274 NA 7 13 1.12685e-05 1.8991e-05 0.004482 1 0 PRIM2 5558 broad.mit.edu 37 6 57512584 57512584 + Missense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr6:57512584C>A uc003pdx.2 + 15 1499 c.1412C>A c.(1411-1413)CCT>CAT p.P471H NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 471 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CCAGAAACTCCTCAACCCAAA 0.403 NA 17 377 0.000422831 0.00068853 0.028581 1 0 BMPER 168667 broad.mit.edu 37 7 34192754 34192754 + Missense_Mutation SNP A A T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr7:34192754A>T uc011kap.1 + 15 2041 c.1927A>T c.(1927-1929)ATC>TTC p.I643F NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 643 TIL. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 TCCGGGATGTATCAAGACGTG 0.502 NA 40 84 0 0 0.011902 0 0 ZNF479 90827 broad.mit.edu 37 7 57200007 57200007 + Nonsense_Mutation SNP C C A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr7:57200007C>A uc010kzo.2 - 2 296 c.25G>T c.(25-27)GGA>TGA p.G9* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TCTCGGCTTCCAGGGGGTCCT 0.547 NA 23 42 1.17739e-12 2.21681e-12 0.027356 1 0 ANKIB1 54467 broad.mit.edu 37 7 91972523 91972523 + Missense_Mutation SNP C C T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr7:91972523C>T uc003ulw.2 + 6 1349 c.973C>T c.(973-975)CCT>TCT p.P325S NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 325 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGCTTATCTCCTGGGGATTT 0.423 NA 16 23 0 0 0.028581 0 0 TRRAP 8295 broad.mit.edu 37 7 98535407 98535407 + Silent SNP A A G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr7:98535407A>G uc003upp.2 + 30 4577 c.4368A>G c.(4366-4368)CCA>CCG p.P1456P TRRAP_uc011kis.1_Silent_p.P1456P|TRRAP_uc003upr.2_Silent_p.P1148P NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1456 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) GGCTCTTCCCAAATTCCTTCA 0.383 NA 16 22 0 0 0.00499 0 0 ZNF277 11179 broad.mit.edu 37 7 111977846 111977846 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr7:111977846G>A uc003vge.2 + 9 1060 c.931G>A c.(931-933)GCA>ACA p.A311T ZNF277_uc003vgf.2_Missense_Mutation_p.A233T|ZNF277_uc003vgg.2_Missense_Mutation_p.A136T NM_021994 NP_068834 Q9NRM2 ZN277_HUMAN zinc finger protein (C2H2 type) 277 311 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(2) 4 TGAAAAGCAAGCAGAAACAAT 0.383 NA 22 62 0 0 0.01892 0 0 BRAF 673 broad.mit.edu 37 7 140481402 140481403 + Missense_Mutation DNP CC CC AA TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr7:140481402_140481403CC>AA uc003vwc.3 - 11 1466_1467 c.1405_1406GG>TT c.(1405-1407)GGA>TTA p.G469L NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 469 ATP (By similarity).|Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). 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.G469A(19)|p.G469V(12)|p.G469S(6)|p.G469R(6)|p.G469E(5) 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) GTAGACTGTTCCAAATGATCCA 0.371 Colon(40;35 892 2973 5743 27438) G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG) 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 32 59 0 0 0.004672 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228804 57228804 + Missense_Mutation SNP G G A rs116944947 by1000genomes TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr8:57228804G>A uc003xsy.1 - 2 741 c.103C>T c.(103-105)CGG>TGG p.R35W SDR16C5_uc010lyk.1_Missense_Mutation_p.R35W|SDR16C5_uc010lyl.1_Missense_Mutation_p.R35W NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN epidermal retinal dehydrogenase 2 35 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity ovary(1)|central_nervous_system(1)|skin(1) 3 ACGTTCTTCCGTGGCTTTGGG 0.458 NA 24 46 0 0 0.021523 0 0 TRPA1 8989 broad.mit.edu 37 8 72952008 72952008 + Missense_Mutation SNP C C G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr8:72952008C>G uc003xza.2 - 18 2261 c.2086G>C c.(2086-2088)GAG>CAG p.E696Q uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 696 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TTGAGAAGCTCTATGCGGTTA 0.299 NA 28 58 0 0 0.012213 0 0 PSKH2 85481 broad.mit.edu 37 8 87060816 87060816 + Missense_Mutation SNP A A T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr8:87060816A>T uc011lfy.1 - 3 1033 c.1033T>A c.(1033-1035)TCT>ACT p.S345T NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 345 ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) GAGTGGGGAGAGGCCCTCTGC 0.517 NA 34 58 0 0 0.017118 0 0 CSMD3 114788 broad.mit.edu 37 8 113314030 113314030 + Missense_Mutation SNP C C G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr8:113314030C>G uc003ynu.2 - 53 8591 c.8432G>C c.(8431-8433)AGA>ACA p.R2811T CSMD3_uc003yns.2_Missense_Mutation_p.R2013T|CSMD3_uc003ynt.2_Missense_Mutation_p.R2771T|CSMD3_uc011lhx.1_Missense_Mutation_p.R2642T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2811 Extracellular (Potential).|Sushi 17. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACCTAGGCATCTGGTTTCAGA 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 38 0 0 0.010504 0 0 ATAD2 29028 broad.mit.edu 37 8 124340444 124340444 + Missense_Mutation SNP T T A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr8:124340444T>A uc003yqh.3 - 25 3962 c.3854A>T c.(3853-3855)GAA>GTA p.E1285V ATAD2_uc011lii.1_Missense_Mutation_p.E1076V|ATAD2_uc003yqi.3_RNA NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1285 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TCCTTCATTTTCATCAGAAAT 0.308 NA 12 21 0 0 0.010729 0 0 KIF24 347240 broad.mit.edu 37 9 34255920 34255920 + Missense_Mutation SNP T T C rs144702014 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr9:34255920T>C uc003zua.3 - 11 3805 c.3685A>G c.(3685-3687)AGG>GGG p.R1229G KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 1229 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) CAACCAAGCCTTGTAGGATGT 0.532 NA OREG0019148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 39 0 0 0.004672 0 0 MRPL50 54534 broad.mit.edu 37 9 104153117 104153117 + Silent SNP T T C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr9:104153117T>C uc004bbe.2 - 2 153 c.108A>G c.(106-108)CCA>CCG p.P36P MRPL50_uc011lvj.1_Silent_p.P36P NM_019051 NP_061924 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 36 mitochondrion|ribosome 0 Acute lymphoblastic leukemia(62;0.0559) CAACAACCACTGGCTCTTTCT 0.413 NA 38 45 0 0 0.021022 0 0 TLR4 7099 broad.mit.edu 37 9 120474686 120474686 + Nonsense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr9:120474686G>T uc004bjz.2 + 3 571 c.280G>T c.(280-282)GAA>TAA p.E94* TLR4_uc004bka.2_Nonsense_Mutation_p.E54*|TLR4_uc004bkb.2_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 94 LRR 2.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CCAGACAATTGAAGATGGGGC 0.388 NA 13 28 0.00185496 0.00296056 0.016723 1 0 CSF2RA 1438 broad.mit.edu 37 X 1419396 1419396 + Missense_Mutation SNP G G T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chrX:1419396G>T uc010nct.2 + 11 1145 c.823G>T c.(823-825)GGT>TGT p.G275C CSF2RA_uc011mhb.1_Missense_Mutation_p.G275C|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.G275C|CSF2RA_uc004cpo.2_Missense_Mutation_p.G275C|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.G142C|CSF2RA_uc004cpp.2_Missense_Mutation_p.G275C|CSF2RA_uc010ncv.2_Missense_Mutation_p.G275C|CSF2RA_uc004cpr.2_Missense_Mutation_p.G275C NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 275 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 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) TAATGTTTCTGGTGATTTGGA 0.403 Esophageal Squamous(131;723 1707 25334 40494 41806) NA 39 68 2.40579e-17 4.71379e-17 0.025465 1 0 GDPD2 54857 broad.mit.edu 37 X 69647191 69647191 + Missense_Mutation SNP G G C TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chrX:69647191G>C uc004dyh.2 + 10 1065 c.814G>C c.(814-816)GAT>CAT p.D272H GDPD2_uc010nkx.1_Intron|GDPD2_uc010nky.1_Missense_Mutation_p.D58H|GDPD2_uc011mpk.1_Missense_Mutation_p.D272H|GDPD2_uc011mpl.1_Missense_Mutation_p.D193H|GDPD2_uc011mpm.1_Missense_Mutation_p.D193H NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 272 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) CCTCATGCATGATGAGCACCT 0.577 NA 10 7 0 0 0.006214 0 0 KDM5D 8284 broad.mit.edu 37 Y 21870790 21870790 + Missense_Mutation SNP C C G TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chrY:21870790C>G uc004fug.2 - 21 3340 c.3052G>C c.(3052-3054)GCT>CCT p.A1018P KDM5D_uc011naz.1_Missense_Mutation_p.A1049P|KDM5D_uc010nwy.2_Missense_Mutation_p.A961P|KDM5D_uc004fuf.2_Missense_Mutation_p.A193P NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 1018 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) GCAATCCAAGCTTGTGCCTTA 0.448 NA 20 11 0 0 0.01892 0 0 ZMYM1 79830 broad.mit.edu 37 1 35578842 35578842 + Frame_Shift_Del DEL A A - TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:35578842delA uc001bym.2 + 11 1559 c.1411delA c.(1411-1413)AAAfs p.K471fs ZMYM1_uc001byn.2_Frame_Shift_Del_p.K471fs|ZMYM1_uc010ohu.1_Frame_Shift_Del_p.K452fs|ZMYM1_uc001byo.2_Frame_Shift_Del_p.K111fs|ZMYM1_uc009vut.2_Frame_Shift_Del_p.K396fs NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 471 TTF-type. nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGAAAACAGTAAAAAAGATGT 0.343 NA 7 68 --- --- --- --- NA NA NA NA NA KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr1:155886422_155886423delCT uc001fmi.1 - 12 1570_1571 c.1546_1547delAG c.(1546-1548)AGGfs p.R516fs KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrk.1_Frame_Shift_Del_p.R373fs|KIAA0907_uc009wrl.1_RNA NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 516 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 NA 7 350 --- --- --- --- NA NA NA NA NA ARID2 196528 broad.mit.edu 37 12 46215214 46215214 + Frame_Shift_Del DEL T T - TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr12:46215214delT uc001ros.1 + 6 649 c.649delT c.(649-651)TTTfs p.F217fs ARID2_uc001ror.2_Frame_Shift_Del_p.F217fs NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 217 F -> L (in Ref. 4; CAD91164). chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTAGGATCCTTTTCCACTGT 0.259 NA 8 100 --- --- --- --- NA NA NA NA NA ELL3 80237 broad.mit.edu 37 15 44066401 44066409 + In_Frame_Del DEL CCGAACTCT CCGAACTCT - rs147224616 TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 CCGAACTCT CCGAACTCT - - CCGAACTCT CCGAACTCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr15:44066401_44066409delCCGAACTCT uc001zsw.1 - 9 1412_1420 c.1009_1017delAGAGTTCGG c.(1009-1017)AGAGTTCGGdel p.RVR337del ELL3_uc001zsv.1_In_Frame_Del_p.RVR291del|ELL3_uc001zsx.1_In_Frame_Del_p.RVR222del|uc001zsy.2_5'Flank NM_025165 NP_079441 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 337_339 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex ovary(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GAGTTCCTCGCCGAACTCTTTTAATCTCT 0.502 NA 18 42 --- --- --- --- NA NA NA NA NA CACNA1G 8913 broad.mit.edu 37 17 48653249 48653251 + In_Frame_Del DEL CAC CAC - TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 CAC CAC - - CAC CAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr17:48653249_48653251delCAC uc002irk.1 + 8 1858_1860 c.1486_1488delCAC c.(1486-1488)CACdel p.H504del CACNA1G_uc002iri.1_In_Frame_Del_p.H504del|CACNA1G_uc002irj.1_In_Frame_Del_p.H504del|CACNA1G_uc002irl.1_In_Frame_Del_p.H504del|CACNA1G_uc002irm.1_In_Frame_Del_p.H504del|CACNA1G_uc002irn.1_In_Frame_Del_p.H504del|CACNA1G_uc002iro.1_In_Frame_Del_p.H504del|CACNA1G_uc002irp.1_In_Frame_Del_p.H504del|CACNA1G_uc002irq.1_In_Frame_Del_p.H504del|CACNA1G_uc002irr.1_In_Frame_Del_p.H504del|CACNA1G_uc002irs.1_In_Frame_Del_p.H504del|CACNA1G_uc002irt.1_In_Frame_Del_p.H504del|CACNA1G_uc002irv.1_In_Frame_Del_p.H504del|CACNA1G_uc002irw.1_In_Frame_Del_p.H504del|CACNA1G_uc002iru.1_In_Frame_Del_p.H504del|CACNA1G_uc002irx.1_In_Frame_Del_p.H417del|CACNA1G_uc002iry.1_In_Frame_Del_p.H417del|CACNA1G_uc002irz.1_In_Frame_Del_p.H417del|CACNA1G_uc002isa.1_In_Frame_Del_p.H417del|CACNA1G_uc002isb.1_In_Frame_Del_p.H417del|CACNA1G_uc002isc.1_In_Frame_Del_p.H417del|CACNA1G_uc002isd.1_In_Frame_Del_p.H417del|CACNA1G_uc002ise.1_In_Frame_Del_p.H417del|CACNA1G_uc002isf.1_In_Frame_Del_p.H417del|CACNA1G_uc002isg.1_In_Frame_Del_p.H417del|CACNA1G_uc002ish.1_In_Frame_Del_p.H417del|CACNA1G_uc002isi.1_In_Frame_Del_p.H417del NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 504 Cytoplasmic (Potential).|Poly-His. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCACCTGGTGcaccaccaccacc 0.596 NA 2 4 --- --- --- --- NA NA NA NA NA NSUN7 79730 broad.mit.edu 37 4 40778252 40778253 + Frame_Shift_Ins INS - - T TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr4:40778252_40778253insT uc003gvj.3 + 7 1507_1508 c.1012_1013insT c.(1012-1014)CTTfs p.L338fs NSUN7_uc003gvi.3_Frame_Shift_Ins_p.L338fs NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 CTTGAAGACCCTTTTCACAAAA 0.287 NA 32 72 --- --- --- --- NA NA NA NA NA UBA6 55236 broad.mit.edu 37 4 68501182 68501182 + Frame_Shift_Del DEL A A - TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr4:68501182delA uc003hdg.3 - 20 1883 c.1831delT c.(1831-1833)TACfs p.Y611fs UBA6_uc003hdh.1_Frame_Shift_Del_p.Y137fs NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 611 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TGACTATTGTAAGACTCAGTC 0.323 NA 25 31 --- --- --- --- NA NA NA NA NA ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Frame_Shift_Del DEL T T - TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr6:52883129delT uc003pbh.2 - 8 1152 c.662delA c.(661-663)AAGfs p.K221fs ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN intestinal cell kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1) 5 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 NA 7 325 --- --- --- --- NA NA NA NA NA XKR4 114786 broad.mit.edu 37 8 56436672 56436672 + Frame_Shift_Del DEL C C - TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq aea06070-5a30-4f58-8117-68f669dbe7bf 35b3b1be-aabe-461a-b26a-44c7c39542c3 g.chr8:56436672delC uc003xsf.2 + 3 1871 c.1839delC c.(1837-1839)GACfs p.D613fs NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 613 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) ATGTTTTGGACCGAAGCCTCC 0.478 NA 27 61 --- --- --- --- NA NA NA NA NA