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 ABCA4 24 broad.mit.edu 37 1 94546153 94546153 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr1:94546153G>A uc001dqh.2 - 8 1084 c.980C>T c.(979-981)CCC>CTC p.P327L ABCA4_uc010otn.1_Missense_Mutation_p.P327L NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 327 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ACCTCCCTCGGGGTAGCCACA 0.532 CSDE1 7812 broad.mit.edu 37 1 115266562 115266562 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr1:115266562C>T uc001efk.2 - 16 2281 c.1815G>A c.(1813-1815)CTG>CTA p.L605L CSDE1_uc001efi.2_Silent_p.L651L|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Silent_p.L574L|CSDE1_uc001efm.2_Silent_p.L620L|CSDE1_uc009wgv.2_Silent_p.L605L|CSDE1_uc001efn.2_Silent_p.L574L NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 605 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAACACTCCTCAGGGGGCGAA 0.423 FLG 2312 broad.mit.edu 37 1 152286012 152286012 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr1:152286012G>T uc001ezu.1 - 3 1386 c.1350C>A c.(1348-1350)CAC>CAA p.H450Q uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 450 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGACTCTTGGTGGCTCTGCT 0.577 Ichthyosis SLAMF6 114836 broad.mit.edu 37 1 160465991 160465991 + Missense_Mutation SNP T T C rs61761948 TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr1:160465991T>C uc001fwe.1 - 2 302 c.242A>G c.(241-243)AAA>AGA p.K81R SLAMF6_uc001fwd.1_Missense_Mutation_p.K81R|SLAMF6_uc010pjh.1_Missense_Mutation_p.K32R|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Missense_Mutation_p.K32R NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 81 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) CTTTCCCTGTTTCGGATTAGT 0.463 HMCN1 83872 broad.mit.edu 37 1 186158760 186158760 + Missense_Mutation SNP G G A rs148530862 TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr1:186158760G>A uc001grq.1 + 107 16887 c.16658G>A c.(16657-16659)CGG>CAG p.R5553Q HMCN1_uc001grs.1_Missense_Mutation_p.R1005Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5553 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GATTTAATCCGGCTGGTTGCA 0.468 KLHL12 59349 broad.mit.edu 37 1 202878254 202878254 + Splice_Site SNP T T A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr1:202878254T>A uc001gyo.1 - 6 918 c.718_splice c.e6-1 p.P240_splice KLHL12_uc001gym.1_5'UTR|KLHL12_uc001gyn.1_Splice_Site_p.P90_splice|KLHL12_uc010pqc.1_Splice_Site_p.P278_splice|KLHL12_uc009xah.1_Splice_Site_p.P240_splice NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) GATGAAAGGCTGAAATATAGC 0.438 DCLRE1C 64421 broad.mit.edu 37 10 14976747 14976747 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:14976747C>T uc001inn.2 - 7 577 c.492G>A c.(490-492)TTG>TTA p.L164L DCLRE1C_uc010qbx.1_Silent_p.L164L|DCLRE1C_uc001inl.2_Silent_p.L44L|DCLRE1C_uc009xji.2_Silent_p.L49L|DCLRE1C_uc001inm.2_Silent_p.L44L|DCLRE1C_uc001ino.2_Silent_p.L49L|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Silent_p.L44L|DCLRE1C_uc001inq.2_Silent_p.L44L|DCLRE1C_uc001inr.2_Silent_p.L49L|DCLRE1C_uc009xjj.1_RNA NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 164 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 ACGTAGTATCCAAATATACAC 0.343 Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ FAM21A 387680 broad.mit.edu 37 10 51827887 51827887 + Missense_Mutation SNP A A G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:51827887A>G uc001jjb.2 + 2 108 c.26A>G c.(25-27)CAG>CGG p.Q9R uc001jiz.1_5'Flank|FAM21A_uc001jja.1_5'UTR|FAM21A_uc010qhi.1_Missense_Mutation_p.Q9R|FAM21A_uc010qhj.1_Missense_Mutation_p.Q9R NM_001005751 NP_001005751 Q641Q2 FA21A_HUMAN hypothetical protein LOC387680 9 retrograde transport, endosome to Golgi early endosome membrane|WASH complex ovary(1) 1 ACCCCCGACCAGGAGCTGGCG 0.711 ASAH2 56624 broad.mit.edu 37 10 52003054 52003054 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:52003054G>A uc001jjd.2 - 3 418 c.418C>T c.(418-420)CGT>TGT p.R140C ASAH2_uc009xos.2_Missense_Mutation_p.R140C NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 140 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 ATGAAGGCACGACTGTATAGC 0.512 ANK3 288 broad.mit.edu 37 10 61932869 61932869 + Missense_Mutation SNP C C G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:61932869C>G uc001jky.2 - 19 2452 c.2260G>C c.(2260-2262)GCA>CCA p.A754P ANK3_uc001jkx.2_5'Flank|ANK3_uc010qih.1_Missense_Mutation_p.A737P|ANK3_uc001jkz.3_Missense_Mutation_p.A748P|ANK3_uc001jlb.1_Missense_Mutation_p.A283P|ANK3_uc001jlc.1_Missense_Mutation_p.A415P NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 754 ANK 21. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTAACTTTTGCAGAATGCTGG 0.343 PTEN 5728 broad.mit.edu 37 10 89653785 89653785 + Missense_Mutation SNP T T G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:89653785T>G uc001kfb.2 + 3 1114 c.83T>G c.(82-84)ATT>AGT p.I28S NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 28 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(4)|p.Y27fs*1(3)|p.Y27_N212>Y(2)|p.I28M(1)|p.I28fs*17(1)|p.Y29fs*25(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TACTCAGATATTTATCCAAAC 0.294 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) IFIT1 3434 broad.mit.edu 37 10 91162119 91162119 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:91162119C>T uc001kgi.2 + 2 235 c.87C>T c.(85-87)GAC>GAT p.D29D LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|IFIT1_uc009xtt.2_Silent_p.D29D|IFIT1_uc001kgj.2_Translation_Start_Site NM_001548 NP_001539 P09914 IFIT1_HUMAN interferon-induced protein with 29 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding 0 CCATTGATGACGATGAAATGC 0.383 LBX1 10660 broad.mit.edu 37 10 102987212 102987212 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:102987212C>T uc001ksx.2 - 2 806 c.661G>A c.(661-663)GGT>AGT p.G221S uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 221 Poly-Gly. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) CCGCCGCCACCGCCGGCTGTG 0.741 C10orf82 143379 broad.mit.edu 37 10 118424407 118424407 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:118424407G>T uc001lcr.2 - 4 381 c.326C>A c.(325-327)GCA>GAA p.A109E C10orf82_uc001lcs.1_3'UTR NM_144661 NP_653262 Q8WW14 CJ082_HUMAN hypothetical protein LOC143379 109 0 all cancers(201;0.0143) CAGGTAGCCTGCCCAGCCAGG 0.493 C10orf120 399814 broad.mit.edu 37 10 124457429 124457429 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr10:124457429G>A uc001lgn.2 - 3 860 c.828C>T c.(826-828)ATC>ATT p.I276I NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN hypothetical protein LOC399814 276 kidney(1) 1 all_neural(114;0.169)|Glioma(114;0.222) TTAGGCCTGCGATGGACCGTT 0.398 OR52A4 390053 broad.mit.edu 37 11 5142176 5142176 + Silent SNP A A G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr11:5142176A>G uc001lzz.1 - 1 633 c.633T>C c.(631-633)GTT>GTC p.V211V NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CAAGCCCACCAACAATAAATG 0.393 SLC17A6 57084 broad.mit.edu 37 11 22363309 22363309 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr11:22363309G>A uc001mqk.2 + 2 735 c.322G>A c.(322-324)GGC>AGC p.G108S NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 108 Vesicular (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 CCACCGCGGGGGCAAGGTCAT 0.627 OR8H3 390152 broad.mit.edu 37 11 55890333 55890333 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr11:55890333C>T uc001nii.1 + 1 485 c.485C>T c.(484-486)TCC>TTC p.S162F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) AATGTGGTTTCCATGAGCAGA 0.438 HTR3A 3359 broad.mit.edu 37 11 113853876 113853876 + Missense_Mutation SNP G G A rs139646314 TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr11:113853876G>A uc010rxb.1 + 5 660 c.427G>A c.(427-429)GTG>ATG p.V143M HTR3A_uc010rxa.1_Missense_Mutation_p.V143M|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V122M NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 137 Extracellular (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TATCCCGTACGTGTATATTCG 0.532 CLEC9A 283420 broad.mit.edu 37 12 10215774 10215774 + Missense_Mutation SNP C C T rs149852205 TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr12:10215774C>T uc001qxa.2 + 7 1053 c.440C>T c.(439-441)ACG>ATG p.T147M NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 147 Extracellular (Potential).|C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 GAAGGTTCCACGCTGCTACAA 0.348 ERBB3 2065 broad.mit.edu 37 12 56495354 56495354 + Missense_Mutation SNP C C G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr12:56495354C>G uc001sjh.2 + 28 3737 c.3544C>G c.(3544-3546)CTC>GTC p.L1182V ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.L539V|ERBB3_uc010sqc.1_Missense_Mutation_p.L1123V|ERBB3_uc009zok.2_Missense_Mutation_p.L447V|ERBB3_uc001sjk.2_Missense_Mutation_p.L423V|ERBB3_uc001sjl.2_Missense_Mutation_p.L302V|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 1182 Cytoplasmic (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TTCAGTGGGTCTCAGTTCTGT 0.517 LATS2 26524 broad.mit.edu 37 13 21555776 21555776 + Missense_Mutation SNP T T C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr13:21555776T>C uc009zzs.2 - 6 2859 c.2494A>G c.(2494-2496)AGA>GGA p.R832G LATS2_uc001unr.3_Missense_Mutation_p.R832G NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 832 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CTGTCCTGTCTGACATGGCTC 0.493 KIAA1704 55425 broad.mit.edu 37 13 45578502 45578502 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr13:45578502G>A uc001uzq.2 + 2 254 c.151G>A c.(151-153)GAA>AAA p.E51K KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Missense_Mutation_p.E51K|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'Flank NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN hypothetical protein LOC55425 51 pancreas(1)|skin(1) 2 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) AGACAGCGATGAAGACAGTAG 0.388 CDAN1 146059 broad.mit.edu 37 15 43021535 43021535 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr15:43021535C>T uc001zql.2 - 18 2550 c.2433G>A c.(2431-2433)TCG>TCA p.S811S CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.S137S NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 811 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CTGACACCCACGAAGCGAGCA 0.567 ANPEP 290 broad.mit.edu 37 15 90347484 90347484 + Missense_Mutation SNP C C A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr15:90347484C>A uc002bop.3 - 6 1471 c.1179G>T c.(1177-1179)CAG>CAT p.Q393H NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 393 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGGGGTCTACCTGGTGGGCCA 0.642 EEF2K 29904 broad.mit.edu 37 16 22268610 22268610 + Nonsense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr16:22268610C>T uc002dki.2 + 8 1290 c.805C>T c.(805-807)CAG>TAG p.Q269* EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 269 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) TTCCGGCCATCAGCTGATAGT 0.562 WSCD1 23302 broad.mit.edu 37 17 6021341 6021341 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr17:6021341G>A uc010cli.2 + 8 1587 c.1208G>A c.(1207-1209)CGA>CAA p.R403Q WSCD1_uc002gcn.2_Missense_Mutation_p.R403Q|WSCD1_uc002gco.2_Missense_Mutation_p.R403Q|WSCD1_uc010clj.2_Missense_Mutation_p.R94Q NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 403 integral to membrane sulfotransferase activity 0 TGGCGGAGCCGACGCACCATC 0.557 TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr17:7578413C>T uc002gim.2 - 5 711 c.517G>A c.(517-519)GTG>ATG p.V173M TP53_uc002gig.1_Missense_Mutation_p.V173M|TP53_uc002gih.2_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.1_Missense_Mutation_p.V134M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 173 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (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.V173L(54)|p.V173M(40)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V80L(2)|p.V173fs*59(2)|p.V41L(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.V80M(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V41M(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) CAGCGCCTCACAACCTCCGTC 0.662 111 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) NDEL1 81565 broad.mit.edu 37 17 8349043 8349043 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr17:8349043G>A uc002glj.2 + 3 298 c.101G>A c.(100-102)CGG>CAG p.R34Q NDEL1_uc002gli.2_Missense_Mutation_p.R34Q NM_030808 NP_110435 Q9GZM8 NDEL1_HUMAN nudE nuclear distribution gene E homolog (A. 34 Potential. chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle 0 CAGGAAGCTCGGGATGAGCTA 0.423 ALDH3A2 224 broad.mit.edu 37 17 19555900 19555900 + Missense_Mutation SNP T T A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr17:19555900T>A uc002gwb.1 + 3 647 c.426T>A c.(424-426)AAT>AAA p.N142K ALDH3A2_uc002gwa.1_Missense_Mutation_p.N142K|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Missense_Mutation_p.N142K NM_000382 NP_000373 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3A2 isoform 2 142 Cytoplasmic. cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(2) 2 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) TGAGTGAAAATACAGCCAAGA 0.333 KPNB1 3837 broad.mit.edu 37 17 45757454 45757454 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr17:45757454G>A uc002ilt.1 + 20 2758 c.2422G>A c.(2422-2424)GAG>AAG p.E808K KPNB1_uc010wkw.1_Missense_Mutation_p.E663K|KPNB1_uc010wkx.1_Missense_Mutation_p.E592K NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 808 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TGCTGGAGATGAGGATCACAC 0.393 MUC16 94025 broad.mit.edu 37 19 9018164 9018164 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr19:9018164G>A uc002mkp.2 - 25 37978 c.37774C>T c.(37774-37776)CTG>TTG p.L12592L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12594 SEA 4.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCAGAGTACAGAAGGCCAACA 0.537 PDE4A 5141 broad.mit.edu 37 19 10568647 10568647 + Missense_Mutation SNP C C G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr19:10568647C>G uc002moj.2 + 8 1078 c.970C>G c.(970-972)CCC>GCC p.P324A PDE4A_uc002mok.2_Missense_Mutation_p.P298A|PDE4A_uc002mol.2_Missense_Mutation_p.P263A|PDE4A_uc002mom.2_Missense_Mutation_p.P85A|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_5'Flank NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 324 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GCCGCCCCCGCCCCCTGTACC 0.522 PRKCSH 5589 broad.mit.edu 37 19 11556203 11556203 + Splice_Site SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr19:11556203G>A uc002mrt.2 + 8 935 c.599_splice c.e8-1 p.E200_splice PRKCSH_uc002mru.2_Splice_Site_p.E200_splice|PRKCSH_uc010xlz.1_Splice_Site_p.E200_splice|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Splice_Site_p.E200_splice|PRKCSH_uc010dyb.2_Splice_Site_p.E200_splice NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 CTTCTTTACAGAGCAGCTGGC 0.572 CPAMD8 27151 broad.mit.edu 37 19 17122279 17122279 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr19:17122279C>T uc002nfb.2 - 5 654 c.622G>A c.(622-624)GAG>AAG p.E208K NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 161 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CTCACCTTCTCGTTGACAGGC 0.572 KIRREL2 84063 broad.mit.edu 37 19 36349318 36349318 + Missense_Mutation SNP C C T rs143964977 TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr19:36349318C>T uc002ocb.3 + 3 432 c.220C>T c.(220-222)CGG>TGG p.R74W KIRREL2_uc002obz.3_Missense_Mutation_p.R74W|KIRREL2_uc002oca.3_Missense_Mutation_p.R24W|KIRREL2_uc002occ.3_Missense_Mutation_p.R21W|KIRREL2_uc002ocd.3_Missense_Mutation_p.R71W NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 74 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGGTGGTCCCGGTACTGGAT 0.552 APLP1 333 broad.mit.edu 37 19 36370317 36370317 + Missense_Mutation SNP T T C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr19:36370317T>C uc002oce.2 + 17 2065 c.1927T>C c.(1927-1929)TAC>CAC p.Y643H APLP1_uc010xsz.1_Missense_Mutation_p.Y604H|APLP1_uc002ocf.2_Missense_Mutation_p.Y644H|APLP1_uc002ocg.2_Missense_Mutation_p.Y547H|APLP1_uc010xta.1_Missense_Mutation_p.Y637H NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 643 Clathrin-binding (Potential).|NPXY motif; contains endocytosis signal.|Cytoplasmic (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAACCCCACTTACCGCTTCCT 0.657 SLC6A16 28968 broad.mit.edu 37 19 49797748 49797748 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr19:49797748G>A uc002pmz.2 - 8 1526 c.1292C>T c.(1291-1293)CCT>CTT p.P431L SLC6A16_uc002pna.2_Missense_Mutation_p.P431L NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 431 Extracellular (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CAGGTTGACAGGGGGCTTGGC 0.502 TEAD2 8463 broad.mit.edu 37 19 49850456 49850456 + Silent SNP G G C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr19:49850456G>C uc002pnj.2 - 9 991 c.900C>G c.(898-900)GTC>GTG p.V300V TEAD2_uc002png.2_Silent_p.V303V|TEAD2_uc002pnh.2_Silent_p.V304V|TEAD2_uc002pni.2_Silent_p.V303V|TEAD2_uc010yao.1_Silent_p.V172V|TEAD2_uc010emw.2_Silent_p.V303V NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 300 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) CCCAGAACTTGACCAGGAAGA 0.547 KIAA1310 55683 broad.mit.edu 37 2 97271204 97271204 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr2:97271204G>T uc002swn.3 - 15 1932 c.1786C>A c.(1786-1788)CTT>ATT p.L596I KIAA1310_uc002swh.3_Missense_Mutation_p.L484I|KIAA1310_uc002swi.3_Missense_Mutation_p.L523I|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.L509I|KIAA1310_uc010fhz.2_Missense_Mutation_p.L416I|KIAA1310_uc002swl.3_Missense_Mutation_p.L497I|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.L390I|KIAA1310_uc002swo.2_5'UTR|KIAA1310_uc002swp.1_Missense_Mutation_p.L497I NM_001115016 NP_001108488 Q9P2N6 K1310_HUMAN hypothetical protein LOC55683 isoform a 622 0 TGAACCCTAAGATCCTCTTTC 0.502 AFF3 3899 broad.mit.edu 37 2 100181979 100181979 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr2:100181979G>A uc002tag.2 - 19 3325 c.3089C>T c.(3088-3090)ACG>ATG p.T1030M AFF3_uc002taf.2_Missense_Mutation_p.T1055M NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1030 T -> YL (in Ref. 1; AAA98763). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TGAATACATCGTATAAGGAGA 0.448 SDPR 8436 broad.mit.edu 37 2 192700704 192700704 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr2:192700704C>T uc002utb.2 - 2 1553 c.1223G>A c.(1222-1224)CGC>CAC p.R408H NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 408 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CCCATCGGAGCGCTCCGCCTC 0.622 SLC39A10 57181 broad.mit.edu 37 2 196548511 196548511 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr2:196548511C>T uc002utg.3 + 3 1311 c.1097C>T c.(1096-1098)GCA>GTA p.A366V SLC39A10_uc002uth.3_Missense_Mutation_p.A366V|SLC39A10_uc010zgp.1_5'UTR NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 366 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) CTTTGCCCTGCATTGTTATAT 0.358 UMODL1 89766 broad.mit.edu 37 21 43531059 43531059 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr21:43531059C>T uc002zaf.1 + 11 1727 c.1727C>T c.(1726-1728)ACG>ATG p.T576M UMODL1_uc002zad.1_Missense_Mutation_p.T504M|UMODL1_uc002zae.1_Missense_Mutation_p.T504M|UMODL1_uc002zag.1_Missense_Mutation_p.T576M|C21orf128_uc002zak.2_5'Flank NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 576 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 GGTCTTGGCACGGGAACAGCA 0.657 LGALS1 3956 broad.mit.edu 37 22 38074508 38074508 + Silent SNP C C T rs111593545 TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr22:38074508C>T uc003atn.2 + 3 205 c.108C>T c.(106-108)GGC>GGT p.G36G NM_002305 NP_002296 P09382 LEG1_HUMAN galectin-1 36 Galectin. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis cytoplasm|extracellular space|proteinaceous extracellular matrix galactoside binding|signal transducer activity 0 Melanoma(58;0.0574) TGAACCTGGGCAAAGACAGCA 0.622 SGEF 26084 broad.mit.edu 37 3 153973256 153973256 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr3:153973256C>T uc011bog.1 + 15 2821 c.2610C>T c.(2608-2610)AAC>AAT p.N870N SGEF_uc011boh.1_3'UTR|SGEF_uc011boi.1_Silent_p.N138N NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 870 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGGAGACCAACGTGTAGTCTC 0.453 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) ADD1 118 broad.mit.edu 37 4 2895781 2895781 + Silent SNP T T C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr4:2895781T>C uc003gfr.2 + 5 740 c.552T>C c.(550-552)CCT>CCC p.P184P ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.P184P|ADD1_uc003gfo.2_Silent_p.P184P|ADD1_uc003gfp.2_Silent_p.P184P|ADD1_uc003gfq.2_Silent_p.P184P|ADD1_uc003gfs.2_Silent_p.P184P|ADD1_uc003gft.3_Silent_p.P184P|ADD1_uc003gfu.2_5'UTR NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 184 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCATTGTCCCTTTTGGGCTTC 0.428 RPL9 6133 broad.mit.edu 37 4 39458038 39458038 + Missense_Mutation SNP G G C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr4:39458038G>C uc003gub.2 - 4 527 c.379C>G c.(379-381)CGG>GGG p.R127G RPL9_uc003guc.2_Missense_Mutation_p.R127G|RPL9_uc011byk.1_RNA|RPL9_uc011byl.1_Missense_Mutation_p.R127G|LIAS_uc003gue.3_5'Flank|LIAS_uc011bym.1_5'Flank|LIAS_uc003guf.2_5'Flank|LIAS_uc003gug.2_5'Flank|LIAS_uc003guh.2_5'Flank NM_001024921 NP_001020092 P32969 RL9_HUMAN ribosomal protein L9 127 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|nucleolus|ribosome rRNA binding|structural constituent of ribosome skin(1) 1 GGTCTCATCCGAACCCTGCGG 0.408 USP53 54532 broad.mit.edu 37 4 120177442 120177442 + Missense_Mutation SNP C C G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr4:120177442C>G uc003ics.3 + 7 1480 c.414C>G c.(412-414)AGC>AGG p.S138R USP53_uc003icr.3_Missense_Mutation_p.S138R|USP53_uc003icu.3_5'UTR NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 138 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 TAGTGCCAAGCAGAGATGCAG 0.343 MTNR1A 4543 broad.mit.edu 37 4 187455407 187455407 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr4:187455407G>A uc003izd.1 - 2 507 c.489C>T c.(487-489)CTC>CTT p.L163L NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 163 Helical; Name=4; (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TCCCTGCACGGAGGTTGGGCA 0.602 HIST1H3H 8357 broad.mit.edu 37 6 27777970 27777970 + Missense_Mutation SNP A A C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr6:27777970A>C uc003njm.2 + 1 129 c.119A>C c.(118-120)CAT>CCT p.H40P HIST1H2BL_uc003njl.2_5'Flank NM_003536 NP_003527 P68431 H31_HUMAN histone cluster 1, H3h 40 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 AAGAAGCCCCATCGCTATCGG 0.647 C6orf142 90523 broad.mit.edu 37 6 54034364 54034364 + Silent SNP C C A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr6:54034364C>A uc003pcg.3 + 8 1046 c.933C>A c.(931-933)ACC>ACA p.T311T C6orf142_uc003pcf.2_Silent_p.T835T|C6orf142_uc003pch.3_Silent_p.T155T|C6orf142_uc011dxa.1_Silent_p.T846T NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 311 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) GTCGAGAAACCAAATATGTAA 0.299 PHF3 23469 broad.mit.edu 37 6 64410303 64410303 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr6:64410303G>A uc003pep.1 + 8 3072 c.3046G>A c.(3046-3048)GAA>AAA p.E1016K PHF3_uc010kah.1_Missense_Mutation_p.E830K|PHF3_uc003pen.2_Missense_Mutation_p.E928K|PHF3_uc011dxs.1_Missense_Mutation_p.E285K NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1016 TFIIS central. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AATGAGTCCAGAAGAACTAGC 0.323 ARMC2 84071 broad.mit.edu 37 6 109274511 109274511 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr6:109274511G>A uc003pss.3 + 13 2046 c.1872G>A c.(1870-1872)CTG>CTA p.L624L ARMC2_uc011eao.1_Silent_p.L459L NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 624 ARM 9. binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) GCCCGGTGCTGGCCGCCAACC 0.667 AMD1 262 broad.mit.edu 37 6 111214017 111214017 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr6:111214017G>T uc003puk.1 + 7 1017 c.695G>T c.(694-696)GGA>GTA p.G232V AMD1_uc011eay.1_Missense_Mutation_p.G163V|AMD1_uc011eaz.1_Missense_Mutation_p.G203V|AMD1_uc011eba.1_Missense_Mutation_p.G112V|AMD1_uc003pul.1_Missense_Mutation_p.G84V NM_001634 NP_001625 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 isoform 1 232 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity upper_aerodigestive_tract(1) 1 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) TCGATGAATGGAATGAAATCG 0.393 GTF2IRD2 84163 broad.mit.edu 37 7 74212378 74212378 + Silent SNP T T C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr7:74212378T>C uc003ubd.1 - 16 1657 c.1473A>G c.(1471-1473)AAA>AAG p.K491K GTF2IRD2_uc010lbt.1_Silent_p.K38K NM_173537 NP_775808 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 tcctgagcccttttttcagct 0 NCAPG2 54892 broad.mit.edu 37 7 158476040 158476040 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr7:158476040G>A uc003wnv.1 - 9 1021 c.876C>T c.(874-876)CAC>CAT p.H292H NCAPG2_uc010lqu.1_Silent_p.H84H|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.H292H|NCAPG2_uc011kwe.1_Silent_p.H292H NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 292 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) GGTGTATCCCGTGGAACATGA 0.428 C8orf80 389643 broad.mit.edu 37 8 27884560 27884560 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr8:27884560C>T uc003xgm.3 - 18 2307 c.2164G>A c.(2164-2166)GTG>ATG p.V722M NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 722 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) ACCTTCTCCACGATTCCAGTC 0.532 PRKDC 5591 broad.mit.edu 37 8 48740855 48740855 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr8:48740855C>T uc003xqi.2 - 63 8508 c.8451G>A c.(8449-8451)TTG>TTA p.L2817L PRKDC_uc003xqj.2_Silent_p.L2817L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2817 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCATCTCTTTCAAAATTCCAG 0.323 NHEJ COL14A1 7373 broad.mit.edu 37 8 121256220 121256220 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr8:121256220G>A uc003yox.2 + 20 2717 c.2452G>A c.(2452-2454)GTC>ATC p.V818I COL14A1_uc003yoy.2_Missense_Mutation_p.V496I NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 818 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGGCGAAGGCGTCAGCGTCTC 0.493 BAI1 575 broad.mit.edu 37 8 143623631 143623631 + Missense_Mutation SNP G G C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr8:143623631G>C uc003ywm.2 + 27 4219 c.4036G>C c.(4036-4038)GTG>CTG p.V1346L NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1346 Cytoplasmic (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CACGAGCTACGTGATCCTGCC 0.642 ERMP1 79956 broad.mit.edu 37 9 5810125 5810125 + Missense_Mutation SNP A A C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr9:5810125A>C uc003zjm.1 - 8 1488 c.1434T>G c.(1432-1434)ATT>ATG p.I478M ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.I92M NM_024896 NP_079172 Q7Z2K6 ERMP1_HUMAN aminopeptidase Fxna 478 Helical; (Potential). proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity ovary(1) 1 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) GAGACTGTCCAATAAGAGAGA 0.403 DENND1A 57706 broad.mit.edu 37 9 126202698 126202698 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr9:126202698C>T uc004bnz.1 - 19 1662 c.1429G>A c.(1429-1431)GAG>AAG p.E477K DENND1A_uc011lzl.1_Missense_Mutation_p.E252K|DENND1A_uc004bny.1_Missense_Mutation_p.E216K|DENND1A_uc011lzm.1_Missense_Mutation_p.E445K|DENND1A_uc004boa.1_Missense_Mutation_p.E477K|DENND1A_uc004bob.1_Missense_Mutation_p.E447K|DENND1A_uc004boc.2_Missense_Mutation_p.E445K|DENND1A_uc010mwh.1_5'UTR NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 477 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 TCCTTGGCCTCCACCAGTGGG 0.577 SAGE1 55511 broad.mit.edu 37 X 134986673 134986673 + Silent SNP A A T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chrX:134986673A>T uc004ezh.2 + 4 425 c.258A>T c.(256-258)ATA>ATT p.I86I SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.1_Silent_p.I86I NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 86 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AAGAGAGGATAAATAACGGCC 0.448 MAGEC1 9947 broad.mit.edu 37 X 140994453 140994453 + Missense_Mutation SNP G G C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chrX:140994453G>C uc004fbt.2 + 4 1549 c.1263G>C c.(1261-1263)TTG>TTC p.L421F MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 421 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTACTTTATTGAGTATTTTAC 0.463 HNSCC(15;0.026) L1CAM 3897 broad.mit.edu 37 X 153134082 153134082 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chrX:153134082G>A uc004fjb.2 - 12 1588 c.1480C>T c.(1480-1482)CGC>TGC p.R494C L1CAM_uc004fjc.2_Missense_Mutation_p.R494C|L1CAM_uc010nuo.2_Missense_Mutation_p.R489C|L1CAM_uc004fjd.1_Missense_Mutation_p.R308C NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 494 Extracellular (Potential).|Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGAAGTAGCGTCCGGTGTCA 0.557 DNAJC6 9829 broad.mit.edu 37 1 65871724 65871724 + Frame_Shift_Del DEL A A - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr1:65871724delA uc001dcd.1 + 16 2392 c.2228delA c.(2227-2229)CACfs p.H743fs DNAJC6_uc010opc.1_Frame_Shift_Del_p.H730fs|DNAJC6_uc001dce.1_Frame_Shift_Del_p.H800fs NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 743 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 AGCATGCCCCACTCCTCTCCC 0.602 FAM86C 55199 broad.mit.edu 37 11 71498623 71498624 + Frame_Shift_Del DEL AG AG - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr11:71498623_71498624delAG uc001oqv.3 + 1 67_68 c.41_42delAG c.(40-42)CAGfs p.Q14fs FAM86C_uc009ysr.2_Frame_Shift_Del_p.Q14fs|FAM86C_uc001oqw.3_Frame_Shift_Del_p.Q14fs|FAM86C_uc009yss.2_RNA|FAM86C_uc010rqq.1_RNA NM_018172 NP_060642 Q9NVL1 FA86C_HUMAN hypothetical protein LOC55199 isoform 1 14 0 CTCTTGCTGCAGAGTTTCAAGC 0.644 KIF26A 26153 broad.mit.edu 37 14 104642071 104642071 + Frame_Shift_Del DEL G G - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr14:104642071delG uc001yos.3 + 12 2946 c.2946delG c.(2944-2946)GTGfs p.V982fs NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 982 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCCCTCCCGTGGGCATGAGTG 0.716 APC 324 broad.mit.edu 37 5 112175944 112175945 + Frame_Shift_Del DEL AG AG - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr5:112175944_112175945delAG uc010jby.2 + 16 5033_5034 c.4653_4654delAG c.(4651-4656)AAAGAGfs p.K1551fs APC_uc011cvt.1_Frame_Shift_Del_p.K1533fs|APC_uc003kpz.3_Frame_Shift_Del_p.K1551fs|APC_uc003kpy.3_Frame_Shift_Del_p.K1551fs|APC_uc010jbz.2_Frame_Shift_Del_p.K1268fs|APC_uc010jca.2_Frame_Shift_Del_p.K851fs NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1551_1552 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1552*(8)|p.K1192fs*3(1)|p.?(1)|p.K1551*(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ACCAAGAGAAAGAGGCAGAAAA 0.342 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) PTK7 5754 broad.mit.edu 37 6 43098042 43098063 + Frame_Shift_Del DEL AGCGGAACCTGACGCTCCGGCC AGCGGAACCTGACGCTCCGGCC - rs149112329 by1000genomes TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 g.chr6:43098041_43098062GAGCGGAACCTGACGCTCCGGCC>G uc011dve.1 + 3 610_631 c.568_589GAGCGGAACCTGACGCTCCGGCC>G c.(568-591)gagcggaacctgacgctccggccafs p.E190fs PTK7_uc003oub.1_Frame_Shift_Del_p.E182fs|PTK7_uc003ouc.1_Frame_Shift_Del_p.E182fs|PTK7_uc003oud.1_Frame_Shift_Del_p.E182fs|PTK7_uc003oue.1_Frame_Shift_Del_p.E182fs|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Intron|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Frame_Shift_Del_p.E182fs NM_002821 NP_002812 Q13308 PTK7_HUMAN Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA. 182 Ig-like C2-type 2. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.R188R(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CAGCAGCAAGGAGCGGAACCTGACGCTCCGGCCAGCTGGTCC 0.595