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 CATSPER4 378807 broad.mit.edu 37 1 26520352 26520352 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:26520352G>T uc010oez.1 + 3 432 c.432G>T c.(430-432)TGG>TGT p.W144C CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 144 Helical; Name=Segment S2; (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) TCCTTGGCTGGCTCAATGGCT 0.507 NA 14 95 1.3612e-06 1.65116e-06 0.003163 1 0 ARID1A 8289 broad.mit.edu 37 1 27099440 27099440 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:27099440A>G uc001bmv.1 + 14 4050 c.3677A>G c.(3676-3678)TAT>TGT p.Y1226C ARID1A_uc001bmt.1_Missense_Mutation_p.Y1225C|ARID1A_uc001bmu.1_Missense_Mutation_p.Y1226C|ARID1A_uc001bmw.1_Missense_Mutation_p.Y843C|ARID1A_uc001bmx.1_Missense_Mutation_p.Y72C|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1226 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.M1220fs*9(1)|p.M1220fs*2(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CGCATGTCCTATGAGCCAAAT 0.488 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 23 58 0 0 0.00333 0 0 RABGGTB 5876 broad.mit.edu 37 1 76253189 76253189 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:76253189C>G uc001dgy.1 + 2 82 c.11C>G c.(10-12)CCA>CGA p.P4R RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_5'UTR|SNORD45A_uc009wbu.1_5'Flank|SNORD45B_uc009wbv.1_5'Flank NM_004582 NP_004573 P53611 PGTB2_HUMAN RAB geranylgeranyltransferase, beta subunit 4 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity ovary(1) 1 AAGGGCACTCCACAGAAGGAT 0.378 NA 9 50 0 0 0.006214 0 0 TTLL7 79739 broad.mit.edu 37 1 84412840 84412840 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:84412840A>G uc001djc.2 - 6 869 c.473T>C c.(472-474)ATA>ACA p.I158T TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 158 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TGGTTTCACTATAAAAGTTTT 0.328 NA 11 35 0 0 0.001368 0 0 TTLL7 79739 broad.mit.edu 37 1 84415555 84415555 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:84415555T>A uc001djc.2 - 4 668 c.272A>T c.(271-273)AAT>ATT p.N91I TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 91 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TACCTGATAATTTTGCAGCTC 0.338 NA 6 45 0 0 0.001168 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448933 89448933 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:89448933G>C uc009wcx.2 - 3 1293 c.577C>G c.(577-579)CCA>GCA p.P193A CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.P193A NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 193 nucleotide binding|RNA binding 0 CTTCGAGGTGGACCTCCATAA 0.488 NA 4 131 0 0 0.009096 0 0 VCAM1 7412 broad.mit.edu 37 1 101186081 101186081 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:101186081G>A uc001dti.2 + 2 234 c.114G>A c.(112-114)CAG>CAA p.Q38Q VCAM1_uc001dtj.2_Silent_p.Q38Q|VCAM1_uc010ouj.1_Silent_p.Q38Q NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 38 Ig-like C2-type 1.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ATCTTGCTCAGATTGGTGACT 0.433 NA 9 74 0 0 0.010729 0 0 GJA5 2702 broad.mit.edu 37 1 147230556 147230556 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:147230556G>T uc001eps.1 - 2 932 c.791C>A c.(790-792)CCC>CAC p.P264H GJA5_uc001ept.1_Missense_Mutation_p.P264H NM_181703 NP_859054 P36382 CXA5_HUMAN connexin 40 264 Cytoplasmic (Potential). angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane ovary(1) 1 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) AAAGTCGGGGGGTGGTGTGCA 0.527 NA 18 98 5.03518e-11 6.9276e-11 0.007413 1 0 FLG 2312 broad.mit.edu 37 1 152278958 152278958 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:152278958G>A uc001ezu.1 - 3 8440 c.8404C>T c.(8404-8406)CAC>TAC p.H2802Y NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2802 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATGCTCGTGGTGGTACCCC 0.607 NA Ichthyosis 64 607 0 0 0.00361 0 0 FLG 2312 broad.mit.edu 37 1 152280504 152280504 + Silent SNP G G A rs141571186 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:152280504G>A uc001ezu.1 - 3 6894 c.6858C>T c.(6856-6858)CAC>CAT p.H2286H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2286 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGTCTTCGTGATGGGACC 0.557 NA Ichthyosis 42 659 0 0 0.00361 0 0 TRIM46 80128 broad.mit.edu 37 1 155150586 155150586 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:155150586C>A uc001fhs.1 + 6 1101 c.1018C>A c.(1018-1020)CAG>AAG p.Q340K RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.Q340K|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.Q214K|TRIM46_uc001fhu.1_Missense_Mutation_p.Q317K|TRIM46_uc009wpg.1_Missense_Mutation_p.Q327K|TRIM46_uc001fhv.3_Missense_Mutation_p.Q327K|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 340 Potential. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGAATGCCAGCAGGAGCGGCT 0.637 NA 21 50 3.51602e-12 4.93687e-12 0.008871 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156926306 156926306 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:156926306C>T uc001fqo.2 - 18 2497 c.1457G>A c.(1456-1458)CGT>CAT p.R486H ARHGEF11_uc001fqn.2_Missense_Mutation_p.R526H|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R15H NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 486 RGSL. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCTCGAAGACGGATCCCAGC 0.527 NA 13 172 0 0 0.001855 0 0 BLZF1 8548 broad.mit.edu 37 1 169349788 169349788 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:169349788T>C uc001gfx.1 + 5 1175 c.738T>C c.(736-738)GCT>GCC p.A246A BLZF1_uc001gfy.2_Silent_p.A246A|BLZF1_uc009wvp.1_Silent_p.A223A NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 246 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) CACACGGGGCTATACAAGATC 0.403 NA 4 81 0 0 0.009096 0 0 PRG4 10216 broad.mit.edu 37 1 186276429 186276429 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:186276429C>T uc001gru.3 + 7 1629 c.1578C>T c.(1576-1578)ACC>ACT p.T526T PRG4_uc001grt.3_Silent_p.T485T|PRG4_uc009wyl.2_Silent_p.T433T|PRG4_uc009wym.2_Silent_p.T392T|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 526 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|23. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CACCCACCACCACCAAGTCTG 0.637 NA 4 131 0 0 0.009096 0 0 CACNA1S 779 broad.mit.edu 37 1 201029913 201029913 + Missense_Mutation SNP C C T rs142102094 by1000genomes TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:201029913C>T uc001gvv.2 - 26 3514 c.3287G>A c.(3286-3288)CGC>CAC p.R1096H NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1096 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTCAGTGGGCGGGCCTTCAG 0.532 NA 5 368 0 0 0.001168 0 0 RYR2 6262 broad.mit.edu 37 1 237947181 237947181 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:237947181C>G uc001hyl.1 + 90 12289 c.12169C>G c.(12169-12171)CAC>GAC p.H4057D RYR2_uc010pya.1_Missense_Mutation_p.H472D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4057 EF-hand. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGCCATAAGCACTACACGCA 0.468 NA 5 23 0 0 0.000602 0 0 CHRM3 1131 broad.mit.edu 37 1 240071045 240071045 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:240071045G>T uc001hyp.2 + 5 1073 c.294G>T c.(292-294)CAG>CAT p.Q98H NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 98 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TCAACAAGCAGCTGAAGACGG 0.468 NA 17 36 2.4624e-09 3.25672e-09 0.008871 1 0 OR6F1 343169 broad.mit.edu 37 1 247875362 247875362 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:247875362A>T uc001idj.1 - 1 696 c.696T>A c.(694-696)AGT>AGA p.S232R NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGCTCCGGCCACTGGCAGAGG 0.522 NA 13 98 0 0 0.001368 0 0 OR14C36 127066 broad.mit.edu 37 1 248512610 248512610 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr1:248512610C>T uc010pzl.1 + 1 534 c.534C>T c.(532-534)GAC>GAT p.D178D NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TCTTCTGTGACATCCCCTCTC 0.512 NA 24 61 0 0 0.00632 0 0 CDH23 64072 broad.mit.edu 37 10 73544152 73544152 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:73544152G>A uc001jrx.3 + 40 5854 c.5477G>A c.(5476-5478)CGG>CAG p.R1826Q NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1826 Cadherin 17.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GCCCGTGACCGGGGGATGCCC 0.617 NA 10 60 0 0 0.010729 0 0 SH2D4B 387694 broad.mit.edu 37 10 82329944 82329944 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:82329944G>T uc001kck.1 + 2 649 c.219G>T c.(217-219)GGG>GGT p.G73G SH2D4B_uc001kcl.1_Silent_p.G24G NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 72 0 Colorectal(32;0.229) GGCTCCTAGGGGCAGATGGCG 0.517 NA 24 102 4.47668e-21 6.84865e-21 0.003954 1 0 RNLS 55328 broad.mit.edu 37 10 90342049 90342049 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:90342049G>C uc001kfe.2 - 2 269 c.134C>G c.(133-135)ACA>AGA p.T45R RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Missense_Mutation_p.T45R NM_001031709 NP_001026879 Q5VYX0 RNLS_HUMAN renalase isoform 1 45 extracellular region oxidoreductase activity ovary(1) 1 ACTGCAGGCTGTAGTCATTCT 0.443 NA 7 28 0 0 0.001984 0 0 SLIT1 6585 broad.mit.edu 37 10 98807524 98807524 + Nonsense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:98807524A>T uc001kmw.2 - 16 1809 c.1557T>A c.(1555-1557)TGT>TGA p.C519* SLIT1_uc009xvh.1_Nonsense_Mutation_p.C529* NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 519 LRRNT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CGTTGGCCTCACAGCGGCACT 0.642 NA 20 55 0 0 0.008871 0 0 WNT8B 7479 broad.mit.edu 37 10 102242322 102242322 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:102242322G>A uc001krb.2 + 6 919 c.805G>A c.(805-807)GGC>AGC p.G269S NM_003393 NP_003384 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, 269 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity ovary(1)|breast(1)|large_intestine(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) GGGCACCGAAGGCCGAGAGTG 0.706 NA OREG0020440 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 0.004672 0 0 SUFU 51684 broad.mit.edu 37 10 104356990 104356990 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:104356990G>T uc001kvy.1 + 7 996 c.850G>T c.(850-852)GAT>TAT p.D284Y SUFU_uc001kvw.1_Missense_Mutation_p.D284Y|SUFU_uc001kvx.2_Missense_Mutation_p.D284Y|SUFU_uc009xxe.1_RNA|SUFU_uc009xxf.1_RNA NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN suppressor of fused 284 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding central_nervous_system(4)|skin(2)|breast(1) 7 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GCCCCCCGAGGATGACGAGGA 0.607 NA D|F|S medulloblastoma medulloblastoma Medulloblastoma_associated_with_Germline_SUFU_Mutation OREG0020482 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 127 5.50884e-06 6.56577e-06 0.001368 1 0 SLK 9748 broad.mit.edu 37 10 105770586 105770586 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:105770586G>A uc001kxo.1 + 13 2831 c.2797G>A c.(2797-2799)GTG>ATG p.V933M SLK_uc001kxp.1_Intron NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 933 Potential. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TATAAATGAAGTGGAGAAAGC 0.438 NSCLC(111;540 1651 1927 4474 17706) NA 5 35 0 0 0.001168 0 0 DMBT1 1755 broad.mit.edu 37 10 124353097 124353097 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr10:124353097G>A uc001lgk.1 + 21 2619 c.2513G>A c.(2512-2514)CGG>CAG p.R838Q DMBT1_uc001lgl.1_Missense_Mutation_p.R828Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R838Q|DMBT1_uc010qtx.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 838 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCCCAGTCCCGGCCGACACCC 0.522 Ovarian(182;93 2026 18125 22222 38972) NA 53 347 0 0 0.00361 0 0 OSBPL5 114879 broad.mit.edu 37 11 3125497 3125497 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:3125497G>T uc001lxk.2 - 10 1328 c.1170C>A c.(1168-1170)CCC>CCA p.P390P OSBPL5_uc010qxq.1_Silent_p.P301P|OSBPL5_uc009ydw.2_Silent_p.P322P|OSBPL5_uc001lxl.2_Silent_p.P322P|OSBPL5_uc009ydx.2_Silent_p.P414P NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 390 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GTACGAACGTGGGTAGCACCA 0.627 NA 8 68 0.000157383 0.000183316 0.00308 1 0 ART5 116969 broad.mit.edu 37 11 3660985 3660985 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:3660985G>A uc001lyb.1 - 2 1067 c.674C>T c.(673-675)CCC>CTC p.P225L ART5_uc001lyc.1_Missense_Mutation_p.P225L|ART5_uc001lyd.2_Intron|ART5_uc009yea.2_Intron NM_053017 NP_443750 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 precursor 225 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCATGGGGGGGAATCAGCAC 0.502 NA 5 99 0 0 0.001168 0 0 OR52A1 23538 broad.mit.edu 37 11 5172979 5172979 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:5172979G>A uc010qyy.1 - 1 621 c.621C>T c.(619-621)TTC>TTT p.F207F NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 207 Helical; Name=5; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCTACAGTGAAGGCCACAA 0.423 NA 16 101 0 0 0.004007 0 0 ILK 3611 broad.mit.edu 37 11 6631242 6631242 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:6631242G>C uc001mee.2 + 11 1189 c.1054G>C c.(1054-1056)GCA>CCA p.A352P ILK_uc001mef.2_Missense_Mutation_p.A352P|ILK_uc010rap.1_Missense_Mutation_p.A218P|ILK_uc010raq.1_Missense_Mutation_p.A291P|ILK_uc001meg.2_Missense_Mutation_p.A198P|ILK_uc001meh.2_Missense_Mutation_p.A352P|ILK_uc001mei.2_5'Flank NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 352 Protein kinase. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) TCGCATGTATGCACCTGCCTG 0.507 NA 3 70 0 0 0.000602 0 0 SPON1 10418 broad.mit.edu 37 11 14101549 14101549 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:14101549C>A uc001mle.2 + 6 1196 c.658C>A c.(658-660)CAC>AAC p.H220N NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 220 Spondin. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) CGAGAAGACACACCCAAAGGA 0.488 NA 10 52 4.68919e-08 5.97071e-08 0.008291 1 0 RAG2 5897 broad.mit.edu 37 11 36614887 36614887 + Nonsense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:36614887G>A uc001mwv.3 - 2 1020 c.832C>T c.(832-834)CAG>TAG p.Q278* C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 278 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) TTTTCAAGCTGATAGCCACCA 0.423 NA Familial_Hemophagocytic_Lymphohistiocytosis 6 75 0 0 0.001984 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798753 55798753 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:55798753C>A uc010riw.1 + 1 859 c.859C>A c.(859-861)CCA>ACA p.P287T NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) CATGTTTAATCCAATAATTTA 0.343 NA 4 30 1.024e-07 1.2958e-07 0.000602 1 0 OR8H1 219469 broad.mit.edu 37 11 56058115 56058115 + Missense_Mutation SNP C C A rs142532321 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:56058115C>A uc010rje.1 - 1 424 c.424G>T c.(424-426)GCT>TCT p.A142S NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GTGACAAGAGCGCAACACAGC 0.443 NA 10 47 1.76689e-08 2.27807e-08 0.006214 1 0 GPHA2 170589 broad.mit.edu 37 11 64702312 64702312 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:64702312C>T uc001oca.2 - 4 378 c.323G>A c.(322-324)AGG>AAG p.R108K NM_130769 NP_570125 Q96T91 GPHA2_HUMAN glycoprotein hormone alpha 2 precursor 108 extracellular region hormone activity 0 GAGCTCCTCCCTCCGGCTCCC 0.617 NA 21 68 0 0 0.012319 0 0 SHANK2 22941 broad.mit.edu 37 11 70319334 70319334 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:70319334G>A uc001oqc.2 - 22 5268 c.5190C>T c.(5188-5190)ACC>ACT p.T1730T SHANK2_uc010rqn.1_Silent_p.T1142T|SHANK2_uc001opz.2_Silent_p.T1135T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Silent_p.T66T NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1351 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AAGGAGAGGCGGTGGCAGCAG 0.597 NA 16 99 0 0 0.003163 0 0 FAM168A 23201 broad.mit.edu 37 11 73141755 73141755 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:73141755T>A uc001otz.1 - 3 410 c.131A>T c.(130-132)AAT>ATT p.N44I FAM168A_uc001oty.1_Missense_Mutation_p.N44I|FAM168A_uc009ytp.1_Missense_Mutation_p.N44I NM_015159 NP_055974 Q92567 F168A_HUMAN hypothetical protein LOC23201 44 0 ACTGGGACTATTGGTGGGGTA 0.502 NA 53 106 0 0 0.00361 0 0 ATM 472 broad.mit.edu 37 11 108128265 108128265 + Nonsense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:108128265G>T uc001pkb.1 + 15 2693 c.2308G>T c.(2308-2310)GAA>TAA p.E770* ATM_uc009yxr.1_Nonsense_Mutation_p.E770* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 770 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.E770*(1) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GACAAATGAGGAATTCAGAAT 0.299 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 21 48 3.01185e-09 3.95788e-09 0.003954 1 0 OR8D4 338662 broad.mit.edu 37 11 123777637 123777637 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:123777637T>A uc010saa.1 + 1 499 c.499T>A c.(499-501)TCT>ACT p.S167T NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ACTCAGGTTGTCTTTCTGTGG 0.423 NA 16 184 0 0 0.004007 0 0 WNT5B 81029 broad.mit.edu 37 12 1755170 1755170 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:1755170C>G uc009zdq.2 + 5 1074 c.832C>G c.(832-834)CTG>GTG p.L278V WNT5B_uc001qjj.2_Missense_Mutation_p.L278V|WNT5B_uc001qjk.2_Missense_Mutation_p.L278V|WNT5B_uc001qjl.2_Missense_Mutation_p.L278V NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, 278 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CCCGGAGGACCTGGTCTATGT 0.687 NA 14 44 0 0 0.003163 0 0 WBP11 51729 broad.mit.edu 37 12 14947586 14947586 + Silent SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:14947586A>G uc001rci.2 - 7 767 c.606T>C c.(604-606)CCT>CCC p.P202P NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 202 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 GACCAGGGGGAGGGCCAGGAG 0.512 NA 3 192 0 0 0.009096 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18716397 18716397 + Missense_Mutation SNP A A C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:18716397A>C uc001rdt.2 + 27 3860 c.3744A>C c.(3742-3744)CAA>CAC p.Q1248H PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.Q1289H|PIK3C2G_uc010sic.1_Missense_Mutation_p.Q1067H NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1248 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TTCACAGCCAACTTCAGAAGC 0.403 NA 4 79 0 0 0.009096 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 30 0.000442599 0.000504071 0.006214 1 0 CCNT1 904 broad.mit.edu 37 12 49087591 49087591 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:49087591C>T uc001rse.1 - 9 1729 c.1406G>A c.(1405-1407)GGA>GAA p.G469E LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.G184E NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 469 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 AGCTTTATCTCCACCTGCCAC 0.443 NA 23 72 0 0 0.00278 0 0 NAV3 89795 broad.mit.edu 37 12 78401192 78401192 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:78401192C>A uc001syp.2 + 8 2047 c.1874C>A c.(1873-1875)CCG>CAG p.P625Q NAV3_uc001syo.2_Missense_Mutation_p.P625Q NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 625 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CATAGCCACCCGAATACCGCG 0.478 NA HNSCC(70;0.22) 26 122 1.17739e-12 1.68787e-12 0.005443 1 0 GALNT4 8693 broad.mit.edu 37 12 89916917 89916917 + Silent SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr12:89916917A>G uc001tbd.2 - 1 1619 c.1410T>C c.(1408-1410)GCT>GCC p.A470A POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Silent_p.A467A|GALNT4_uc010suo.1_Silent_p.A162A NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 470 Ricin B-type lectin.|Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 GTGAAAGGTTAGCACCTGTGG 0.418 NA 18 53 0 0 0.006122 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679151 37679151 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr13:37679151C>T uc001uwm.1 - 1 651 c.243G>A c.(241-243)CAG>CAA p.Q81Q NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 81 Protein kinase. 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) TGTCTTTTTCCTGACCATACC 0.468 NA 17 68 0 0 0.00499 0 0 OR4L1 122742 broad.mit.edu 37 14 20528750 20528750 + Missense_Mutation SNP C C A rs35605617 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:20528750C>A uc001vwn.1 + 1 547 c.547C>A c.(547-549)CTT>ATT p.L183I NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGATCTTCCCCTTGTGATCAA 0.398 NA 17 200 1.33834e-09 1.78155e-09 0.007413 1 0 TMEM55B 90809 broad.mit.edu 37 14 20926775 20926775 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:20926775G>A uc001vxl.2 - 7 930 c.777C>T c.(775-777)GGC>GGT p.G259G TMEM55B_uc001vxk.2_Silent_p.G266G NM_144568 NP_653169 Q86T03 TM55B_HUMAN transmembrane protein 55B isoform 2 259 Helical; (Potential). integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) AAAGAGCCCGGCCCAAACACA 0.562 NA 3 55 0 0 0.009096 0 0 MYH7 4625 broad.mit.edu 37 14 23886428 23886429 + Nonsense_Mutation DNP TG TG AA rs61737803 byFrequency TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:23886428_23886429TG>AA uc001wjx.2 - 32 4558_4559 c.4452_4453CA>TT c.(4450-4455)CTCAAG>CTTTAG p.K1485* NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1485 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TAGGCGTTCTTGAGTTTGAAGA 0.589 NA 18 157 0 0 0.004672 0 0 C14orf182 283551 broad.mit.edu 37 14 50458973 50458973 + Splice_Site SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:50458973C>A uc001wxi.1 - 3 2093 c.372_splice c.e3+1 NM_001012706 NP_001012724 A1A4T8 CN182_HUMAN hypothetical protein LOC283551 0 ATTCAACTTACCTCATTCATT 0.398 NA 25 84 1.04121e-07 1.3095e-07 0.005443 1 0 PELI2 57161 broad.mit.edu 37 14 56763464 56763464 + Silent SNP G G A rs139388844 byFrequency TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:56763464G>A uc001xch.2 + 6 1129 c.843G>A c.(841-843)CGG>CGA p.R281R NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 281 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding p.R281Q(1) ovary(1) 1 ACGCCGCCCGGCCTCAGTGTC 0.582 NA 13 33 0 0 0.00245 0 0 RHOJ 57381 broad.mit.edu 37 14 63735888 63735888 + Splice_Site SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:63735888T>C uc001xgb.1 + 2 680 c.237_splice c.e2+2 p.Q79_splice NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) GCGGGACAGGTACATTTTTAT 0.398 NA 5 74 0 0 0.001984 0 0 SYNE2 23224 broad.mit.edu 37 14 64457753 64457753 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:64457753G>C uc001xgm.2 + 21 2796 c.2566G>C c.(2566-2568)GAA>CAA p.E856Q SYNE2_uc001xgl.2_Missense_Mutation_p.E856Q NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 856 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATCCCAGAAGGAACTTGAATC 0.433 NA 27 50 0 0 0.007291 0 0 SMOC1 64093 broad.mit.edu 37 14 70480191 70480191 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:70480191G>T uc001xls.1 + 10 1282 c.1029G>T c.(1027-1029)GCG>GCT p.A343A SMOC1_uc001xlt.1_Silent_p.A343A NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 343 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ACTCAGCAGCGCCCACTGGAG 0.512 NA OREG0022771 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 88 0.00829132 0.00889906 0.008291 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70712645 70712645 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:70712645A>T uc010ttg.1 - 1 1874 c.1223T>A c.(1222-1224)TTT>TAT p.F408Y NR_003951 SubName: Full=ADAM21-like protein; 0 CTGCAAAGTAAAATGATCTTG 0.393 NA 25 84 0 0 0.003755 0 0 SPATA7 55812 broad.mit.edu 37 14 88897527 88897527 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:88897527A>T uc001xwq.2 + 9 1191 c.1040A>T c.(1039-1041)CAG>CTG p.Q347L SPATA7_uc001xwr.2_Missense_Mutation_p.Q315L|SPATA7_uc001xws.2_Missense_Mutation_p.Q283L|SPATA7_uc001xwt.2_Missense_Mutation_p.Q241L|SPATA7_uc001xwu.2_Missense_Mutation_p.Q3L NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 347 response to stimulus|visual perception ovary(1) 1 GCAATGTGTCAGTATTCCCTG 0.264 NA 76 137 0 0 0.00361 0 0 DDX24 57062 broad.mit.edu 37 14 94526457 94526457 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:94526457C>A uc001ycj.2 - 5 1999 c.1900G>T c.(1900-1902)GCC>TCC p.A634S DDX24_uc010twq.1_Missense_Mutation_p.A591S|DDX24_uc010twr.1_Missense_Mutation_p.A384S NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 634 Helicase C-terminal. RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding p.A634A(1) ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TCCAGACGGGCAAACTGCTCC 0.517 NA 26 51 1.1804e-14 1.74087e-14 0.003954 1 0 AHNAK2 113146 broad.mit.edu 37 14 105404423 105404423 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:105404423C>T uc010axc.1 - 7 17485 c.17365G>A c.(17365-17367)GGC>AGC p.G5789S AHNAK2_uc001ypx.2_Missense_Mutation_p.G5689S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5789 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGTCCCAGGCCTGACCCTTTG 0.498 NA 11 46 0 0 0.003163 0 0 OCA2 4948 broad.mit.edu 37 15 28235784 28235784 + Nonsense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr15:28235784T>A uc001zbh.3 - 10 1164 c.1054A>T c.(1054-1056)AGA>TGA p.R352* OCA2_uc010ayv.2_Intron NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 352 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCCAGAGTTCTGTGCACGATC 0.542 NA Oculocutaneous_Albinism 28 129 0 0 0.005443 0 0 CAPN3 825 broad.mit.edu 37 15 42684893 42684893 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr15:42684893C>G uc001zpn.1 + 7 1308 c.1002C>G c.(1000-1002)CAC>CAG p.H334Q CAPN3_uc001zpk.1_Missense_Mutation_p.H107Q|CAPN3_uc001zpl.1_Missense_Mutation_p.H247Q|CAPN3_uc010udf.1_Missense_Mutation_p.H247Q|CAPN3_uc010udg.1_Missense_Mutation_p.H199Q|CAPN3_uc001zpo.1_Missense_Mutation_p.H334Q|CAPN3_uc001zpp.1_Missense_Mutation_p.H286Q NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 334 Calpain catalytic. By similarity. H -> Q (in LGMD2A). muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TCAGAGGTCACGCCTACTCTG 0.567 NA 12 36 0 0 0.001368 0 0 CDAN1 146059 broad.mit.edu 37 15 43021262 43021262 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr15:43021262G>A uc001zql.2 - 19 2721 c.2604C>T c.(2602-2604)TTC>TTT p.F868F CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.F194F NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 868 F -> I (in CDA1). integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TTTCTGCCACGAACTCTACGG 0.547 NA 15 117 0 0 0.004007 0 0 TPSD1 23430 broad.mit.edu 37 16 1306688 1306688 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:1306688C>T uc002clb.1 + 2 263 c.254C>T c.(253-255)CCG>CTG p.P85L TPSD1_uc010brm.1_Missense_Mutation_p.P23L NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 85 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TGCGTGGAACCGTGAGTCTCC 0.697 NA 6 52 0 0 0.00308 0 0 UNKL 64718 broad.mit.edu 37 16 1453292 1453292 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:1453292C>G uc010bro.1 - 3 349 c.341G>C c.(340-342)CGT>CCT p.R114P UNKL_uc002clq.2_Missense_Mutation_p.R114P NM_001037125 NP_001032202 Q9H9P5 UNKL_HUMAN unkempt homolog (Drosophila)-like isoform 2 114 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding 0 Hepatocellular(780;0.0893) TTTGTAGTAACGCAGGTGGTA 0.612 NA 8 26 0 0 0.006214 0 0 TFAP4 7023 broad.mit.edu 37 16 4310225 4310225 + Missense_Mutation SNP T T G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:4310225T>G uc010uxg.1 - 6 942 c.688A>C c.(688-690)ACC>CCC p.T230P NM_003223 NP_003214 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer 230 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GGGTGGTGGGTGGGGGCCGGA 0.622 NA 4 57 0 0 0.004482 0 0 A2BP1 54715 broad.mit.edu 37 16 7637286 7637286 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:7637286A>G uc002cys.2 + 7 1440 c.452A>G c.(451-453)AAT>AGT p.N151S A2BP1_uc010buf.1_Missense_Mutation_p.N151S|A2BP1_uc002cyr.1_Missense_Mutation_p.N150S|A2BP1_uc002cyt.2_Missense_Mutation_p.N151S|A2BP1_uc010uxz.1_Missense_Mutation_p.N194S|A2BP1_uc010uya.1_Missense_Mutation_p.N139S|A2BP1_uc002cyv.1_Missense_Mutation_p.N151S|A2BP1_uc010uyb.1_Missense_Mutation_p.N151S|A2BP1_uc002cyw.2_Missense_Mutation_p.N171S|A2BP1_uc002cyy.2_Missense_Mutation_p.N171S|A2BP1_uc002cyx.2_Missense_Mutation_p.N171S|A2BP1_uc010uyc.1_Missense_Mutation_p.N171S NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 151 RRM. Interaction with RNA. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) ATTATTTTTAATGAGCGAGGC 0.289 NA 7 67 0 0 0.006214 0 0 IL4R 3566 broad.mit.edu 37 16 27374684 27374684 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:27374684C>T uc002don.2 + 11 2253 c.2011C>T c.(2011-2013)CCA>TCA p.P671S IL4R_uc002dop.3_Missense_Mutation_p.P656S|IL4R_uc010bxy.2_Missense_Mutation_p.P671S|IL4R_uc002doo.2_Missense_Mutation_p.P511S NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 671 Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 CTCACATCTCCCAAGCAGCTC 0.642 NA 9 47 0 0 0.010729 0 0 ZNF423 23090 broad.mit.edu 37 16 49672130 49672130 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:49672130G>T uc002efs.2 - 5 1231 c.933C>A c.(931-933)CTC>CTA p.L311L ZNF423_uc010vgn.1_Silent_p.L194L NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 311 C2H2-type 7. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGATATGGGCGAGCAGTGTGT 0.607 NA 19 40 1.96292e-10 2.63006e-10 0.010504 1 0 NOD2 64127 broad.mit.edu 37 16 50756544 50756544 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:50756544A>T uc002egm.1 + 8 2831 c.2726A>T c.(2725-2727)AAC>ATC p.N909I NOD2_uc010cbl.1_Missense_Mutation_p.N659I|NOD2_uc010cbm.1_Missense_Mutation_p.N659I|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_RNA|NOD2_uc010cbq.1_Missense_Mutation_p.N47I|NOD2_uc010cbr.1_RNA|NOD2_uc010vgq.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 909 LRR 5. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) TTCTGGGGCAACAGAGTGGGT 0.527 NA 100 334 0 0 0.00361 0 0 GPR97 222487 broad.mit.edu 37 16 57717908 57717908 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:57717908C>T uc002emh.2 + 9 1049 c.946C>T c.(946-948)CTG>TTG p.L316L GPR97_uc010vhv.1_Silent_p.L196L|GPR97_uc010cdd.2_Intron|GPR97_uc010cde.2_Intron NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 316 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 GGGTGGCAGCCTGTTCCTCCT 0.602 NA 26 57 0 0 0.003954 0 0 PMFBP1 83449 broad.mit.edu 37 16 72166806 72166806 + Nonsense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr16:72166806C>A uc002fcc.3 - 10 1460 c.1288G>T c.(1288-1290)GAG>TAG p.E430* PMFBP1_uc002fcd.2_Nonsense_Mutation_p.E430*|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Nonsense_Mutation_p.E285* NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 430 Potential. ovary(2) 2 Ovarian(137;0.179) TTCTCCAGCTCCTTCTCCTTT 0.512 NA 48 89 1.22102e-19 1.85414e-19 0.00361 1 0 GUCY2D 3000 broad.mit.edu 37 17 7910764 7910764 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:7910764A>G uc002gjt.2 + 6 1558 c.1484A>G c.(1483-1485)CAA>CGA p.Q495R NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 495 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CTTCACATGCAAATGGTCTCC 0.597 NA 20 121 0 0 0.00278 0 0 MYH3 4621 broad.mit.edu 37 17 10541609 10541609 + Silent SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:10541609C>G uc002gmq.1 - 26 3557 c.3480G>C c.(3478-3480)ACG>ACC p.T1160T NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1160 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GCTCTATCTGCGTGGAGGTGA 0.667 NA 18 45 0 0 0.008871 0 0 PPM1D 8493 broad.mit.edu 37 17 58711300 58711300 + Missense_Mutation SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:58711300T>C uc002iyt.1 + 3 1010 c.788T>C c.(787-789)ATT>ACT p.I263T PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 263 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AGCACAGTTATTGACCAGATT 0.378 NA 8 85 0 0 0.006214 0 0 TNRC6C 57690 broad.mit.edu 37 17 76046101 76046101 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:76046101G>A uc002jud.2 + 4 1558 c.958G>A c.(958-960)GTT>ATT p.V320I TNRC6C_uc002juf.2_Missense_Mutation_p.V320I|TNRC6C_uc002jue.2_Missense_Mutation_p.V320I NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 320 Sufficient for interaction with argonaute family proteins.|Gly-rich. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CAACAATGGCGTTGGTAATAT 0.557 NA 6 73 0 0 0.001984 0 0 CBX2 84733 broad.mit.edu 37 17 77758643 77758643 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr17:77758643G>A uc002jxc.2 + 5 1443 c.1401G>A c.(1399-1401)TCG>TCA p.S467S NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 467 Poly-Ser. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GTAGCAGCTCGGACTCCGACC 0.682 NA 8 21 0 0 0.00308 0 0 DSG4 147409 broad.mit.edu 37 18 28991245 28991245 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr18:28991245C>G uc002kwq.2 + 15 2324 c.2189C>G c.(2188-2190)TCG>TGG p.S730W DSG4_uc002kwr.2_Missense_Mutation_p.S749W NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 730 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGAGGTGTATCGGGAGTGGAG 0.468 NA 29 93 0 0 0.002836 0 0 ASXL3 80816 broad.mit.edu 37 18 31324952 31324952 + Missense_Mutation SNP A A C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr18:31324952A>C uc010dmg.1 + 12 5195 c.5140A>C c.(5140-5142)AGT>CGT p.S1714R ASXL3_uc002kxq.2_Missense_Mutation_p.S1421R NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1714 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TTCCACCTCAAGTCCCATGGA 0.552 NA 20 68 0 0 0.008871 0 0 ALPK2 115701 broad.mit.edu 37 18 56196383 56196383 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr18:56196383T>A uc002lhj.3 - 6 5655 c.5441A>T c.(5440-5442)CAT>CTT p.H1814L ALPK2_uc002lhk.1_Missense_Mutation_p.H1145L NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1814 Ig-like 2. H -> R (in Ref. 1; BX647796). ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 AGAATCTTCATGAATTTCTGC 0.393 NA 18 98 0 0 0.007413 0 0 ADNP2 22850 broad.mit.edu 37 18 77895908 77895908 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr18:77895908G>T uc002lnw.2 + 4 3067 c.2612G>T c.(2611-2613)GGC>GTC p.G871V NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 871 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GGGAGCACCGGCAAGCGAGTG 0.577 NA 11 56 1.08611e-07 1.34941e-07 0.010729 1 0 SHC2 25759 broad.mit.edu 37 19 436408 436408 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:436408G>A uc002loq.3 - 6 798 c.798C>T c.(796-798)TAC>TAT p.Y266Y SHC2_uc002lop.3_Silent_p.Y7Y NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 266 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTGGCGACGTAGGCCACGT 0.716 NA 7 54 0 0 0.006214 0 0 KEAP1 9817 broad.mit.edu 37 19 10610139 10610139 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:10610139C>T uc002moq.1 - 2 727 c.571G>A c.(571-573)GCT>ACT p.A191T KEAP1_uc002mor.1_Missense_Mutation_p.A191T NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 191 BACK. 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) ATCTGCTCAGCGAAGTTGGCG 0.607 NA 6 40 0 0 0.001984 0 0 RFX1 5989 broad.mit.edu 37 19 14076266 14076266 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:14076266C>A uc002mxv.2 - 16 2478 c.2206G>T c.(2206-2208)GTG>TTG p.V736L NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 736 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CTCACCTTCACCCGCAGCATC 0.617 NA 45 148 1.11015e-26 1.75062e-26 0.00361 1 0 GTPBP3 84705 broad.mit.edu 37 19 17451852 17451852 + Splice_Site SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:17451852G>T uc010eas.2 + 8 1040 c.975_splice c.e8-1 p.R325_splice GTPBP3_uc010xpo.1_Splice_Site_p.R347_splice|GTPBP3_uc002ngh.3_Intron|GTPBP3_uc002ngg.3_Splice_Site_p.R357_splice|GTPBP3_uc002ngi.3_Splice_Site NM_032620 NP_116009 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) isoform V tRNA modification mitochondrion GTP binding|GTPase activity skin(1) 1 TGCTCCCGCAGGCTAGAGCAG 0.612 NA 13 47 9.05144e-12 1.26228e-11 0.001855 1 0 ZNF506 440515 broad.mit.edu 37 19 19906467 19906467 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:19906467T>A uc010eci.2 - 4 377 c.229A>T c.(229-231)ATG>TTG p.M77L ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.M45L NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 TGAGAATACATAACTGAAAGA 0.303 NA 9 22 0 0 0.004482 0 0 ZNF98 148198 broad.mit.edu 37 19 22574896 22574896 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:22574896C>T uc002nqt.2 - 4 1263 c.1141G>A c.(1141-1143)GAA>AAA p.E381K NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 381 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CCACATTCTTCACACTTGTAG 0.383 NA 5 30 0 0 0.010729 0 0 HAMP 57817 broad.mit.edu 37 19 35775872 35775872 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:35775872C>A uc002nyw.2 + 3 253 c.182C>A c.(181-183)ACC>AAC p.T61N NM_021175 NP_066998 P81172 HEPC_HUMAN hepcidin antimicrobial peptide preproprotein 61 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity central_nervous_system(1) 1 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) AGGCGAGACACCCACTTCCCC 0.597 NA 18 186 1.10513e-12 1.59544e-12 0.002299 1 0 SBSN 374897 broad.mit.edu 37 19 36019165 36019165 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:36019165C>A uc002oae.1 - 1 89 c.19G>T c.(19-21)GTC>TTC p.V7F SBSN_uc002oad.1_Missense_Mutation_p.V7F NM_198538 NP_940940 Q6UWP8 SBSN_HUMAN suprabasin isoform 2 precursor 7 extracellular region ovary(1) 1 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGGAGCCGACCAGACGTGCA 0.592 NA 12 22 7.03913e-09 9.13304e-09 0.001368 1 0 KLK7 5650 broad.mit.edu 37 19 51483496 51483496 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:51483496C>A uc002puo.2 - 4 571 c.469G>T c.(469-471)GTG>TTG p.V157L KLK7_uc002pup.2_Missense_Mutation_p.V157L|KLK7_uc010yco.1_Missense_Mutation_p.V31L|KLK7_uc010eok.2_Missense_Mutation_p.V85L NM_139277 NP_644806 P49862 KLK7_HUMAN stratum corneum chymotryptic enzyme 157 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) ggCCACCTACCATCTGGGCTC 0.338 NA 9 14 0.000442599 0.000504071 0.006214 1 0 ZNF610 162963 broad.mit.edu 37 19 52869067 52869067 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:52869067T>A uc002pyx.3 + 6 842 c.436T>A c.(436-438)TAC>AAC p.Y146N ZNF610_uc002pyy.3_Missense_Mutation_p.Y146N|ZNF610_uc002pyz.3_Missense_Mutation_p.Y103N|ZNF610_uc002pza.2_Missense_Mutation_p.Y146N NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AAGGAAAATTTACAGAAGTAA 0.348 NA 16 124 0 0 0.00499 0 0 RDH13 112724 broad.mit.edu 37 19 55556498 55556498 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:55556498C>A uc002qio.3 - 7 1125 c.940G>T c.(940-942)GCC>TCC p.A314S RDH13_uc002qip.2_Missense_Mutation_p.A243S|RDH13_uc010esr.1_RNA NM_001145971 NP_001139443 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 isoform 1 314 binding|oxidoreductase activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) ACCAGGCGGGCACTTTCAGCC 0.622 NA 10 23 1.33987e-11 1.8559e-11 0.008291 1 0 AGBL5 60509 broad.mit.edu 37 2 27293105 27293105 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:27293105C>A uc002rie.2 + 15 2852 c.2635C>A c.(2635-2637)CCA>ACA p.P879T AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 879 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAATCTCCCCCACTGACTGT 0.498 NA 23 73 9.57634e-11 1.3001e-10 0.00333 1 0 BIRC6 57448 broad.mit.edu 37 2 32640261 32640261 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:32640261C>G uc010ezu.2 + 10 2036 c.1902C>G c.(1900-1902)AGC>AGG p.S634R NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 634 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TTCTTTATAGCATCAAGGAAT 0.363 Pancreas(94;175 1509 16028 18060 45422) NA 7 17 0 0 0.004482 0 0 NAT8 9027 broad.mit.edu 37 2 73868535 73868535 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:73868535A>T uc002sji.1 - 2 388 c.221T>A c.(220-222)CTG>CAG p.L74Q NM_003960 NP_003951 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 74 Helical; (Potential).|N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity ovary(1) 1 AAGGAACCACAGGGCAGGGAA 0.552 NA 30 84 0 0 0.012213 0 0 IL1RL2 8808 broad.mit.edu 37 2 102835488 102835488 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:102835488A>G uc002tbs.2 + 7 926 c.800A>G c.(799-801)AAC>AGC p.N267S IL1RL2_uc002tbt.2_Missense_Mutation_p.N149S NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 precursor 267 Extracellular (Potential).|Ig-like C2-type 3. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity ovary(2) 2 AGAGTCAATAACACTTTGGTG 0.378 NA 15 92 0 0 0.003163 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061723 103061723 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:103061723G>C uc002tbx.2 + 9 1479 c.995G>C c.(994-996)CGC>CCC p.R332P IL18RAP_uc010fiz.2_Missense_Mutation_p.R190P NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 332 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 CGTGATCTTCGCAGGAAGTTT 0.423 NA 11 42 0 0 0.008291 0 0 MYO7B 4648 broad.mit.edu 37 2 128384580 128384580 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:128384580C>T uc002top.2 + 31 4221 c.4168C>T c.(4168-4170)CTG>TTG p.L1390L MYO7B_uc002toq.1_Silent_p.L243L|MYO7B_uc002tor.1_Silent_p.L243L NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1390 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGTCACACCACTGGCCGTGCG 0.612 NA 5 12 0 0 0.000602 0 0 NCKAP5 344148 broad.mit.edu 37 2 133486463 133486463 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:133486463C>T uc002ttp.2 - 18 5880 c.5506G>A c.(5506-5508)GGA>AGA p.G1836R NCKAP5_uc002ttq.2_Missense_Mutation_p.G517R NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1836 protein binding 0 TCAGCATATCCGAATGATGAG 0.537 NA 20 249 0 0 0.008871 0 0 ACVR1 90 broad.mit.edu 37 2 158637031 158637031 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:158637031C>A uc002tzm.3 - 5 488 c.149G>T c.(148-150)GGC>GTC p.G50V ACVR1_uc002tzn.3_Missense_Mutation_p.G50V|ACVR1_uc010fog.2_Missense_Mutation_p.G50V NM_001111067 NP_001104537 Q04771 ACVR1_HUMAN activin A receptor, type I precursor 50 Extracellular (Potential). BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) GCACTGCTGGCCTTCACAGTG 0.507 NA 8 70 2.17888e-05 2.5524e-05 0.006214 1 0 COL5A2 1290 broad.mit.edu 37 2 189912942 189912942 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:189912942C>A uc002uqk.2 - 45 3469 c.3194G>T c.(3193-3195)GGA>GTA p.G1065V COL5A2_uc010frx.2_Missense_Mutation_p.G641V NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1065 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TACACGTTCTCCAACAGCACC 0.343 NA 8 41 0.00448238 0.00486184 0.004482 1 0 CCDC150 284992 broad.mit.edu 37 2 197584364 197584364 + Silent SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:197584364A>T uc002utp.1 + 19 2274 c.2139A>T c.(2137-2139)TCA>TCT p.S713S CCDC150_uc010zgs.1_Silent_p.S360S|CCDC150_uc010zgt.1_Silent_p.S130S|CCDC150_uc002utq.1_Silent_p.S28S|CCDC150_uc002utr.1_Silent_p.S28S NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 713 Potential. 0 GGAGGGATTCAGAGATTGCAG 0.438 NA 5 18 0 0 0.000602 0 0 CDK5R2 8941 broad.mit.edu 37 2 219825610 219825610 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:219825610C>A uc002vjf.2 + 1 1213 c.1068C>A c.(1066-1068)GCC>GCA p.A356A NM_003936 NP_003927 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 356 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGCGCGGCCGGAACCAAGC 0.522 NA 6 9 0.00116845 0.00129476 0.001168 1 0 ALPI 248 broad.mit.edu 37 2 233323439 233323439 + Silent SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr2:233323439C>T uc002vst.3 + 10 1358 c.1281C>T c.(1279-1281)GAC>GAT p.D427D ALPI_uc002vsu.3_Silent_p.D338D NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 427 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGCGACCAGACGTGAATGAGA 0.662 NA 9 53 0 0 0.006214 0 0 SEL1L2 80343 broad.mit.edu 37 20 13847462 13847462 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:13847462G>T uc010gcf.2 - 15 1372 c.1290C>A c.(1288-1290)GCC>GCA p.A430A SEL1L2_uc002woq.3_Silent_p.A291A|SEL1L2_uc010zrl.1_Silent_p.A430A|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 430 Extracellular (Potential).|Sel1-like 8. integral to membrane binding ovary(2) 2 AATATTTGAAGGCAAGTTTAT 0.368 NA 13 86 5.50884e-06 6.56577e-06 0.001368 1 0 CST4 1472 broad.mit.edu 37 20 23667775 23667775 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:23667775G>T uc002wto.1 - 2 348 c.292C>A c.(292-294)CAG>AAG p.Q98K NM_001899 NP_001890 P01036 CYTS_HUMAN cystatin S precursor 98 extracellular region cysteine-type endopeptidase inhibitor activity breast(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) AAGTTGGGCTGGGACTTGGTA 0.582 NA 21 192 7.26314e-15 1.07894e-14 0.007291 1 0 FRG1B 284802 broad.mit.edu 37 20 29624070 29624070 + Missense_Mutation SNP G G A rs79198850 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:29624070G>A uc010ztl.1 + 1 36 c.4G>A c.(4-6)GCT>ACT p.A2T FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GCAGTTTATGGCTGTCAAATT 0.269 NA 3 27 0 0 0.001168 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:29628300G>A uc010ztl.1 + 3 244 c.212G>A c.(211-213)AGT>AAT p.S71N FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GAAGCAAAAAGTAAAACAGCA 0.358 NA 4 91 0 0 0.009096 0 0 PHF20 51230 broad.mit.edu 37 20 34526674 34526674 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:34526674G>T uc002xek.1 + 16 2467 c.2356G>T c.(2356-2358)GGG>TGG p.G786W NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 786 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) ACAGCACTCAGGGGAGGGGAG 0.547 NA 15 132 1.52009e-12 2.14909e-12 0.003163 1 0 PTPRT 11122 broad.mit.edu 37 20 40944458 40944458 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:40944458C>A uc002xkg.2 - 12 2228 c.2044G>T c.(2044-2046)GGT>TGT p.G682C PTPRT_uc010ggj.2_Missense_Mutation_p.G682C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 682 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTATTGTCACCCACTGTAAAT 0.517 NA 15 106 2.48551e-13 3.63949e-13 0.00499 1 0 EEF1A2 1917 broad.mit.edu 37 20 62122063 62122063 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr20:62122063C>A uc002yfd.1 - 5 899 c.798G>T c.(796-798)CGG>CGT p.R266R EEF1A2_uc002yfe.1_Silent_p.R266R|EEF1A2_uc010gkg.1_Silent_p.R266R NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 266 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CGGTCTCCACCCGGCCCACGG 0.662 NA 10 48 1.08611e-07 1.34941e-07 0.010729 1 0 BAGE2 85319 broad.mit.edu 37 21 11049593 11049593 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr21:11049593G>C uc002yit.1 - 4 516 c.308C>G c.(307-309)GCG>GGG p.A103G NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCGGGCTGTCGCACACTGCAC 0.383 NA 4 177 0 0 0.00308 0 0 PFKL 5211 broad.mit.edu 37 21 45741641 45741641 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr21:45741641G>T uc002zel.2 + 13 1280 c.1221G>T c.(1219-1221)GTG>GTT p.V407V PFKL_uc002zek.2_Silent_p.V454V|PFKL_uc002zem.2_5'UTR|PFKL_uc002zen.2_5'UTR NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 407 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) TCCTGAATGTGGGGGCCCCGG 0.642 NA 4 46 0.00024832 0.000285987 0.009096 1 0 PFKL 5211 broad.mit.edu 37 21 45741647 45741647 + Silent SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr21:45741647C>G uc002zel.2 + 13 1286 c.1227C>G c.(1225-1227)GCC>GCG p.A409A PFKL_uc002zek.2_Silent_p.A456A|PFKL_uc002zem.2_5'UTR|PFKL_uc002zen.2_5'UTR NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 409 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) ATGTGGGGGCCCCGGCGGCTG 0.642 NA 5 47 0 0 0.000602 0 0 PPARG 5468 broad.mit.edu 37 3 12434185 12434185 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:12434185A>G uc003bwx.2 + 4 644 c.553A>G c.(553-555)AAA>GAA p.K185E PPARG_uc003bwr.2_Missense_Mutation_p.K157E|PPARG_uc003bws.2_Missense_Mutation_p.K157E|PPARG_uc003bwu.2_Missense_Mutation_p.K157E|PPARG_uc003bwv.2_Missense_Mutation_p.K157E|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Missense_Mutation_p.K157E|PPARG_uc003bwt.1_Missense_Mutation_p.K157E|PPARG_uc003bww.1_Missense_Mutation_p.K185E NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 185 NR C4-type.|Nuclear receptor. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) GATCCACAAAAAAAGTAGAAA 0.363 NA T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension 8 55 0 0 0.004482 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307265 39307265 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:39307265G>A uc003cjl.2 - 2 828 c.736C>T c.(736-738)CCC>TCC p.P246S NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 246 Helical; Name=6; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) ACGTTGTAGGGTGTCCAGAAG 0.468 NA 13 40 0 0 0.001368 0 0 MITF 4286 broad.mit.edu 37 3 69987131 69987132 + Missense_Mutation DNP GG GG TT TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:69987131_69987132GG>TT uc003dnz.2 + 3 629_630 c.513_514GG>TT c.(511-516)CCGGTG>CCTTTG p.V172L MITF_uc011bgb.1_Missense_Mutation_p.V120L|MITF_uc003doa.2_Missense_Mutation_p.V171L|MITF_uc003dob.2_Missense_Mutation_p.V156L|MITF_uc003dod.2_Missense_Mutation_p.V147L|MITF_uc003doe.2_Missense_Mutation_p.V65L|MITF_uc003dof.2_Missense_Mutation_p.V65L NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 172 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TCATGCCACCGGTGCCGGGGAG 0.505 Melanoma(29;269 969 31479 41502 42961) NA A melanoma Waardenburg syndrome type 2|Tietz syndrome 11 57 0 0 0.004672 0 0 MORC1 27136 broad.mit.edu 37 3 108829596 108829596 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:108829596C>A uc003dxl.2 - 3 241 c.154G>T c.(154-156)GTG>TTG p.V52L MORC1_uc011bhn.1_Missense_Mutation_p.V52L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 52 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 ATCTGCTCACCTGAAAAGACA 0.294 NA 3 18 0.00024832 0.000285987 0.009096 1 0 PARP14 54625 broad.mit.edu 37 3 122437576 122437576 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:122437576C>A uc003efq.3 + 14 4637 c.4578C>A c.(4576-4578)TCC>TCA p.S1526S PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.S1243S|PARP14_uc003efs.1_Silent_p.S1243S NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1526 WWE. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) AACAGGAATCCCGGGCAGATT 0.383 NA 45 116 2.13384e-23 3.289e-23 0.00361 1 0 PLSCR5 389158 broad.mit.edu 37 3 146309535 146309535 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:146309535C>T uc003ewb.2 - 5 1591 c.587G>A c.(586-588)TGT>TAT p.C196Y PLSCR5_uc010hvb.2_Missense_Mutation_p.C184Y|PLSCR5_uc010hvc.2_Missense_Mutation_p.C196Y NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 196 0 AAAACAGCCACATGTCACACA 0.348 NA 4 23 0 0 0.001168 0 0 ABCF3 55324 broad.mit.edu 37 3 183906908 183906908 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr3:183906908C>G uc003fmz.2 + 10 1143 c.1010C>G c.(1009-1011)GCC>GGC p.A337G ABCF3_uc003fna.2_Missense_Mutation_p.A331G|ABCF3_uc003fnb.2_Missense_Mutation_p.A18G NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 337 ABC transporter 1. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGAGGCTGGCCCTGGCCCGG 0.562 NA 8 20 0 0 0.006214 0 0 CTBP1 1487 broad.mit.edu 37 4 1206787 1206787 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:1206787G>A uc003gcv.1 - 8 1218 c.1053C>T c.(1051-1053)GTC>GTT p.V351V uc003gcs.1_Intron|CTBP1_uc003gct.1_Silent_p.V332V|CTBP1_uc003gcu.1_Silent_p.V340V|CTBP1_uc003gcw.2_Silent_p.V25V NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 351 Interaction with GLIS2 2 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GGTCCTTGTTGACACAGTTCT 0.652 NA 8 97 0 0 0.006214 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25351193 25351193 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:25351193G>C uc003grl.3 + 7 875 c.839G>C c.(838-840)GGT>GCT p.G280A ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_Missense_Mutation_p.G46A NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 280 methyltransferase activity|nucleic acid binding|zinc ion binding ovary(2) 2 Breast(46;0.0503) CCTCCGTTTGGTGGCTTGGTT 0.373 NA 3 158 0 0 0.004672 0 0 GUF1 60558 broad.mit.edu 37 4 44687997 44687997 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:44687997A>G uc003gww.3 + 7 898 c.691A>G c.(691-693)AAT>GAT p.N231D GUF1_uc010ifz.1_RNA NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 231 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 ACTTGGAACAAATGTTGAGAG 0.313 NA 6 68 0 0 0.004482 0 0 CWH43 80157 broad.mit.edu 37 4 49052739 49052739 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:49052739G>A uc003gyv.2 + 15 2076 c.1894G>A c.(1894-1896)GAA>AAA p.E632K CWH43_uc011bzl.1_Missense_Mutation_p.E605K NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 632 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 CTCCCATGCTGAACTGAGTGA 0.383 NA 7 78 0 0 0.004482 0 0 EPHA5 2044 broad.mit.edu 37 4 66467836 66467836 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:66467836C>T uc003hcy.2 - 3 626 c.433G>A c.(433-435)GGG>AGG p.G145R EPHA5_uc003hcx.2_Missense_Mutation_p.G76R|EPHA5_uc003hcz.2_Missense_Mutation_p.G145R|EPHA5_uc011cah.1_Missense_Mutation_p.G145R|EPHA5_uc011cai.1_Missense_Mutation_p.G145R|EPHA5_uc003hda.2_Missense_Mutation_p.G145R NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 145 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TTACAGGTCCCCAGTCCTCCA 0.423 NA TSP Lung(17;0.13) 15 52 0 0 0.003163 0 0 MRPS18C 51023 broad.mit.edu 37 4 84377294 84377294 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr4:84377294G>A uc003hor.3 + 1 177 c.64G>A c.(64-66)GCT>ACT p.A22T HELQ_uc003hom.2_5'Flank|HELQ_uc010ikb.2_5'Flank|HELQ_uc003hol.3_5'Flank|HELQ_uc010ikc.2_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank|MRPS18C_uc011ccu.1_Missense_Mutation_p.A22T NM_016067 NP_057151 Q9Y3D5 RT18C_HUMAN mitochondrial ribosomal protein S18C precursor 22 translation mitochondrial small ribosomal subunit structural constituent of ribosome 0 Hepatocellular(203;0.114) CTTGGTAACGGCTGCTGTCAG 0.512 NA 24 128 0 0 0.003954 0 0 PIK3R1 5295 broad.mit.edu 37 5 67590998 67590998 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:67590998T>C uc003jva.2 + 13 2151 c.1591T>C c.(1591-1593)TTG>CTG p.L531L PIK3R1_uc003jvb.2_Silent_p.L531L|PIK3R1_uc003jvc.2_Silent_p.L231L|PIK3R1_uc003jvd.2_Silent_p.L261L|PIK3R1_uc003jve.2_Silent_p.L210L|PIK3R1_uc011crb.1_Silent_p.L201L NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 531 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTATGATAAGTTGAAGTCTCG 0.363 NA Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 6 43 0 0 0.00308 0 0 TMEM173 340061 broad.mit.edu 37 5 138857009 138857009 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:138857009C>A uc003lep.2 - 7 1102 c.851G>T c.(850-852)AGG>ATG p.R284M NM_198282 NP_938023 Q86WV6 TM173_HUMAN transmembrane protein 173 284 Cytoplasmic (Potential). activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTGCTCAAGCCTATCCTCCCG 0.572 NA 26 90 4.4004e-07 5.36954e-07 0.00333 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140712464 140712464 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:140712464C>T uc003lji.1 + 1 2213 c.2213C>T c.(2212-2214)TCG>TTG p.S738L PCDHGA1_uc011dan.1_Missense_Mutation_p.S738L NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 738 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCCGGTTCGCACTTTGTG 0.642 NA 24 80 0 0 0.00278 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784592 140784592 + Silent SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:140784592C>G uc003lkh.1 + 1 2073 c.2073C>G c.(2071-2073)CTC>CTG p.L691L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.L691L NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 691 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTTACCCTCTACCTCGTTG 0.592 NA 32 103 0 0 0.002836 0 0 PDGFRB 5159 broad.mit.edu 37 5 149498364 149498364 + Silent SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr5:149498364G>T uc003lro.2 - 21 3319 c.2850C>A c.(2848-2850)CCC>CCA p.P950P PDGFRB_uc010jhd.2_Silent_p.P789P NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 950 Cytoplasmic (Potential).|Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCTGGGAGAAGGGGGGCCGAA 0.577 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 20 139 5.35356e-11 7.31653e-11 0.00278 1 0 HUS1B 135458 broad.mit.edu 37 6 656374 656374 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:656374G>C uc003mtg.2 - 1 591 c.571C>G c.(571-573)CTG>GTG p.L191V EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 191 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) TCTATACTCAGGGTCATCCTG 0.562 NA 40 164 0 0 0.007835 0 0 SLC17A4 10050 broad.mit.edu 37 6 25771165 25771165 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:25771165G>T uc003nfe.2 + 6 750 c.631G>T c.(631-633)GGG>TGG p.G211W SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.2_Missense_Mutation_p.G148W|SLC17A4_uc010jqa.2_5'Flank NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 211 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 GTCAATGCTGGGGTCCTTCAT 0.458 NA 33 121 4.00102e-26 6.26113e-26 0.00623 1 0 HLA-C 3107 broad.mit.edu 37 6 31238055 31238055 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:31238055C>A uc003nsy.2 - 4 834 c.827G>T c.(826-828)GGA>GTA p.G276V HLA-C_uc011dnj.1_Missense_Mutation_p.G248V|HLA-C_uc003nsx.2_Missense_Mutation_p.G155V|HLA-C_uc003nsz.2_Missense_Mutation_p.G276V|HLA-C_uc010jsl.2_Missense_Mutation_p.G276V|HLA-C_uc003nta.2_Missense_Mutation_p.G276V|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Missense_Mutation_p.G155V NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 276 Extracellular (Potential).|Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 CTGCTCTTGTCCAGAAGGCAC 0.607 NA 5 19 0.00116845 0.00129476 0.001168 1 0 LEMD2 221496 broad.mit.edu 37 6 33756865 33756865 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:33756865C>G uc011drm.1 - 1 42 c.29G>C c.(28-30)CGG>CCG p.R10P LEMD2_uc011drl.1_5'Flank|LEMD2_uc003ofe.2_5'UTR NM_181336 NP_851853 Q8NC56 LEMD2_HUMAN LEM domain containing 2 isoform 1 10 LEM. integral to nuclear inner membrane central_nervous_system(1) 1 CAGCTCCCGCCGCAGTTCCAG 0.632 NA 6 31 0 0 0.00308 0 0 TDRD6 221400 broad.mit.edu 37 6 46656968 46656968 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:46656968G>A uc003oyj.2 + 1 1103 c.1103G>A c.(1102-1104)CGA>CAA p.R368Q TDRD6_uc010jze.2_Missense_Mutation_p.R362Q NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 368 Tudor 2. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GAATATTTTCGAATGCCGGTG 0.547 NA 19 84 0 0 0.008871 0 0 REPS1 85021 broad.mit.edu 37 6 139229864 139229864 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr6:139229864T>C uc003qii.2 - 18 2736 c.2157A>G c.(2155-2157)GAA>GAG p.E719E REPS1_uc003qig.3_Silent_p.E692E|REPS1_uc011edr.1_Silent_p.E718E|REPS1_uc003qij.2_Silent_p.E628E|REPS1_uc003qik.2_Silent_p.E325E NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 719 Interaction with RALBP1 (By similarity). coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TTTGTGTATGTTCATCAACTT 0.398 NA 12 88 0 0 0.001855 0 0 ACTB 60 broad.mit.edu 37 7 5567400 5567400 + Missense_Mutation SNP G G C rs71531321 TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:5567400G>C uc003sos.3 - 5 1143 c.1107C>G c.(1105-1107)ATC>ATG p.I369M ACTB_uc003sor.3_Missense_Mutation_p.I247M|ACTB_uc003sot.3_Missense_Mutation_p.I369M|ACTB_uc003soq.3_Missense_Mutation_p.I247M|ACTB_uc010ksy.2_Missense_Mutation_p.I247M NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 369 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGCGGTGGACGATGGAGGGGC 0.537 NA 26 241 0 0 0.009535 0 0 ETV1 2115 broad.mit.edu 37 7 13971233 13971233 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:13971233G>A uc011jxq.1 - 9 1435 c.696C>T c.(694-696)CAC>CAT p.H232H ETV1_uc011jxn.1_Silent_p.H192H|ETV1_uc011jxo.1_Silent_p.H129H|ETV1_uc011jxp.1_Silent_p.H174H|ETV1_uc003ssw.3_Silent_p.H232H|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.H214H|ETV1_uc011jxs.1_Silent_p.H214H|ETV1_uc010ktv.2_Silent_p.H101H NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 232 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 ACACTGGGTCGTGGTACTCCT 0.522 NA T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 9 37 0 0 0.008291 0 0 WIPF3 644150 broad.mit.edu 37 7 29918676 29918676 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:29918676C>T uc003taj.1 + 3 275 c.275C>T c.(274-276)GCG>GTG p.A92V NM_001080529 NP_001073998 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 92 ovary(1) 1 ACACGAGGCGCGAGCACACCT 0.517 NA 3 10 0 0 0.009096 0 0 ABCA13 154664 broad.mit.edu 37 7 48559687 48559687 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:48559687T>C uc003toq.2 + 53 13873 c.13848T>C c.(13846-13848)CCT>CCC p.P4616P ABCA13_uc010kys.1_Silent_p.P1691P|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.P346P NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4616 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTATTTTTCCTCAATTCTGTC 0.368 NA 2 16 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82430833 82430833 + Splice_Site SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:82430833C>A uc003uhx.2 - 22 15296 c.15007_splice c.e22+1 p.A5003_splice NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTTTACTTACCTTCAGTGTC 0.338 NA 15 37 3.27435e-08 4.19526e-08 0.00245 1 0 SAMD9L 219285 broad.mit.edu 37 7 92765094 92765094 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:92765094G>A uc003umh.1 - 5 1407 c.191C>T c.(190-192)CCA>CTA p.P64L SAMD9L_uc003umj.1_Missense_Mutation_p.P64L|SAMD9L_uc003umi.1_Missense_Mutation_p.P64L|SAMD9L_uc010lfb.1_Missense_Mutation_p.P64L|SAMD9L_uc003umk.1_Missense_Mutation_p.P64L|SAMD9L_uc010lfc.1_Missense_Mutation_p.P64L|SAMD9L_uc010lfd.1_Missense_Mutation_p.P64L|SAMD9L_uc011khx.1_Missense_Mutation_p.P55L NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 64 SAM. ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CAAAAGTGCTGGACCCCATGG 0.413 NA 14 92 0 0 0.003163 0 0 LRRN3 54674 broad.mit.edu 37 7 110762846 110762846 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:110762846C>A uc003vft.3 + 4 1064 c.18C>A c.(16-18)CTC>CTA p.L6L IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.L6L|LRRN3_uc003vfs.3_Silent_p.L6L NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 6 integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACATGCCACTCCGAATTCATG 0.418 NA 17 78 5.3912e-06 6.50116e-06 0.006122 1 0 MLL3 58508 broad.mit.edu 37 7 151962266 151962266 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:151962266G>C uc003wla.2 - 8 1260 c.1041C>G c.(1039-1041)TGC>TGG p.C347W NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 347 PHD-type 1.|RING-type. C -> G (in a colorectal cancer sample; somatic mutation). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.C347G(1) large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CCGGGCTGTCGCACACTGCAC 0.378 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 6 213 0 0 0.001168 0 0 HTR5A 3361 broad.mit.edu 37 7 154875951 154875951 + Silent SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr7:154875951G>A uc003wlu.1 + 2 892 c.828G>A c.(826-828)CGG>CGA p.R276R NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 276 Cytoplasmic (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) ACACGTGGCGGGAGCAGAAGG 0.612 NA 3 47 0 0 0.004672 0 0 USP17L2 377630 broad.mit.edu 37 8 11994973 11994973 + Missense_Mutation SNP T T G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:11994973T>G uc003wvc.1 - 1 1297 c.1297A>C c.(1297-1299)ACC>CCC p.T433P FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 433 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 TGGTCTAAGGTGCTTTCCTGA 0.542 NA 9 32 0 0 0.004482 0 0 CLVS1 157807 broad.mit.edu 37 8 62289263 62289263 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:62289263C>A uc003xuh.2 + 3 879 c.555C>A c.(553-555)GAC>GAA p.D185E CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.D185E NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 185 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 TAATTATAGACTGGAGTAATT 0.423 NA 19 58 0.000958276 0.00107938 0.007413 1 0 ZFHX4 79776 broad.mit.edu 37 8 77616827 77616827 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:77616827C>A uc003yav.2 + 2 891 c.504C>A c.(502-504)GAC>GAA p.D168E ZFHX4_uc003yat.1_Missense_Mutation_p.D168E|ZFHX4_uc003yau.1_Missense_Mutation_p.D168E|ZFHX4_uc003yaw.1_Missense_Mutation_p.D168E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 168 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGTTCCTGGACTCCCTGGCAT 0.473 NA HNSCC(33;0.089) 7 28 0.00198382 0.00218647 0.001984 1 0 SLC7A13 157724 broad.mit.edu 37 8 87242189 87242189 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:87242189C>A uc003ydq.1 - 1 416 c.318G>T c.(316-318)GGG>GGT p.G106G SLC7A13_uc003ydr.1_Silent_p.G106G NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 106 Helical; Name=3; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 CAGCAACTACCCCTGACCCCA 0.493 NA 4 29 0.00116845 0.00129476 0.001168 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886072 88886072 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:88886072C>A uc003ydz.2 - 1 225 c.128G>T c.(127-129)TGC>TTC p.C43F NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 43 ovary(1) 1 AGCTATACGGCAATAGTTGGC 0.507 NA 14 78 6.81908e-15 1.02037e-14 0.00245 1 0 NCALD 83988 broad.mit.edu 37 8 102731524 102731524 + Missense_Mutation SNP C C T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:102731524C>T uc003yke.2 - 2 703 c.334G>A c.(334-336)GGA>AGA p.G112R NCALD_uc003ykf.2_Missense_Mutation_p.G112R|NCALD_uc003ykg.2_Missense_Mutation_p.G112R|NCALD_uc003ykh.2_Missense_Mutation_p.G112R|NCALD_uc003yki.2_Missense_Mutation_p.G112R|NCALD_uc003ykj.2_Missense_Mutation_p.G112R|NCALD_uc003ykk.2_Missense_Mutation_p.G112R|NCALD_uc003ykl.2_Missense_Mutation_p.G112R NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 112 EF-hand 3.|2 (Potential). synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) TAGCCATTTCCGTCCAGGTCG 0.463 NA 15 133 0 0 0.004007 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039691 2039691 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:2039691G>T uc003zhc.2 + 4 680 c.581G>T c.(580-582)CGA>CTA p.R194L SMARCA2_uc003zhd.2_Missense_Mutation_p.R194L|SMARCA2_uc010mha.2_Missense_Mutation_p.R185L NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 194 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATGCTGGCCCGAGGCCAGCCC 0.478 NA 5 29 0.000602214 0.000682066 0.000602 1 0 MPDZ 8777 broad.mit.edu 37 9 13216825 13216825 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:13216825C>A uc010mia.1 - 9 1295 c.1238G>T c.(1237-1239)AGC>ATC p.S413I MPDZ_uc010mhy.2_Missense_Mutation_p.S413I|MPDZ_uc010mhz.2_Missense_Mutation_p.S413I|MPDZ_uc011lmn.1_Missense_Mutation_p.S413I|MPDZ_uc003zlb.3_Missense_Mutation_p.S413I NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 413 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) AACGGCACTGCTTTTTGTAAT 0.318 NA 7 26 3.09899e-07 3.80414e-07 0.004482 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18680333 18680333 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:18680333C>A uc003zne.3 + 11 1287 c.1160C>A c.(1159-1161)GCG>GAG p.A387E ADAMTSL1_uc003znb.2_Missense_Mutation_p.A370E|ADAMTSL1_uc003znc.3_Missense_Mutation_p.A387E NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 387 TSP type-1 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CCATGGACCGCGTGCTCCTCC 0.602 NA 9 25 1.12685e-05 1.33529e-05 0.004482 1 0 SLC28A3 64078 broad.mit.edu 37 9 86905118 86905118 + Missense_Mutation SNP C C G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:86905118C>G uc010mpz.2 - 11 1225 c.1100G>C c.(1099-1101)GGG>GCG p.G367A SLC28A3_uc011lsy.1_Missense_Mutation_p.G298A|SLC28A3_uc004anu.1_Missense_Mutation_p.G367A NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 367 Helical; (Potential). G -> R (reduced transport of inosine and thymidine). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 GGTAGAGAACCCGGCGGTCAT 0.458 Ovarian(106;425 1539 34835 42413 43572) NA 12 63 0 0 0.003163 0 0 C9orf79 286234 broad.mit.edu 37 9 90500907 90500907 + Missense_Mutation SNP A A T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:90500907A>T uc004app.3 + 4 1540 c.1505A>T c.(1504-1506)CAG>CTG p.Q502L C9orf79_uc004apo.1_Missense_Mutation_p.Q314L NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 502 integral to membrane ovary(3) 3 cacatggcccagccccaacat 0.204 NA 20 46 0 0 0.007413 0 0 NOL8 55035 broad.mit.edu 37 9 95077881 95077881 + Silent SNP T T C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:95077881T>C uc004arv.2 - 7 1363 c.1026A>G c.(1024-1026)AAA>AAG p.K342K NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Silent_p.K274K NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 342 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 GAACGCCTGATTTGAAATCAT 0.353 NA 4 18 0 0 0.000602 0 0 FAM120A 23196 broad.mit.edu 37 9 96233568 96233568 + Missense_Mutation SNP G G A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:96233568G>A uc004atw.2 + 2 645 c.620G>A c.(619-621)CGG>CAG p.R207Q FAM120A_uc004atv.2_Missense_Mutation_p.R207Q|FAM120A_uc004atx.2_5'UTR|FAM120A_uc004aty.2_5'UTR NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 207 cytoplasm|plasma membrane RNA binding 0 AAACTGAGCCGGAACGGGAAA 0.458 NA 11 75 0 0 0.010729 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377261 125377261 + Missense_Mutation SNP T T A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:125377261T>A uc011lyy.1 + 1 245 c.245T>A c.(244-246)CTG>CAG p.L82Q NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCCAAGATGCTGCAGATTATT 0.473 NA 41 180 0 0 0.006999 0 0 SLC27A4 10999 broad.mit.edu 37 9 131118034 131118034 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr9:131118034G>T uc004but.2 + 12 2017 c.1733G>T c.(1732-1734)CGC>CTC p.R578L SLC27A4_uc004buu.2_Missense_Mutation_p.R172L NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 578 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 CTGTATGCGCGCCCCATCTTC 0.637 Pancreas(107;1554 2241 10946 12953) NA 26 82 9.65021e-13 1.40304e-12 0.010818 1 0 SHOX 6473 broad.mit.edu 37 X 591804 591804 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:591804G>C uc004cph.1 + 2 863 c.172G>C c.(172-174)GAC>CAC p.D58H SHOX_uc004cpi.2_Missense_Mutation_p.D58H NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 58 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGCCTCCAGGACATCACGGA 0.602 Ovarian(95;18 1419 12424 14056 28266) NA 20 83 0 0 0.012319 0 0 ASMT 438 broad.mit.edu 37 X 1746629 1746629 + Silent SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:1746629C>A uc004cqd.2 + 5 553 c.408C>A c.(406-408)GGC>GGA p.G136G ASMT_uc010ncy.2_Silent_p.G136G|ASMT_uc004cqe.2_Silent_p.G136G NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 136 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 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) AGACGTTTGGCGTTCCCGCTG 0.338 NA 22 169 4.7796e-09 6.24088e-09 0.004656 1 0 FAM47B 170062 broad.mit.edu 37 X 34961245 34961245 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:34961245G>T uc004ddi.1 + 1 315 c.297G>T c.(295-297)AAG>AAT p.K99N NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 99 ovary(3)|breast(1) 4 AGCTGCTCAAGAAAGCGGCCC 0.527 NA 13 29 0.00244969 0.00268549 0.00245 1 0 UBA1 7317 broad.mit.edu 37 X 47060987 47060987 + Missense_Mutation SNP G G T TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:47060987G>T uc004dhj.3 + 8 940 c.789G>T c.(787-789)CAG>CAT p.Q263H UBA1_uc004dhk.3_Missense_Mutation_p.Q263H NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 263 2 approximate repeats. cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 ACGGAAATCAGCCCATGGAGA 0.552 NA 14 9 1.37285e-15 2.06937e-15 0.004007 1 0 HEPH 9843 broad.mit.edu 37 X 65480099 65480099 + Missense_Mutation SNP G G C TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:65480099G>C uc011moz.1 + 19 3263 c.3203G>C c.(3202-3204)CGA>CCA p.R1068P HEPH_uc004dwn.2_Missense_Mutation_p.R1068P|HEPH_uc004dwo.2_Missense_Mutation_p.R798P|HEPH_uc010nkr.2_Missense_Mutation_p.R876P|HEPH_uc011mpa.1_Missense_Mutation_p.R1068P NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1065 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GTTTTTTCTCGAACAGGTAAG 0.473 NA 16 11 0 0 0.004007 0 0 AWAT1 158833 broad.mit.edu 37 X 69455988 69455988 + Missense_Mutation SNP C C A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:69455988C>A uc004dxy.2 + 3 295 c.254C>A c.(253-255)ACG>AAG p.T85K NM_001013579 NP_001013597 Q58HT5 AWAT1_HUMAN wax synthase 1 85 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity p.T165M(1) ovary(3) 3 TTCCCCATTACGGTAAGTATC 0.483 NA 17 26 1.96292e-10 2.63006e-10 0.010504 1 0 DPF2 5977 broad.mit.edu 37 11 65119159 65119173 + In_Frame_Del DEL TGGAGCTGCCACCTG TGGAGCTGCCACCTG - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 TGGAGCTGCCACCTG TGGAGCTGCCACCTG - - TGGAGCTGCCACCTG TGGAGCTGCCACCTG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr11:65119159_65119173delTGGAGCTGCCACCTG uc001odm.2 + 11 1117_1131 c.1105_1119delTGGAGCTGCCACCTG c.(1105-1119)TGGAGCTGCCACCTGdel p.WSCHL369del DPF2_uc001odn.2_In_Frame_Del_p.WSCHL383del|DPF2_uc010roe.1_In_Frame_Del_p.WSCHL185del NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 369_373 PHD-type 2. apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TGCAGGAAGTTGGAGCTGCCACCTGTGTCTGGACC 0.521 NA 8 123 --- --- --- --- NA NA NA NA NA ADAM6 8755 broad.mit.edu 37 14 106774086 106774087 + Splice_Site INS - - AGTAATACACGGCA TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr14:106774086_106774087insAGTAATACACGGCA uc010tyt.1 - 430 c.15674_splice c.e430+1 Parts of antibodies, mostly variable regions. 0 GCCTCTTGCACGTGTCCTCAGC 0.55 NA 3 6 --- --- --- --- NA NA NA NA NA RASAL3 64926 broad.mit.edu 37 19 15572382 15572382 + Frame_Shift_Del DEL G G - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:15572382delG uc002nbe.2 - 3 451 c.365delC c.(364-366)CCAfs p.P122fs NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 122 Pro-rich. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 AGGGATCTGTGGGGTAGGGGG 0.567 NA 2 4 --- --- --- --- NA NA NA NA NA TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr19:54675747_54675749delTCC uc010erf.2 - 2 333_335 c.201_203delGGA c.(199-204)GAGGAT>GAT p.E67del TMC4_uc002qdo.2_In_Frame_Del_p.E61del NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 67 Poly-Glu.|Extracellular (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 NA 7 104 --- --- --- --- NA NA NA NA NA TATDN1 83940 broad.mit.edu 37 8 125500846 125500847 + Frame_Shift_Ins INS - - A TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chr8:125500846_125500847insA uc003yrd.2 - 12 924_925 c.882_883insT c.(880-885)TTTCCTfs p.F294fs RNF139_uc003yrc.2_3'UTR|TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Frame_Shift_Ins_p.F247fs|TATDN1_uc003yrf.2_Frame_Shift_Ins_p.F330fs NM_032026 NP_114415 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 isoform a 294_295 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TATATTCCAGGAAAAAATACTT 0.292 NA 7 73 --- --- --- --- NA NA NA NA NA RBM10 8241 broad.mit.edu 37 X 47041360 47041364 + Frame_Shift_Del DEL CGTCT CGTCT - TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 CGTCT CGTCT - - CGTCT CGTCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e4d9dd0-a990-4ec5-841b-7d443b86b059 29aa803b-8c42-444f-8c78-6349908d88e9 g.chrX:47041360_47041364delCGTCT uc004dhf.2 + 16 2083_2087 c.1704_1708delCGTCT c.(1702-1710)GACGTCTCTfs p.D568fs RBM10_uc004dhg.2_Frame_Shift_Del_p.D490fs|RBM10_uc004dhh.2_Frame_Shift_Del_p.D567fs|RBM10_uc010nhq.2_Frame_Shift_Del_p.D491fs|RBM10_uc004dhi.2_Frame_Shift_Del_p.D633fs NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 568_570 Tyr-rich. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CTGTTCCCGACGTCTCTACCTACCA 0.58 Melanoma(171;120 2705 19495 39241) NA 15 21 --- --- --- --- NA NA NA NA NA