Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values PRDM16 63976 broad.mit.edu 37 1 3319370 3319370 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:3319370G>A uc001akf.2 + 6 772 c.692G>A c.(691-693)CGC>CAC p.R231H PRDM16_uc001akc.2_Missense_Mutation_p.R231H|PRDM16_uc001akd.2_Missense_Mutation_p.R231H|PRDM16_uc001ake.2_Missense_Mutation_p.R231H|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 231 C2H2-type 1; atypical. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCCACGTTCCGCTGTGACGAG 0.627 T EVI1 MDS|AML HIST2H2BF 440689 broad.mit.edu 37 1 149783796 149783796 + Missense_Mutation SNP T T C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:149783796T>C uc001esr.2 - 1 133 c.83A>G c.(82-84)AAG>AGG p.K28R HIST2H2BF_uc010pbj.1_Missense_Mutation_p.K28R|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.K28R NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 28 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) CTTGCGCTTCTTGCCGTCCTT 0.567 TDRKH 11022 broad.mit.edu 37 1 151748570 151748570 + Splice_Site SNP A A T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:151748570A>T uc009wnb.1 - 8 1399 c.1217_splice c.e8+1 p.R406_splice TDRKH_uc001eyy.2_Splice_Site_p.R182_splice|TDRKH_uc001ezb.3_Splice_Site_p.R402_splice|TDRKH_uc001ezc.3_Splice_Site_p.R361_splice|TDRKH_uc001eza.3_Splice_Site_p.R406_splice|TDRKH_uc001ezd.3_Splice_Site_p.R406_splice|TDRKH_uc010pdn.1_Splice_Site_p.R182_splice NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing isoform a RNA binding ovary(1)|pancreas(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTCAGCACTGACCTGAGAGCC 0.532 FLG 2312 broad.mit.edu 37 1 152276817 152276817 + Silent SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:152276817G>A uc001ezu.1 - 3 10581 c.10545C>T c.(10543-10545)AGC>AGT p.S3515S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3515 Ser-rich.|Filaggrin 21. 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) AGTGTCTAGAGCTGTCCGCCT 0.567 Ichthyosis HMCN1 83872 broad.mit.edu 37 1 186081953 186081953 + Nonsense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:186081953C>T uc001grq.1 + 72 11228 c.10999C>T c.(10999-11001)CGA>TGA p.R3667* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3667 Ig-like C2-type 35. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGCAACACCTCGAGTGCGAAT 0.393 KCNT2 343450 broad.mit.edu 37 1 196303015 196303015 + Silent SNP A A G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:196303015A>G uc001gtd.1 - 17 2019 c.1959T>C c.(1957-1959)GAT>GAC p.D653D KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.D603D|KCNT2_uc001gtf.1_Silent_p.D653D|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.D653D|KCNT2_uc001gth.1_Silent_p.D174D NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 653 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GTGTAGTTTCATCTTCTGATT 0.358 CFHR5 81494 broad.mit.edu 37 1 196953209 196953209 + Missense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:196953209G>T uc001gts.3 + 3 500 c.372G>T c.(370-372)GAG>GAT p.E124D NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 124 Sushi 2. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 AAAACAATGAGAAAAACATTT 0.378 IL19 29949 broad.mit.edu 37 1 207010359 207010359 + Missense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:207010359G>T uc001hep.2 + 4 1140 c.201G>T c.(199-201)CAG>CAT p.Q67H IL19_uc001heo.2_Missense_Mutation_p.Q105H|IL19_uc010prx.1_Missense_Mutation_p.Q67H NM_013371 NP_037503 Q9UHD0 IL19_HUMAN interleukin 19 isoform 2 precursor 67 apoptosis|immune response|signal transduction extracellular space cytokine activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(75;0.211) AGACTCTGCAGATCATTAAGG 0.438 LAMB3 3914 broad.mit.edu 37 1 209798993 209798993 + Missense_Mutation SNP C C A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr1:209798993C>A uc001hhg.2 - 13 2366 c.1976G>T c.(1975-1977)AGG>ATG p.R659M LAMB3_uc009xco.2_Missense_Mutation_p.R659M|LAMB3_uc001hhh.2_Missense_Mutation_p.R659M|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 659 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGGGAATTACCTGAGGGAGAG 0.483 RBP3 5949 broad.mit.edu 37 10 48387918 48387918 + Missense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr10:48387918G>T uc001jez.2 - 1 3074 c.2960C>A c.(2959-2961)GCT>GAT p.A987D NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 987 4 X approximate tandem repeats.|4. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CTGCAGGTCAGCCCCCAGGAT 0.612 C10orf71 118461 broad.mit.edu 37 10 50530848 50530848 + Silent SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr10:50530848G>A uc010qgp.1 + 3 597 c.258G>A c.(256-258)CCG>CCA p.P86P NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 86 0 GCCAGTTACCGTCACAGGGCA 0.572 COL13A1 1305 broad.mit.edu 37 10 71657242 71657242 + Missense_Mutation SNP C C A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr10:71657242C>A uc001jpr.1 + 12 1205 c.669C>A c.(667-669)AGC>AGA p.S223R COL13A1_uc001jqj.1_Missense_Mutation_p.S223R|COL13A1_uc001jps.1_Missense_Mutation_p.S194R|COL13A1_uc001jpt.1_Intron|COL13A1_uc001jpu.1_Intron|COL13A1_uc001jpv.1_Missense_Mutation_p.S223R|COL13A1_uc001jpx.1_Missense_Mutation_p.S223R|COL13A1_uc001jpw.1_Intron|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Missense_Mutation_p.S185R|COL13A1_uc001jqc.1_Missense_Mutation_p.S223R|COL13A1_uc001jqb.1_Missense_Mutation_p.S194R|COL13A1_uc001jql.2_Missense_Mutation_p.S223R|COL13A1_uc001jqd.1_Missense_Mutation_p.S211R|COL13A1_uc001jqe.1_Missense_Mutation_p.S206R|COL13A1_uc001jqf.1_Intron|COL13A1_uc001jqg.1_Missense_Mutation_p.S223R|COL13A1_uc001jqh.1_Missense_Mutation_p.S223R|COL13A1_uc001jqi.1_Missense_Mutation_p.S223R|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Missense_Mutation_p.S83R NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 223 Extracellular (Potential).|Nonhelical region 2 (NC2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) AGTGCCTAAGCAGCATGCCAG 0.612 MKI67 4288 broad.mit.edu 37 10 129899811 129899811 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr10:129899811C>T uc001lke.2 - 14 9611 c.9416G>A c.(9415-9417)GGA>GAA p.G3139E MKI67_uc001lkf.2_Missense_Mutation_p.G2779E NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 3139 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTCCGGGCTCCATCATCTGG 0.458 TRPM5 29850 broad.mit.edu 37 11 2435394 2435394 + Missense_Mutation SNP A A G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:2435394A>G uc001lwm.3 - 12 1796 c.1787T>C c.(1786-1788)TTC>TCC p.F596S TRPM5_uc010qxl.1_Missense_Mutation_p.F596S|TRPM5_uc009ydn.2_Missense_Mutation_p.F598S NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 596 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CAGCAGGGCGAAGGCGCGGGC 0.706 TRIM68 55128 broad.mit.edu 37 11 4622295 4622295 + Missense_Mutation SNP C C G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:4622295C>G uc001lzf.1 - 6 1107 c.869G>C c.(868-870)CGT>CCT p.R290P TRIM68_uc001lzg.1_Missense_Mutation_p.R67P|TRIM68_uc010qyj.1_RNA NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 290 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCCCAGCACACGGCAATCTGT 0.552 OR51D1 390038 broad.mit.edu 37 11 4661620 4661620 + Silent SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:4661620G>T uc010qyk.1 + 1 600 c.600G>T c.(598-600)CTG>CTT p.L200L NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 200 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TTATGAAGCTGTCCTGTACTG 0.458 OR51E1 143503 broad.mit.edu 37 11 4673886 4673886 + Missense_Mutation SNP G G C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:4673886G>C uc001lzi.3 + 2 274 c.130G>C c.(130-132)GGT>CGT p.G44R NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTGTGCTAGGTAACTTGAC 0.468 OR52R1 119695 broad.mit.edu 37 11 4824825 4824825 + Missense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:4824825G>T uc010qym.1 - 1 1023 c.1023C>A c.(1021-1023)TTC>TTA p.F341L NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTAGGTGAGGAAAGAAAAAA 0.478 DCHS1 8642 broad.mit.edu 37 11 6650775 6650775 + Missense_Mutation SNP G G C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:6650775G>C uc001mem.1 - 12 5479 c.5069C>G c.(5068-5070)TCT>TGT p.S1690C NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1690 Cadherin 16.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTTTCGCTAGAGACGCCTCC 0.552 OR8J3 81168 broad.mit.edu 37 11 55904869 55904869 + Missense_Mutation SNP A A G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:55904869A>G uc010riz.1 - 1 326 c.326T>C c.(325-327)GTA>GCA p.V109A NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TACCTCCGATACAATAAAGAA 0.473 FGF3 2248 broad.mit.edu 37 11 69631105 69631105 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:69631105C>T uc001oph.2 - 2 798 c.307G>A c.(307-309)GGA>AGA p.G103R NM_005247 NP_005238 P11487 FGF3_HUMAN fibroblast growth factor 3 precursor 103 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) TAGAGTCGTCCCCTCTTGTTC 0.597 FUT4 2526 broad.mit.edu 37 11 94278513 94278513 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:94278513C>T uc001pez.2 + 1 1497 c.1214C>T c.(1213-1215)GCC>GTC p.A405V PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank NM_002033 NP_002024 P22083 FUT4_HUMAN fucosyltransferase 4 405 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity skin(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CACACAGTGGCCCGCTACAAG 0.637 PIWIL4 143689 broad.mit.edu 37 11 94340624 94340624 + Missense_Mutation SNP C C A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:94340624C>A uc001pfa.2 + 14 1869 c.1658C>A c.(1657-1659)TCT>TAT p.S553Y PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 553 Piwi. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ATTCTGCCTTCTAATCAGAAG 0.363 DYNC2H1 79659 broad.mit.edu 37 11 103006490 103006490 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:103006490G>A uc001pho.2 + 17 2531 c.2387G>A c.(2386-2388)CGG>CAG p.R796Q DYNC2H1_uc001phn.1_Missense_Mutation_p.R796Q|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 796 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GAAGAAATCCGGGCTAAATAT 0.318 CDON 50937 broad.mit.edu 37 11 125891265 125891265 + Missense_Mutation SNP T T G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr11:125891265T>G uc009zbw.2 - 3 355 c.227A>C c.(226-228)AAG>ACG p.K76T CDON_uc001qdc.3_Missense_Mutation_p.K76T|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.K76T NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 76 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) CTGATGAATCTTAACATGTTC 0.468 FAR2 55711 broad.mit.edu 37 12 29474774 29474774 + Missense_Mutation SNP G G C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr12:29474774G>C uc001ris.3 + 10 1321 c.1174G>C c.(1174-1176)GAG>CAG p.E392Q FAR2_uc001rit.2_Missense_Mutation_p.E392Q|FAR2_uc009zjm.2_Missense_Mutation_p.E295Q NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 392 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 TTCCATGTTGGAGTATTTCAT 0.448 CNTN1 1272 broad.mit.edu 37 12 41337868 41337868 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr12:41337868G>A uc001rmm.1 + 14 1692 c.1579G>A c.(1579-1581)GCT>ACT p.A527T CNTN1_uc009zjy.1_Missense_Mutation_p.A527T|CNTN1_uc001rmn.1_Missense_Mutation_p.A516T|CNTN1_uc001rmo.2_Missense_Mutation_p.A527T NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 527 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CATGCAGTGTGCTGCGTCCTT 0.388 ANKRD52 283373 broad.mit.edu 37 12 56647085 56647085 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr12:56647085C>T uc001skm.3 - 10 1177 c.1087G>A c.(1087-1089)GCA>ACA p.A363T NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 363 ANK 11. protein binding ovary(2) 2 GCGGTATCTGCGCCATTGGTC 0.572 GLIPR1L1 256710 broad.mit.edu 37 12 75728626 75728626 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr12:75728626G>A uc001sxo.2 + 1 164 c.118G>A c.(118-120)GCC>ACC p.A40T CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.A40T NM_152779 NP_689992 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 40 extracellular region 0 CTGCATAGAAGCCCACAACGA 0.483 OREG0021998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RAB35 11021 broad.mit.edu 37 12 120535069 120535069 + Nonsense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr12:120535069G>A uc001txm.1 - 6 731 c.586C>T c.(586-588)CGA>TGA p.R196* RAB35_uc010szg.1_Translation_Start_Site|RAB35_uc009zww.1_Translation_Start_Site|RAB35_uc010szh.1_3'UTR NM_006861 NP_006852 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 196 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) CGTTTCTTTCGTTTACTGTTC 0.577 FLT3 2322 broad.mit.edu 37 13 28608254 28608254 + Missense_Mutation SNP A A G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr13:28608254A>G uc001urw.2 - 14 1884 c.1802T>C c.(1801-1803)CTC>CCC p.L601P FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L601P NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 601 Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.D600_L601insFREYEYD(7)|p.D600_L601ins17(4)|p.L601_K602insREYEYDL(4)|p.L601_K602ins27(4)|p.D600_L601ins26(4)|p.L601_K602ins21(3)|p.L601_K602ins24(2)|p.D600_L601>HVDFREYEYD(2)|p.D600_L601ins20(2)|p.L601_K602ins15(1)|p.L601_K602ins33(1)|p.D600_L601insRGYEYD(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.D600_L601insVDFREYEY(1)|p.L601_K602insIREYEYDL(1)|p.600_601>PRGFYVDFREYEYD(1)|p.L601_K602ins29(1)|p.L601_K602ins28(1)|p.L601_K602ins20(1)|p.L601_K602insEYEYDL(1)|p.D600_L601ins28(1)|p.D600_L601ins22(1)|p.D600_L601ins21(1) haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTCCCATTTGAGATCATATTC 0.368 Mis|O AML|ALL IPO5 3843 broad.mit.edu 37 13 98634835 98634835 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr13:98634835G>A uc001vnf.1 + 2 234 c.169G>A c.(169-171)GAG>AAG p.E57K IPO5_uc001vne.2_Missense_Mutation_p.E75K|IPO5_uc010tik.1_Missense_Mutation_p.E57K|IPO5_uc010til.1_5'UTR NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 57 Importin N-terminal. interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 AGCTGCTGAAGAGGTACTACC 0.333 FAM70B 348013 broad.mit.edu 37 13 114514841 114514841 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr13:114514841C>T uc001vuh.2 + 9 973 c.946C>T c.(946-948)CCC>TCC p.P316S NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 316 Pro-rich. integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) CACCTACTTTCCCCCGGGGGA 0.557 EFS 10278 broad.mit.edu 37 14 23828604 23828604 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr14:23828604C>T uc001wjo.2 - 4 1691 c.1083G>A c.(1081-1083)ATG>ATA p.M361I EFS_uc001wjp.2_Missense_Mutation_p.M268I|EFS_uc010tnm.1_Missense_Mutation_p.M192I NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 361 M -> I (in a colorectal cancer sample; somatic mutation). cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding p.M361I(1) large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GGTCATCCTCCATCTCCCTGC 0.652 PRPF39 55015 broad.mit.edu 37 14 45578844 45578844 + Missense_Mutation SNP A A T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr14:45578844A>T uc001wvz.3 + 8 1207 c.1037A>T c.(1036-1038)AAA>ATA p.K346I PRPF39_uc001wvy.3_Missense_Mutation_p.K225I|PRPF39_uc010and.2_Missense_Mutation_p.K136I|PRPF39_uc001wwa.1_5'Flank|SNORD127_uc010ane.2_5'Flank NM_017922 NP_060392 Q86UA1 PRP39_HUMAN PRP39 pre-mRNA processing factor 39 homolog 346 HAT 5. mRNA processing|RNA splicing nucleus binding ovary(1)|breast(1) 2 TTTCATGTGAAACCTTTGGAA 0.318 TRPM1 4308 broad.mit.edu 37 15 31334409 31334409 + Missense_Mutation SNP T T C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr15:31334409T>C uc001zfm.2 - 16 1894 c.1766A>G c.(1765-1767)AAG>AGG p.K589R TRPM1_uc010azy.2_Missense_Mutation_p.K496R|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 589 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ctttttcttctttttcttttt 0.413 SEMA6D 80031 broad.mit.edu 37 15 48056166 48056166 + Silent SNP T T C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr15:48056166T>C uc010bek.2 + 10 1227 c.867T>C c.(865-867)GAT>GAC p.D289D SEMA6D_uc001zvw.2_Silent_p.D289D|SEMA6D_uc001zvx.1_Silent_p.D289D|SEMA6D_uc001zvy.2_Silent_p.D289D|SEMA6D_uc001zvz.2_Silent_p.D289D|SEMA6D_uc001zwa.2_Silent_p.D289D|SEMA6D_uc001zwb.2_Silent_p.D289D|SEMA6D_uc001zwc.2_Silent_p.D289D NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 289 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TCCCTGGAGATTCGTTTTTCT 0.473 SHC4 399694 broad.mit.edu 37 15 49255112 49255112 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr15:49255112C>T uc001zxb.1 - 1 530 c.101G>A c.(100-102)CGG>CAG p.R34Q NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 34 CH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) CGACTCGTTCCGAAAGCGGCT 0.657 C15orf27 123591 broad.mit.edu 37 15 76430152 76430152 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr15:76430152G>A uc002bbq.2 + 3 298 c.143G>A c.(142-144)CGG>CAG p.R48Q C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 48 integral to membrane 0 TTTGCCTATCGGGACTTGCCC 0.527 NKD1 85407 broad.mit.edu 37 16 50667166 50667166 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr16:50667166G>A uc002egg.1 + 10 1111 c.887G>A c.(886-888)CGC>CAC p.R296H NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 296 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) ACTCGATCTCGCTCCCATGAG 0.542 SLC38A8 146167 broad.mit.edu 37 16 84075604 84075604 + Silent SNP G G A rs147597105 byFrequency TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr16:84075604G>A uc002fhg.1 - 1 159 c.159C>T c.(157-159)GGC>GGT p.G53G NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 53 amino acid transport|sodium ion transport integral to membrane 0 GGACCACTCCGCCCGCTTTGG 0.632 SLC43A2 124935 broad.mit.edu 37 17 1494653 1494653 + Missense_Mutation SNP T T C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr17:1494653T>C uc002fsv.2 - 8 930 c.841A>G c.(841-843)AGT>GGT p.S281G SLC43A2_uc002fsu.2_Missense_Mutation_p.S281G|SLC43A2_uc002fsw.2_Missense_Mutation_p.S281G|SLC43A2_uc002fsx.2_Missense_Mutation_p.S281G|SLC43A2_uc010vqo.1_Missense_Mutation_p.S144G NM_152346 NP_689559 Q8N370 LAT4_HUMAN solute carrier family 43, member 2 281 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TCCTTGGCACTCCTCATGGAG 0.642 ALOX15 246 broad.mit.edu 37 17 4535309 4535309 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr17:4535309G>A uc002fyh.2 - 13 1698 c.1684C>T c.(1684-1686)CGG>TGG p.R562W ALOX15_uc010vsd.1_Missense_Mutation_p.R523W|ALOX15_uc010vse.1_Missense_Mutation_p.R584W NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 562 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GGGGGCAGCCGCATCGTGCAG 0.607 WSB1 26118 broad.mit.edu 37 17 25628925 25628925 + Missense_Mutation SNP G G C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr17:25628925G>C uc002gzd.1 + 2 468 c.152G>C c.(151-153)TGG>TCG p.W51S WSB1_uc010vzy.1_Missense_Mutation_p.W51S|WSB1_uc010vzz.1_Missense_Mutation_p.W20S|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA NM_015626 NP_056441 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box-containing 1 isoform 1 51 WD 1. intracellular signal transduction intracellular protein binding 0 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TACTTTGCTTGGTCACAAGGA 0.418 ZACN 353174 broad.mit.edu 37 17 74075792 74075792 + Nonsense_Mutation SNP C C T rs140302218 byFrequency TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr17:74075792C>T uc002jqn.2 + 3 315 c.232C>T c.(232-234)CGA>TGA p.R78* ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron NM_180990 NP_851321 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 78 Extracellular (Potential). response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity 0 GGACATCCTGCGATACACAAT 0.582 CCDC102B 79839 broad.mit.edu 37 18 66504246 66504246 + Silent SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr18:66504246G>A uc002lkk.2 + 4 469 c.246G>A c.(244-246)AAG>AAA p.K82K CCDC102B_uc002lki.2_Silent_p.K82K|CCDC102B_uc002lkj.1_Silent_p.K82K NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 82 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AAGAAGTCAAGGCCAGAGCTG 0.473 NETO1 81832 broad.mit.edu 37 18 70417353 70417353 + Silent SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr18:70417353G>A uc002lkw.2 - 9 1769 c.1485C>T c.(1483-1485)ATC>ATT p.I495I NETO1_uc002lkx.1_Silent_p.I494I|NETO1_uc002lky.1_Silent_p.I495I NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 495 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GCACCTCTTCGATTTCATCTA 0.468 GNG7 2788 broad.mit.edu 37 19 2515092 2515092 + Missense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr19:2515092G>T uc002lwd.2 - 5 372 c.135C>A c.(133-135)AAC>AAA p.N45K GNG7_uc010dte.1_Intron NM_052847 NP_443079 O60262 GBG7_HUMAN guanine nucleotide binding protein (G protein), 45 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 Hepatocellular(1079;0.137) 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) GCAGGGGGTCGTTCCGGGCAT 0.408 PGLYRP2 114770 broad.mit.edu 37 19 15582872 15582872 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr19:15582872G>A uc002nbf.3 - 3 1305 c.1172C>T c.(1171-1173)GCG>GTG p.A391V PGLYRP2_uc002nbg.3_Missense_Mutation_p.A391V NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 391 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 CCGATAAGGCGCCGCTCCCCA 0.662 C19orf47 126526 broad.mit.edu 37 19 40829971 40829971 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr19:40829971G>A uc002oni.3 - 8 717 c.716C>T c.(715-717)ACG>ATG p.T239M C19orf47_uc002ong.2_Missense_Mutation_p.T98M|C19orf47_uc002onh.2_Missense_Mutation_p.T172M NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 239 ovary(1)|skin(1) 2 Lung(22;0.000636) AAACACAGACGTCCTATGGAG 0.627 CYP2A13 1553 broad.mit.edu 37 19 41596049 41596049 + Missense_Mutation SNP A A T rs149580014 TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr19:41596049A>T uc002opt.2 + 3 450 c.441A>T c.(439-441)GAA>GAT p.E147D NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 147 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) GCATCGAGGAACGCATCCAGG 0.697 DHX34 9704 broad.mit.edu 37 19 47858523 47858523 + Silent SNP G G A rs150145021 byFrequency TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr19:47858523G>A uc010xyn.1 + 3 1274 c.933G>A c.(931-933)TCG>TCA p.S311S DHX34_uc010elc.1_Silent_p.S311S NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 311 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TCCTCATGTCGGCCACCATCA 0.587 ZNF584 201514 broad.mit.edu 37 19 58928789 58928789 + Nonsense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr19:58928789G>T uc002qsp.2 + 4 1356 c.904G>T c.(904-906)GAA>TAA p.E302* ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Nonsense_Mutation_p.E257*|ZNF584_uc010yib.1_3'UTR NM_173548 NP_775819 Q8IVC4 ZN584_HUMAN zinc finger protein 584 302 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) TGAGTGTACAGAATGTGGGAA 0.443 ZNF584 201514 broad.mit.edu 37 19 58929002 58929002 + Missense_Mutation SNP C C A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr19:58929002C>A uc002qsp.2 + 4 1569 c.1117C>A c.(1117-1119)CAG>AAG p.Q373K ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.Q328K|ZNF584_uc010yib.1_3'UTR NM_173548 NP_775819 Q8IVC4 ZN584_HUMAN zinc finger protein 584 373 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) CAATCGGCACCAGCAGTTCCA 0.507 DYSF 8291 broad.mit.edu 37 2 71743364 71743364 + Missense_Mutation SNP T T A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:71743364T>A uc002sie.2 + 8 1223 c.847T>A c.(847-849)TTT>ATT p.F283I DYSF_uc010feg.2_Missense_Mutation_p.F314I|DYSF_uc010feh.2_Missense_Mutation_p.F283I|DYSF_uc002sig.3_Missense_Mutation_p.F283I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.F283I|DYSF_uc010fef.2_Missense_Mutation_p.F314I|DYSF_uc010fei.2_Missense_Mutation_p.F314I|DYSF_uc010fek.2_Missense_Mutation_p.F315I|DYSF_uc010fej.2_Missense_Mutation_p.F284I|DYSF_uc010fel.2_Missense_Mutation_p.F284I|DYSF_uc010feo.2_Missense_Mutation_p.F315I|DYSF_uc010fem.2_Missense_Mutation_p.F284I|DYSF_uc010fen.2_Missense_Mutation_p.F315I|DYSF_uc002sif.2_Missense_Mutation_p.F284I NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 283 Cytoplasmic (Potential).|C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TGAGCCCATCTTTATCACGGT 0.423 LRP1B 53353 broad.mit.edu 37 2 141232848 141232848 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:141232848C>T uc002tvj.1 - 60 10456 c.9484G>A c.(9484-9486)GGA>AGA p.G3162R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3162 Extracellular (Potential).|LDL-receptor class B 30. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGATTGGTTCCATCCATTCCA 0.373 TSP Lung(27;0.18) STAM2 10254 broad.mit.edu 37 2 152992030 152992030 + Silent SNP A A C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:152992030A>C uc002tyc.3 - 8 1142 c.792T>G c.(790-792)ACT>ACG p.T264T STAM2_uc010foa.1_Silent_p.T264T|STAM2_uc002tyd.2_Silent_p.T264T NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 264 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) TACCTGCCTCAGTCTCTATGT 0.308 DPP4 1803 broad.mit.edu 37 2 162891790 162891790 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:162891790C>T uc002ubz.2 - 9 1219 c.658G>A c.(658-660)GGC>AGC p.G220S DPP4_uc010fpb.2_5'UTR NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 220 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) AAAAAAGTGCCGTTTGGAGAC 0.423 TTN 7273 broad.mit.edu 37 2 179643826 179643826 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:179643826C>T uc010zfg.1 - 24 4207 c.3983G>A c.(3982-3984)GGC>GAC p.G1328D TTN_uc010zfh.1_Missense_Mutation_p.G1282D|TTN_uc010zfi.1_Missense_Mutation_p.G1282D|TTN_uc010zfj.1_Missense_Mutation_p.G1282D|TTN_uc002unb.2_Missense_Mutation_p.G1328D|uc002unc.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1328 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATGCGCTTGCCATCTTTGTA 0.363 AOX1 316 broad.mit.edu 37 2 201531408 201531408 + Splice_Site SNP A A G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:201531408A>G uc002uvx.2 + 32 3645 c.3544_splice c.e32-2 p.N1182_splice AOX1_uc010zhf.1_Splice_Site_p.N738_splice|AOX1_uc010fsu.2_Splice_Site_p.N548_splice NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTTTAATACTAGAACATCAGA 0.373 AOX1 316 broad.mit.edu 37 2 201531430 201531430 + Silent SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:201531430C>T uc002uvx.2 + 32 3665 c.3564C>T c.(3562-3564)GTC>GTT p.V1188V AOX1_uc010zhf.1_Silent_p.V744V|AOX1_uc010fsu.2_Silent_p.V554V NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1188 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CAGACATTGTCATGGATGTTG 0.383 IHH 3549 broad.mit.edu 37 2 219925067 219925067 + Silent SNP T T C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:219925067T>C uc002vjo.1 - 1 123 c.123A>G c.(121-123)CCA>CCG p.P41P hsa-mir-3131|MI0014151_5'Flank NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 41 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGAGTTTGCGTGGCGGTCGCC 0.692 SLC23A2 9962 broad.mit.edu 37 20 4843508 4843508 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr20:4843508C>T uc002wlg.1 - 14 1777 c.1402G>A c.(1402-1404)GCT>ACT p.A468T SLC23A2_uc010zqr.1_Missense_Mutation_p.A353T|SLC23A2_uc002wlh.1_Missense_Mutation_p.A468T NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 468 Helical; (Potential). L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 ATGCCCAGAGCGAGCATGAGG 0.597 KIF3B 9371 broad.mit.edu 37 20 30897661 30897661 + Silent SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr20:30897661G>A uc002wxq.2 + 2 248 c.81G>A c.(79-81)TCG>TCA p.S27S KIF3B_uc010ztv.1_Silent_p.S27S|KIF3B_uc010ztw.1_Silent_p.S27S NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 27 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGGCTGCTTCGTATGACAAAG 0.507 CASS4 57091 broad.mit.edu 37 20 55033575 55033575 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr20:55033575G>A uc002xxp.2 + 7 2358 c.2133G>A c.(2131-2133)ATG>ATA p.M711I CASS4_uc002xxr.2_Missense_Mutation_p.M711I|CASS4_uc010zze.1_Missense_Mutation_p.M657I|CASS4_uc010gio.2_Missense_Mutation_p.M274I NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 711 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 TGGTCATCATGGTGGGACAGA 0.602 LAMA5 3911 broad.mit.edu 37 20 60909261 60909261 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr20:60909261G>A uc002ycq.2 - 22 2787 c.2720C>T c.(2719-2721)GCG>GTG p.A907V NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 907 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCCATCTGCGCGTAGCCCCT 0.682 HESX1 8820 broad.mit.edu 37 3 57232304 57232304 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr3:57232304C>T uc003din.3 - 4 813 c.479G>A c.(478-480)CGT>CAT p.R160H NM_003865 NP_003856 Q9UBX0 HESX1_HUMAN HESX homeobox 1 160 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) CAGTTTTGCACGCCGATTTTG 0.294 GOLIM4 27333 broad.mit.edu 37 3 167750460 167750460 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr3:167750460C>T uc003ffe.2 - 9 1368 c.1024G>A c.(1024-1026)GCC>ACC p.A342T GOLIM4_uc011bpe.1_Missense_Mutation_p.A342T|GOLIM4_uc011bpf.1_Missense_Mutation_p.A314T|GOLIM4_uc011bpg.1_Missense_Mutation_p.A314T NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 342 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TCCTCCAGGGCCTTTCTGTGC 0.547 EXOC1 55763 broad.mit.edu 37 4 56768601 56768601 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr4:56768601G>A uc003hbe.1 + 18 2587 c.2429G>A c.(2428-2430)CGT>CAT p.R810H EXOC1_uc003hbf.1_Missense_Mutation_p.R810H|EXOC1_uc003hbg.1_Missense_Mutation_p.R795H NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 810 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) CAAGAACTTCGTAAAGTCATT 0.383 GRID2 2895 broad.mit.edu 37 4 94316852 94316852 + Missense_Mutation SNP C C G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr4:94316852C>G uc011cdt.1 + 9 1598 c.1340C>G c.(1339-1341)ACT>AGT p.T447S GRID2_uc011cdu.1_Missense_Mutation_p.T352S NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 447 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CGTGTAGTAACTGTTCTGGTA 0.383 C4orf37 285555 broad.mit.edu 37 4 99049733 99049733 + Missense_Mutation SNP C C A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr4:99049733C>A uc003htt.1 - 3 323 c.233G>T c.(232-234)AGA>ATA p.R78I NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 78 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) TGTAGGTGATCTTGAAATTTT 0.313 KIAA1109 84162 broad.mit.edu 37 4 123176382 123176382 + Missense_Mutation SNP A A G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr4:123176382A>G uc003ieh.2 + 38 6367 c.6322A>G c.(6322-6324)ATA>GTA p.I2108V KIAA1109_uc003iel.1_Missense_Mutation_p.I43V|KIAA1109_uc003iek.2_Missense_Mutation_p.I727V NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2108 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 ACTATGTAATATACTACACCA 0.333 ADAD1 132612 broad.mit.edu 37 4 123336720 123336720 + Missense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr4:123336720G>T uc003ieo.2 + 11 1668 c.1436G>T c.(1435-1437)GGA>GTA p.G479V ADAD1_uc003iep.2_Missense_Mutation_p.G468V|ADAD1_uc003ieq.2_Missense_Mutation_p.G461V NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 479 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TGGGCACAAGGAGATGTTTCT 0.348 SPATA5 166378 broad.mit.edu 37 4 123868603 123868603 + Silent SNP A A G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr4:123868603A>G uc003iez.3 + 9 1747 c.1674A>G c.(1672-1674)GGA>GGG p.G558G SPATA5_uc003iey.2_Silent_p.G557G NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 558 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 GTGCTCATGGATACGTTGGAG 0.468 ADCY2 108 broad.mit.edu 37 5 7802364 7802364 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr5:7802364G>A uc003jdz.1 + 21 2729 c.2662G>A c.(2662-2664)GTC>ATC p.V888I ADCY2_uc011cmo.1_Missense_Mutation_p.V708I|ADCY2_uc010itm.1_Missense_Mutation_p.V84I NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 888 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.V888I(2) ovary(5)|pancreas(1)|skin(1) 7 CTGCGTCTGCGTCATGTTTGC 0.488 VCAN 1462 broad.mit.edu 37 5 82808156 82808156 + Missense_Mutation SNP T T A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr5:82808156T>A uc003kii.3 + 6 1339 c.983T>A c.(982-984)TTT>TAT p.F328Y VCAN_uc003kij.3_Missense_Mutation_p.F328Y|VCAN_uc010jau.2_Missense_Mutation_p.F328Y|VCAN_uc003kik.3_Missense_Mutation_p.F328Y|VCAN_uc003kih.3_Missense_Mutation_p.F328Y NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 328 Link 2. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTGTATCGTTTTGAGAACCAG 0.493 PCDHB10 56126 broad.mit.edu 37 5 140572528 140572528 + Missense_Mutation SNP G G A rs2907324 TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr5:140572528G>A uc003lix.2 + 1 577 c.403G>A c.(403-405)GAC>AAC p.D135N NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 135 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTATTTCAGGACAAAGAAAC 0.408 FAT2 2196 broad.mit.edu 37 5 150945845 150945845 + Missense_Mutation SNP C C T rs147663319 TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr5:150945845C>T uc003lue.3 - 1 2661 c.2648G>A c.(2647-2649)CGC>CAC p.R883H GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.R883H NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 883 Extracellular (Potential).|Cadherin 7. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCTGATTCGCGGTCCAGGTG 0.552 PECI 10455 broad.mit.edu 37 6 4119493 4119493 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr6:4119493G>A uc003mwf.2 - 8 849 c.812C>T c.(811-813)CCA>CTA p.P271L C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Missense_Mutation_p.P104L|PECI_uc003mwd.2_Missense_Mutation_p.P241L|PECI_uc003mwe.2_Missense_Mutation_p.P118L|PECI_uc010jnr.1_RNA NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 271 ECH-like. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) GTGACTAAATGGTGTATGAAA 0.328 TNXB 7148 broad.mit.edu 37 6 32035600 32035600 + Missense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr6:32035600G>T uc003nzl.2 - 18 6584 c.6382C>A c.(6382-6384)CAG>AAG p.Q2128K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2200 Fibronectin type-III 14. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCCTTGTACTGCACGGTGAAG 0.667 C6orf174 387104 broad.mit.edu 37 6 127797234 127797234 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr6:127797234C>T uc003qbd.2 - 6 2802 c.1937G>A c.(1936-1938)CGG>CAG p.R646Q C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 646 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CAGGTGCTGCCGCAGCTCCGA 0.637 SYNE1 23345 broad.mit.edu 37 6 152647757 152647757 + Silent SNP A A C TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr6:152647757A>C uc010kiw.2 - 79 15569 c.14967T>G c.(14965-14967)ACT>ACG p.T4989T SYNE1_uc003qot.3_Silent_p.T4918T|SYNE1_uc003qou.3_Silent_p.T4989T|SYNE1_uc010kiz.2_Silent_p.T744T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4989 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATATATTTCAGTCAAGGTAG 0.413 HNSCC(10;0.0054) FAM188B 84182 broad.mit.edu 37 7 30922556 30922556 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:30922556G>A uc003tbt.2 + 17 2250 c.2173G>A c.(2173-2175)GAG>AAG p.E725K FAM188B_uc010kwe.2_Missense_Mutation_p.E696K|AQP1_uc011kac.1_Missense_Mutation_p.E71K|FAM188B_uc003tbu.2_Missense_Mutation_p.E245K NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 725 0 AACCATCTCTGAGGACACAGA 0.582 NUDCD3 23386 broad.mit.edu 37 7 44431997 44431997 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:44431997G>A uc003tkz.2 - 5 1060 c.874C>T c.(874-876)CGC>TGC p.R292C NUDCD3_uc010kye.2_RNA NM_015332 NP_056147 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 292 0 GCCATGGAGCGCTCCTTGTTG 0.572 POM121L12 285877 broad.mit.edu 37 7 53103920 53103920 + Missense_Mutation SNP C C A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:53103920C>A uc003tpz.2 + 1 572 c.556C>A c.(556-558)CCC>ACC p.P186T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 186 0 CAGCCAGTGCCCCAAGGGAAG 0.577 GRM3 2913 broad.mit.edu 37 7 86416261 86416261 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:86416261G>A uc003uid.2 + 3 2252 c.1153G>A c.(1153-1155)GAG>AAG p.E385K GRM3_uc010lef.2_Missense_Mutation_p.E383K|GRM3_uc010leg.2_Missense_Mutation_p.E257K|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 385 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAGCAACTACGAGCAAGAGTC 0.557 C7orf61 402573 broad.mit.edu 37 7 100061261 100061261 + Missense_Mutation SNP C C G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:100061261C>G uc003uuz.1 - 2 358 c.112G>C c.(112-114)GAC>CAC p.D38H NM_001004323 NP_001004323 Q8IZ16 CG061_HUMAN hypothetical protein LOC402573 38 0 TTCTTGGAGTCAGGGTGTCCT 0.498 FBXO24 26261 broad.mit.edu 37 7 100190614 100190614 + Missense_Mutation SNP C C A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:100190614C>A uc003uvm.1 + 5 1060 c.767C>A c.(766-768)ACC>AAC p.T256N FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.T242N|FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.T294N|FBXO24_uc011kka.1_Missense_Mutation_p.T244N NM_033506 NP_277041 O75426 FBX24_HUMAN F-box only protein 24 isoform 1 256 ubiquitin ligase complex ubiquitin-protein ligase activity ovary(3)|skin(1) 4 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGTCAGGAGACCCAGCGGGCT 0.418 ZNF282 8427 broad.mit.edu 37 7 148895532 148895532 + Silent SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:148895532G>A uc003wfm.2 + 2 378 c.273G>A c.(271-273)TTG>TTA p.L91L ZNF282_uc011kun.1_Silent_p.L91L|ZNF282_uc003wfn.2_Silent_p.L31L|ZNF282_uc003wfo.2_Silent_p.L31L NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 91 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) AGCCCCAGTTGCCCACAGCAG 0.617 DNAJB6 10049 broad.mit.edu 37 7 157155939 157155939 + Silent SNP G G A rs141947451 by1000genomes TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:157155939G>A uc003wnk.2 + 3 304 c.150G>A c.(148-150)GCG>GCA p.A50A DNAJB6_uc003wnj.2_Silent_p.A50A|DNAJB6_uc003wnl.2_Silent_p.A37A|DNAJB6_uc011kvy.1_Intron|DNAJB6_uc011kvz.1_Silent_p.A50A|DNAJB6_uc010lqt.2_Silent_p.A50A NM_058246 NP_490647 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 50 Interaction with HSP70.|J. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding ovary(2) 2 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) AGCAAGTAGCGGAGGCATATG 0.493 PXDNL 137902 broad.mit.edu 37 8 52321614 52321614 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr8:52321614G>A uc003xqu.3 - 17 2671 c.2570C>T c.(2569-2571)GCG>GTG p.A857V PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 857 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATGCAGGGCGCGTGGGTGCC 0.682 SLC10A5 347051 broad.mit.edu 37 8 82606874 82606874 + Missense_Mutation SNP C C G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr8:82606874C>G uc011lfs.1 - 1 334 c.334G>C c.(334-336)GAA>CAA p.E112Q NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN solute carrier family 10 (sodium/bile acid 112 Extracellular (Potential). integral to membrane bile acid:sodium symporter activity 0 ATGAGTCTTTCTTGCCTACCT 0.368 ZFAT 57623 broad.mit.edu 37 8 135613822 135613822 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr8:135613822C>T uc003yup.2 - 6 2315 c.2140G>A c.(2140-2142)GCT>ACT p.A714T ZFAT_uc003yun.2_Missense_Mutation_p.A702T|ZFAT_uc003yuo.2_Missense_Mutation_p.A702T|ZFAT_uc010meh.2_Missense_Mutation_p.A702T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A702T|ZFAT_uc010mej.2_Missense_Mutation_p.A652T|ZFAT_uc003yur.2_Missense_Mutation_p.A702T NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 714 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TTCATGAAAGCGGTGATGCCT 0.542 PLEC 5339 broad.mit.edu 37 8 144998131 144998131 + Missense_Mutation SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr8:144998131C>T uc003zaf.1 - 31 6547 c.6377G>A c.(6376-6378)CGC>CAC p.R2126H PLEC_uc003zab.1_Missense_Mutation_p.R1989H|PLEC_uc003zac.1_Missense_Mutation_p.R1993H|PLEC_uc003zad.2_Missense_Mutation_p.R1989H|PLEC_uc003zae.1_Missense_Mutation_p.R1957H|PLEC_uc003zag.1_Missense_Mutation_p.R1967H|PLEC_uc003zah.2_Missense_Mutation_p.R1975H|PLEC_uc003zaj.2_Missense_Mutation_p.R2016H NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2126 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CTTCTGCACGCGCTCCTCAGC 0.736 SMARCA2 6595 broad.mit.edu 37 9 2054682 2054682 + Missense_Mutation SNP G G T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr9:2054682G>T uc003zhc.2 + 6 1231 c.1132G>T c.(1132-1134)GTG>TTG p.V378L SMARCA2_uc003zhd.2_Missense_Mutation_p.V378L|SMARCA2_uc010mha.2_Missense_Mutation_p.V369L NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 378 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) CAAAGCAACCGTGGAACTAAA 0.408 CNTLN 54875 broad.mit.edu 37 9 17416105 17416105 + Missense_Mutation SNP A A G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr9:17416105A>G uc003zmz.2 + 18 3055 c.3029A>G c.(3028-3030)GAA>GGA p.E1010G CNTLN_uc003zmy.2_Missense_Mutation_p.E1011G|CNTLN_uc010mio.2_Missense_Mutation_p.E690G NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1011 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) TCTGTTAAAGAATATAAAGAA 0.343 MUSK 4593 broad.mit.edu 37 9 113496549 113496549 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr9:113496549G>A uc004bey.2 + 6 745 c.647G>A c.(646-648)CGG>CAG p.R216Q MUSK_uc004bex.2_Missense_Mutation_p.R226Q NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 216 Ig-like 3.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 AGGATCCTGCGGGCTCCTGAA 0.438 FAM9B 171483 broad.mit.edu 37 X 8998322 8998322 + Silent SNP C C T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chrX:8998322C>T uc011mhu.1 - 4 350 c.261G>A c.(259-261)TTG>TTA p.L87L FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Intron NM_205849 NP_995321 Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 87 nucleus 0 Hepatocellular(5;0.219) GCTTTTTTCTCAAAGCATGTT 0.279 CNKSR2 22866 broad.mit.edu 37 X 21667117 21667117 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chrX:21667117G>A uc004czx.1 + 21 2897 c.2861G>A c.(2860-2862)CGG>CAG p.R954Q CNKSR2_uc011mjo.1_Missense_Mutation_p.R924Q NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 954 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AAACTACACCGGCTGAGAATT 0.343 PCDH11X 27328 broad.mit.edu 37 X 91090690 91090690 + Missense_Mutation SNP T T G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chrX:91090690T>G uc004efk.1 + 1 1032 c.187T>G c.(187-189)TTC>GTC p.F63V PCDH11X_uc004efl.1_Missense_Mutation_p.F63V|PCDH11X_uc004efo.1_Missense_Mutation_p.F63V|PCDH11X_uc010nmv.1_Missense_Mutation_p.F63V|PCDH11X_uc004efm.1_Missense_Mutation_p.F63V|PCDH11X_uc004efn.1_Missense_Mutation_p.F63V|PCDH11X_uc004efh.1_Missense_Mutation_p.F63V|PCDH11X_uc004efj.1_Missense_Mutation_p.F63V NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 63 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TGCTATGCAGTTCAAGCTAGT 0.453 TEX13B 56156 broad.mit.edu 37 X 107224569 107224569 + Missense_Mutation SNP G G A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chrX:107224569G>A uc004enn.1 - 3 773 c.680C>T c.(679-681)GCT>GTT p.A227V NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 227 ovary(1) 1 TGCTACAATAGCTCCGAGGGG 0.587 APBB1IP 54518 broad.mit.edu 37 10 26856151 26856151 + Frame_Shift_Del DEL C C - TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr10:26856151delC uc001iss.2 + 15 2056 c.1735delC c.(1735-1737)CCCfs p.P579fs NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 579 Pro-rich. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CATGGAGCCGCCCCCAGACTT 0.493 COQ9 57017 broad.mit.edu 37 16 57481420 57481422 + In_Frame_Del DEL GGC GGC - TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr16:57481420_57481422delGGC uc002elq.2 + 1 19_21 c.3_5delGGC c.(1-6)ATGGCG>ATG p.A5del CIAPIN1_uc002ell.1_5'Flank|CIAPIN1_uc002elm.1_5'Flank|CIAPIN1_uc002eln.1_5'Flank|CIAPIN1_uc010cda.1_5'Flank|CIAPIN1_uc002elo.1_5'Flank|COQ9_uc002elp.1_In_Frame_Del_p.A5del|COQ9_uc010vhn.1_In_Frame_Del_p.A5del|COQ9_uc010vho.1_In_Frame_Del_p.A5del|COQ9_uc010vhp.1_In_Frame_Del_p.A5del|COQ9_uc002elr.2_In_Frame_Del_p.A5del NM_020312 NP_064708 O75208 COQ9_HUMAN coenzyme Q9 homolog precursor 5 ubiquinone biosynthetic process mitochondrion breast(1) 1 CTTCCAAAATGGCGGCGGCGGCG 0.729 TP53 7157 broad.mit.edu 37 17 7579442 7579442 + Frame_Shift_Del DEL G G - TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr17:7579442delG uc002gim.2 - 4 439 c.245delC c.(244-246)CCGfs p.P82fs TP53_uc002gig.1_Frame_Shift_Del_p.P82fs|TP53_uc002gih.2_Frame_Shift_Del_p.P82fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P82fs|TP53_uc010cni.1_Frame_Shift_Del_p.P82fs|TP53_uc002gij.2_Frame_Shift_Del_p.P82fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P43fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P97fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 82 Interaction with WWOX.|Interaction with HRMT1L2. P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.P82L(5)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79_A88del10(1)|p.P82fs*43(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P82fs*67(1)|p.P82P(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGGGCCGCCGGTGTAGGAGC 0.607 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) SCN7A 6332 broad.mit.edu 37 2 167322420 167322421 + Frame_Shift_Ins INS - - A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:167322420_167322421insA uc002udu.1 - 7 868_869 c.741_742insT c.(739-744)TTTCTGfs p.F247fs SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 247_248 Helical; Name=S5 of repeat I; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 AATATGCTCAGAAAAAACAGAG 0.411 RNF122 79845 broad.mit.edu 37 8 33416169 33416182 + Frame_Shift_Del DEL AAGACAAAGATGCC AAGACAAAGATGCC - TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr8:33416169_33416182delAAGACAAAGATGCC uc003xjo.1 - 2 535_548 c.133_146delGGCATCTTTGTCTT c.(133-147)GGCATCTTTGTCTTCfs p.G45fs NM_024787 NP_079063 Q9H9V4 RN122_HUMAN ring finger protein 122 45_49 Helical; (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) GCTGAGCATGAAGACAAAGATGCCTGTGCCGAAG 0.556 GPR124 25960 broad.mit.edu 37 8 37699349 37699350 + Frame_Shift_Ins INS - - G TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr8:37699349_37699350insG uc003xkj.2 + 19 3856_3857 c.3493_3494insG c.(3493-3495)CGGfs p.R1165fs GPR124_uc010lvy.2_Frame_Shift_Ins_p.R948fs NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 1165 Cytoplasmic (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GGCGGGCACCCGGGGAAACCTC 0.644 SCN7A 6332 broad.mit.edu 37 2 167322421 167322422 + Frame_Shift_Ins INS - - A TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr2:167322420_167322421G>GA uc002udu.2 - 6 871_872 c.741_742C>TC c.(739-744)tttctgfs p.F247fs SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 247 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AATATGCTCAGAAAAAACAGAG 0.411 WDFY3 23001 broad.mit.edu 37 4 85675010 85675012 + In_Frame_Del DEL TCT TCT - TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr4:85675009_85675011CTCT>C uc003hpd.3 - 34 5986_5988 c.5578_5580AGAG>G c.(5578-5580)gag>G p.E1860del NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 1860 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCAAGATCCCTCTTCTTCTGAT 0.424 PCLO 27445 broad.mit.edu 37 7 82595406 82595407 + Frame_Shift_Ins INS - - T TCGA-BR-A4PF-01A-11D-A25D-08 TCGA-BR-A4PF-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c76e84-85ce-4f2a-b6af-cd7c54621eac 76a41921-d5cb-4385-9294-760aeeae29c2 g.chr7:82595405_82595406C>CT uc003uhx.2 - 3 3987_3988 c.3698_3699G>AG c.(3697-3699)aagfs p.K1233fs PCLO_uc003uhv.2_Frame_Shift_Ins_p.K1233fs NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1172 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTAGGAGTGGCTTTTTTTCTTC 0.386