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 ATP13A2 23400 broad.mit.edu 37 1 17314833 17314833 + Missense_Mutation SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:17314833C>T uc001baa.2 - 24 2936 c.2746G>A c.(2746-2748)GTG>ATG p.V916M ATP13A2_uc001azz.1_Missense_Mutation_p.V63M|ATP13A2_uc001bab.2_Missense_Mutation_p.V911M|ATP13A2_uc001bac.2_Missense_Mutation_p.V872M NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 916 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) ACCATGGGCACGCACTCAATA 0.642 CNKSR1 10256 broad.mit.edu 37 1 26507077 26507077 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:26507077C>T uc001bln.3 + 2 244 c.186C>T c.(184-186)GGC>GGT p.G62G CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.G62G|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 62 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TCATCCTGGGCGGGGTGGAAC 0.657 GJB4 127534 broad.mit.edu 37 1 35227182 35227182 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:35227182C>T uc001bxv.1 + 2 697 c.327C>T c.(325-327)CAC>CAT p.H109H GJB4_uc001bxw.3_Silent_p.H109H NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 109 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACCTGAAACACGGGCCCAATG 0.632 MYSM1 114803 broad.mit.edu 37 1 59132729 59132729 + Missense_Mutation SNP T C C TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:59132729T>C uc009wab.1 - 16 2035 c.2012A>G c.(2011-2013)GAC>GGC p.D671G MYSM1_uc009waa.1_Missense_Mutation_p.D77G|MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 671 MPN. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) AGCTTGTGTGTCAATATCTCG 0.373 LRRC7 57554 broad.mit.edu 37 1 70505050 70505050 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:70505050C>T uc001dep.2 + 19 3459 c.3429C>T c.(3427-3429)TAC>TAT p.Y1143Y LRRC7_uc009wbg.2_Silent_p.Y427Y|LRRC7_uc001deq.2_Silent_p.Y384Y NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1143 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CTGATAGGTACGGCAGACCCC 0.557 TTF2 8458 broad.mit.edu 37 1 117603105 117603105 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:117603105C>T uc001egy.2 + 2 77 c.57C>T c.(55-57)GTC>GTT p.V19V TTF2_uc001egx.1_Silent_p.V19V NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 19 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AGACCGGCGTCCGCGATGGCC 0.582 AQP10 89872 broad.mit.edu 37 1 154294516 154294516 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:154294516C>T uc001feu.2 + 2 253 c.213C>T c.(211-213)TAC>TAT p.Y71Y AQP10_uc001fev.2_Silent_p.Y71Y NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 71 Helical; (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TAGCCATCTACGTGGGTGGTA 0.557 PIK3C2B 5287 broad.mit.edu 37 1 204410639 204410639 + Missense_Mutation SNP T G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:204410639T>G uc001haw.2 - 22 3688 c.3209A>C c.(3208-3210)AAT>ACT p.N1070T PIK3C2B_uc010pqv.1_Missense_Mutation_p.N1042T NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1070 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGGATCCACATTTTGGAAGGA 0.527 CHRM3 1131 broad.mit.edu 37 1 240071079 240071079 + Silent SNP C T T rs111407169 byFrequency TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr1:240071079C>T uc001hyp.2 + 5 1107 c.328C>T c.(328-330)CTG>TTG p.L110L NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 110 Helical; Name=2; (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCTCTTAAGCCTGGCCTGTGC 0.478 AKR1C1 1645 broad.mit.edu 37 10 5014817 5014817 + Missense_Mutation SNP T A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr10:5014817T>A uc001iho.2 + 12 1563 c.722T>A c.(721-723)CTT>CAT p.L241H AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Missense_Mutation_p.L241H NM_001353 NP_001344 Q04828 AK1C1_HUMAN aldo-keto reductase family 1, member C1 241 NADP (By similarity). bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process cytosol 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ovary(2) 2 NADH(DB00157) GACCCAGTCCTTTGTGCCTTG 0.592 SORCS3 22986 broad.mit.edu 37 10 107015536 107015536 + Missense_Mutation SNP T G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr10:107015536T>G uc001kyi.1 + 24 3541 c.3314T>G c.(3313-3315)GTG>GGG p.V1105G NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1105 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAAGTCATTGTGTATGTCACA 0.438 MADD 8567 broad.mit.edu 37 11 47307122 47307122 + Silent SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr11:47307122G>A uc001ner.1 + 14 2723 c.2532G>A c.(2530-2532)GGG>GGA p.G844G MADD_uc001neq.2_Silent_p.G844G|MADD_uc001nev.1_Silent_p.G801G|MADD_uc001nes.1_Silent_p.G801G|MADD_uc001net.1_Silent_p.G844G|MADD_uc009yln.1_Silent_p.G801G|MADD_uc001neu.1_Silent_p.G801G|MADD_uc001nex.2_Silent_p.G844G|MADD_uc001nez.2_Silent_p.G801G|MADD_uc001new.2_Silent_p.G844G NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 844 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) AGGGCTTCGGGGGCATCATGT 0.532 OR5T3 390154 broad.mit.edu 37 11 56019879 56019879 + Silent SNP C A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr11:56019879C>A uc010rjd.1 + 1 204 c.204C>A c.(202-204)ACC>ACA p.T68T NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 68 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ATCTCTTTACCTTGATAGGCA 0.373 MS4A3 932 broad.mit.edu 37 11 59834575 59834575 + Missense_Mutation SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr11:59834575C>T uc001nom.2 + 5 631 c.503C>T c.(502-504)TCC>TTC p.S168F MS4A3_uc001non.2_Missense_Mutation_p.S122F|MS4A3_uc001noo.2_Missense_Mutation_p.S45F NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 168 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) TACATGGGCTCCATATCAAAT 0.343 AHNAK 79026 broad.mit.edu 37 11 62300927 62300927 + Missense_Mutation SNP T G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr11:62300927T>G uc001ntl.2 - 5 1262 c.962A>C c.(961-963)GAG>GCG p.E321A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 321 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGTCTGGCCCTCACGCCCTGT 0.552 FLRT1 23769 broad.mit.edu 37 11 63884137 63884137 + Missense_Mutation SNP A G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr11:63884137A>G uc001nyi.1 + 2 739 c.398A>G c.(397-399)CAC>CGC p.H133R MACROD1_uc001nyh.2_Intron NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 105 LRR 3.|Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity 0 CGGGAGCTGCACCTGCAGGAC 0.602 KAT5 10524 broad.mit.edu 37 11 65482151 65482151 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr11:65482151C>T uc001ofi.2 + 8 1027 c.777C>T c.(775-777)GTC>GTT p.V259V KAT5_uc001ofj.2_Silent_p.V207V|KAT5_uc001ofk.2_Silent_p.V292V|KAT5_uc010roo.1_Silent_p.V240V|KAT5_uc001ofl.2_Silent_p.V48V NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 259 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 CATTGCCTGTCCTCTACCTGT 0.582 APOBEC1 339 broad.mit.edu 37 12 7805333 7805333 + Missense_Mutation SNP C T T rs149648198 TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr12:7805333C>T uc001qtb.2 - 3 177 c.143G>A c.(142-144)CGG>CAG p.R48Q APOBEC1_uc001qtc.2_Missense_Mutation_p.R3Q|APOBEC1_uc010sgf.1_Missense_Mutation_p.R48Q NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 48 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 CCAGATCTTCCGGCTCATGCC 0.453 ATF7IP 55729 broad.mit.edu 37 12 14589059 14589059 + Missense_Mutation SNP A T T rs141409610 TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr12:14589059A>T uc001rbw.2 + 4 1823 c.1665A>T c.(1663-1665)AAA>AAT p.K555N ATF7IP_uc010shs.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbu.2_Missense_Mutation_p.K555N|ATF7IP_uc001rbv.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbx.2_Missense_Mutation_p.K554N|ATF7IP_uc010sht.1_Missense_Mutation_p.K555N|ATF7IP_uc001rby.3_Missense_Mutation_p.K555N|ATF7IP_uc001rca.2_Missense_Mutation_p.K555N NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 555 Glu-rich.|Nuclear localization signal (By similarity). DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 CTAGACGAAAACGTTCTAAAT 0.348 FAM113B 91523 broad.mit.edu 37 12 47629951 47629951 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr12:47629951G>A uc001rpn.2 + 4 1836 c.1105G>A c.(1105-1107)GTC>ATC p.V369I FAM113B_uc001rpq.2_Missense_Mutation_p.V369I NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 369 Pro-rich. hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) AGGTTTCTTCGTCGAAGACAA 0.527 KRT84 3890 broad.mit.edu 37 12 52779219 52779219 + Missense_Mutation SNP C A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr12:52779219C>A uc001sah.1 - 1 199 c.151G>T c.(151-153)GGT>TGT p.G51C NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 51 Head. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) CTCCGACTACCAAAGCTGCCA 0.582 KRT76 51350 broad.mit.edu 37 12 53164870 53164870 + Missense_Mutation SNP C T T rs143394911 byFrequency TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr12:53164870C>T uc001sax.2 - 7 1451 c.1397G>A c.(1396-1398)CGT>CAT p.R466H NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 466 Rod.|Coil 2. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 CTGGTAGTCACGCAGGAGCCG 0.602 MMAB 326625 broad.mit.edu 37 12 109994906 109994906 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr12:109994906G>A uc001tou.2 - 9 753 c.680C>T c.(679-681)GCA>GTA p.A227V MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.A136V|MMAB_uc001tox.2_Missense_Mutation_p.A175V NM_052845 NP_443077 Q96EY8 MMAB_HUMAN cob(I)alamin adenosyltransferase precursor 227 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity 0 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTCATGGCTGCATATCTGGC 0.473 ZNF410 57862 broad.mit.edu 37 14 74360573 74360573 + Missense_Mutation SNP T C C TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr14:74360573T>C uc001xoz.1 + 3 289 c.107T>C c.(106-108)ATT>ACT p.I36T ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Missense_Mutation_p.I36T|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.I36T|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Missense_Mutation_p.I36T|ZNF410_uc001xpc.1_5'UTR NM_021188 NP_067011 Q86VK4 ZN410_HUMAN zinc finger protein 410 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00369) GCTAAAGATATTACTTGCTTG 0.443 GPR65 8477 broad.mit.edu 37 14 88478073 88478073 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr14:88478073C>T uc001xvv.2 + 2 1412 c.882C>T c.(880-882)ACC>ACT p.T294T NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 294 Helical; Name=7; (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 GTTTTGTAACCGAAACAGGAA 0.353 DICER1 23405 broad.mit.edu 37 14 95557393 95557393 + Missense_Mutation SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr14:95557393C>T uc001ydw.2 - 27 5763 c.5581G>A c.(5581-5583)GAA>AAA p.E1861K DICER1_uc010avh.1_Missense_Mutation_p.E759K|DICER1_uc001ydv.2_Missense_Mutation_p.E1851K|DICER1_uc001ydx.2_Missense_Mutation_p.E1861K NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1861 DRBM. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GTTTCTGGTTCCATTTCAAGC 0.323 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ ZSCAN2 54993 broad.mit.edu 37 15 85164337 85164337 + Missense_Mutation SNP A G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr15:85164337A>G uc002bkr.2 + 3 1137 c.911A>G c.(910-912)AAG>AGG p.K304R ZSCAN2_uc010bmz.1_Missense_Mutation_p.K302R|ZSCAN2_uc010bna.2_Missense_Mutation_p.K154R|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 304 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) ACGGGGGAAAAGCCCTTCCAG 0.577 PDZD9 255762 broad.mit.edu 37 16 21995750 21995750 + Silent SNP G A A rs146108684 byFrequency TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr16:21995750G>A uc002dka.1 - 5 764 c.447C>T c.(445-447)GAC>GAT p.D149D NM_173806 NP_776167 Q8IXQ8 PDZD9_HUMAN hypothetical protein LOC255762 211 pancreas(1) 1 CTTTCTTGTCGTCTCTGTGAA 0.423 IL27 246778 broad.mit.edu 37 16 28515112 28515112 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr16:28515112C>T uc002dqc.2 - 3 230 c.207G>A c.(205-207)GCG>GCA p.A69A uc010vct.1_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN interleukin 27 precursor 69 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding 0 GGTGAGATTCCGCCTGGGGGG 0.632 HEATR3 55027 broad.mit.edu 37 16 50106625 50106625 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr16:50106625G>A uc002efw.2 + 5 784 c.622G>A c.(622-624)GCA>ACA p.A208T HEATR3_uc002efx.2_Missense_Mutation_p.A122T NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 208 binding ovary(1)|skin(1) 2 TATTTCAGTAGGTAAGTGAAG 0.348 RABEP1 9135 broad.mit.edu 37 17 5286437 5286437 + Silent SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr17:5286437G>A uc002gbm.3 + 18 2732 c.2508G>A c.(2506-2508)CGG>CGA p.R836R RABEP1_uc010vsw.1_Silent_p.R793R|RABEP1_uc002gbl.3_Silent_p.R803R|NUP88_uc002gbn.2_Intron NM_004703 NP_004694 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 836 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity large_intestine(1)|ovary(1) 2 AGCGGATCCGGCAAGCTGACT 0.473 MYH13 8735 broad.mit.edu 37 17 10215363 10215363 + Missense_Mutation SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr17:10215363C>T uc002gmk.1 - 32 4486 c.4396G>A c.(4396-4398)GAA>AAA p.E1466K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1466 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GCCTGGCTTTCGTCCAGCTTT 0.517 ATG4D 84971 broad.mit.edu 37 19 10655709 10655709 + Silent SNP T G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr19:10655709T>G uc002mov.2 + 3 516 c.396T>G c.(394-396)CCT>CCG p.P132P ATG4D_uc010xlg.1_Silent_p.P155P|ATG4D_uc010xlh.1_Silent_p.P69P|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_5'UTR NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 132 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CGCCCCTTCCTGGGGGCTGCC 0.632 ZNF208 7757 broad.mit.edu 37 19 22156647 22156647 + Missense_Mutation SNP A G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr19:22156647A>G uc002nqp.2 - 4 1338 c.1189T>C c.(1189-1191)TAC>CAC p.Y397H ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TCACATTTGTAGGGTTTCTCT 0.388 TRPM4 54795 broad.mit.edu 37 19 49671909 49671910 + In_Frame_Ins INS - GCA GCA TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr19:49671909_49671910insGCA uc002pmw.2 + 6 784_785 c.712_713insGCA c.(712-714)GGC>GGCAGC p.238_239insS TRPM4_uc010emu.2_In_Frame_Ins_p.238_239insS|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_In_Frame_Ins_p.64_65insS|TRPM4_uc010emv.2_In_Frame_Ins_p.123_124insS|TRPM4_uc010yal.1_5'UTR NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 238_239 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGTGGACGACGGCACACACGGC 0.658 LENG1 79165 broad.mit.edu 37 19 54660572 54660573 + Frame_Shift_Del DEL TC - - TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr19:54660572_54660573delTC uc002qdm.2 - 3 516_517 c.503_504delGA c.(502-504)AGAfs p.R168fs NM_024316 NP_077292 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 168 ovary(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGCCGTGCTGTCTCTTCTTCCC 0.634 FAM136A 84908 broad.mit.edu 37 2 70524463 70524463 + Missense_Mutation SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr2:70524463C>T uc002sgq.3 - 3 452 c.375G>A c.(373-375)ATG>ATA p.M125I FAM136A_uc010fdp.2_RNA NM_032822 NP_116211 Q96C01 F136A_HUMAN hypothetical protein LOC84908 125 mitochondrion protein binding 0 TCTTCTTGGTCATAGTTGGGA 0.433 NAT8B 51471 broad.mit.edu 37 2 73928290 73928290 + Missense_Mutation SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr2:73928290C>T uc002sjk.1 - 2 178 c.143G>A c.(142-144)GGG>GAG p.G48E NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 48 Helical; (Potential). gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 AAGGGCCCCCCCAAGTAAGAG 0.612 CCDC138 165055 broad.mit.edu 37 2 109410997 109410997 + Silent SNP T C C TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr2:109410997T>C uc002ten.1 + 5 456 c.396T>C c.(394-396)GTT>GTC p.V132V CCDC138_uc002teo.1_Silent_p.V132V|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 132 0 TCTTTGCAGTTGCCTTGCCAA 0.363 POTEF 728378 broad.mit.edu 37 2 130877735 130877735 + Silent SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr2:130877735G>A uc010fmh.2 - 3 754 c.354C>T c.(352-354)GGC>GGT p.G118G NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 118 cell cortex ATP binding skin(3)|ovary(2) 5 CTCCCCAAGCGCCCACCTTGC 0.587 LRP1B 53353 broad.mit.edu 37 2 141986959 141986959 + Nonsense_Mutation SNP C A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr2:141986959C>A uc002tvj.1 - 6 1615 c.643G>T c.(643-645)GAG>TAG p.E215* LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 215 Extracellular (Potential). 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) TAGAAAACCTCAATTGTTTCA 0.284 TSP Lung(27;0.18) PLCL1 5334 broad.mit.edu 37 2 198949321 198949321 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr2:198949321C>T uc010fsp.2 + 2 1371 c.1080C>T c.(1078-1080)TAC>TAT p.Y360Y PLCL1_uc002uuv.3_Silent_p.Y281Y NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 360 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TAAGGAGATACGAACTTTCTG 0.388 NAPB 63908 broad.mit.edu 37 20 23383673 23383673 + Nonsense_Mutation SNP A T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr20:23383673A>T uc002wta.2 - 2 252 c.135T>A c.(133-135)TAT>TAA p.Y45* NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Nonsense_Mutation_p.Y45*|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Nonsense_Mutation_p.Y45* NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 45 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) CAGCTCTGGTATACATTTCAC 0.338 MOCS3 27304 broad.mit.edu 37 20 49576077 49576077 + Missense_Mutation SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr20:49576077C>T uc002xvy.1 + 1 715 c.698C>T c.(697-699)GCG>GTG p.A233V DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 233 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 CCACCCCCAGCGGAGACAGTG 0.622 PRDM15 63977 broad.mit.edu 37 21 43279747 43279747 + Missense_Mutation SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr21:43279747C>T uc002yzq.1 - 9 1096 c.985G>A c.(985-987)GGC>AGC p.G329S PRDM15_uc002yzo.2_Missense_Mutation_p.G66S|PRDM15_uc002yzp.2_Missense_Mutation_p.G66S|PRDM15_uc002yzr.1_Missense_Mutation_p.G66S NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACCACTGGGCCCAGCTCGGGA 0.597 SEC14L3 266629 broad.mit.edu 37 22 30857619 30857619 + Silent SNP G A A rs139964800 byFrequency TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr22:30857619G>A uc003ahy.2 - 10 923 c.834C>T c.(832-834)TAC>TAT p.Y278Y SEC14L3_uc003ahz.2_Silent_p.Y201Y|SEC14L3_uc003aia.2_Silent_p.Y219Y|SEC14L3_uc003aib.2_Silent_p.Y219Y NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 278 GOLD. integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) CCGAGTGCTCGTACTGAGTCT 0.517 SCN5A 6331 broad.mit.edu 37 3 38622444 38622444 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr3:38622444G>A uc003cio.2 - 17 3400 c.3206C>T c.(3205-3207)ACG>ATG p.T1069M SCN5A_uc003cin.2_Missense_Mutation_p.T1069M|SCN5A_uc003cil.3_Missense_Mutation_p.T1069M|SCN5A_uc010hhi.2_Missense_Mutation_p.T1069M|SCN5A_uc010hhk.2_Missense_Mutation_p.T1069M|SCN5A_uc011ayr.1_Missense_Mutation_p.T1069M|SCN5A_uc010hhj.1_Missense_Mutation_p.T680M NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1069 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTCCTCCTCCGTGCCCAGGCT 0.627 ABI3BP 25890 broad.mit.edu 37 3 100645260 100645260 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr3:100645260G>A uc003dun.2 - 2 251 c.166C>T c.(166-168)CGT>TGT p.R56C ABI3BP_uc003duo.2_Missense_Mutation_p.R49C|ABI3BP_uc003dup.3_Missense_Mutation_p.R49C NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 56 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GGACTTGGACGCAAGAACTTC 0.448 ZPLD1 131368 broad.mit.edu 37 3 102157373 102157373 + Silent SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr3:102157373G>A uc003dvs.1 + 9 924 c.42G>A c.(40-42)GTG>GTA p.V14V ZPLD1_uc003dvt.1_Silent_p.V30V|ZPLD1_uc011bhg.1_Silent_p.V14V NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 14 integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 CAATTAGAGTGCTTCCGGGGT 0.433 CCDC37 348807 broad.mit.edu 37 3 126153142 126153142 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr3:126153142G>A uc003eiu.1 + 15 1645 c.1546G>A c.(1546-1548)GAG>AAG p.E516K CCDC37_uc010hsg.1_Missense_Mutation_p.E517K NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 516 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) CCAGCTGGATGAGCTGCTAGA 0.622 B3GALNT1 8706 broad.mit.edu 37 3 160804500 160804500 + Missense_Mutation SNP G C C TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr3:160804500G>C uc003fdv.2 - 5 462 c.43C>G c.(43-45)CTG>GTG p.L15V B3GALNT1_uc003fdw.2_Missense_Mutation_p.L15V|B3GALNT1_uc003fdx.2_Missense_Mutation_p.L15V|B3GALNT1_uc003fdy.2_Missense_Mutation_p.L15V|B3GALNT1_uc003fdz.2_Missense_Mutation_p.L15V|B3GALNT1_uc003fea.2_Missense_Mutation_p.L15V|B3GALNT1_uc011bpa.1_Missense_Mutation_p.L15V NM_033169 NP_149359 O75752 B3GL1_HUMAN UDP-Gal:betaGlcNAc beta 15 Cytoplasmic (Potential). protein glycosylation Golgi membrane|integral to membrane galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity skin(1) 1 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) AGGGATCTCAGTGACATCCTA 0.527 ZNF391 346157 broad.mit.edu 37 6 27368167 27368167 + Silent SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr6:27368167G>A uc003njf.1 + 3 536 c.18G>A c.(16-18)GGG>GGA p.G6G NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 GCCTCAGAGGGAATACTGCTC 0.423 CCHCR1 54535 broad.mit.edu 37 6 31124628 31124628 + Missense_Mutation SNP A G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr6:31124628A>G uc003nsr.3 - 3 233 c.110T>C c.(109-111)CTG>CCG p.L37P CCHCR1_uc011dne.1_Missense_Mutation_p.L37P|CCHCR1_uc003nsq.3_Intron|CCHCR1_uc003nsp.3_Missense_Mutation_p.L126P|CCHCR1_uc010jsk.1_Missense_Mutation_p.L37P|TCF19_uc003nss.2_5'Flank|TCF19_uc003nst.2_5'Flank NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 37 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 GGGTTGGACCAGGGGAATGTC 0.577 TREML2 79865 broad.mit.edu 37 6 41166083 41166083 + Missense_Mutation SNP T C C TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr6:41166083T>C uc010jxm.1 - 2 319 c.140A>G c.(139-141)AAA>AGA p.K47R NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 47 Ig-like V-type.|Extracellular (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) CACGCGGTTTTTGTAGCCCTT 0.537 C6orf138 442213 broad.mit.edu 37 6 47846894 47846894 + Silent SNP G A A rs147985171 byFrequency TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr6:47846894G>A uc011dwm.1 - 3 1720 c.1635C>T c.(1633-1635)AAC>AAT p.N545N C6orf138_uc011dwn.1_Silent_p.N309N NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 562 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TGGCACTGACGTTGCTGACTT 0.443 SGK1 6446 broad.mit.edu 37 6 134493394 134493394 + Silent SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr6:134493394G>A uc003qen.3 - 8 812 c.723C>T c.(721-723)TTC>TTT p.F241F SGK1_uc003qeo.3_Silent_p.F336F|SGK1_uc011ect.1_Silent_p.F231F|SGK1_uc011ecu.1_Silent_p.F197F|SGK1_uc011ecv.1_Silent_p.F255F|SGK1_uc011ecw.1_Silent_p.F269F NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 241 Protein kinase. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TGCAGAGTCCGAAGTCAGTAA 0.448 KBTBD2 25948 broad.mit.edu 37 7 32909459 32909459 + Missense_Mutation SNP G T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:32909459G>T uc003tdb.2 - 4 2029 c.1370C>A c.(1369-1371)ACT>AAT p.T457N AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 457 Kelch 3. 0 GBM - Glioblastoma multiforme(11;0.0499) GGACCTACTAGTCTGTCTCAT 0.438 IKZF1 10320 broad.mit.edu 37 7 50467932 50467932 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:50467932C>T uc003tow.3 + 9 1335 c.1167C>T c.(1165-1167)TCC>TCT p.S389S IKZF1_uc003tox.3_Silent_p.S347S|IKZF1_uc003toy.3_Silent_p.S347S|IKZF1_uc011kck.1_Silent_p.S302S|IKZF1_uc003toz.3_Silent_p.S359S|IKZF1_uc010kyx.2_Silent_p.S129S|IKZF1_uc003tpa.3_Silent_p.S131S NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 389 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCGAGGCGTCCCCGAGCAACA 0.672 D ALL EGFR 1956 broad.mit.edu 37 7 55221821 55221821 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:55221821G>A uc003tqk.2 + 7 1111 c.865G>A c.(865-867)GCC>ACC p.A289T EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTTTGGTGCCACCTGCGT 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) SEMA3C 10512 broad.mit.edu 37 7 80387708 80387708 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:80387708G>A uc003uhj.2 - 15 2144 c.1582C>T c.(1582-1584)CGG>TGG p.R528W SEMA3C_uc011kgw.1_Missense_Mutation_p.R546W NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 528 immune response|response to drug membrane receptor activity ovary(1) 1 TAAGGGTCCCGCGCCAGGCAG 0.527 NPTX2 4885 broad.mit.edu 37 7 98257875 98257875 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:98257875C>T uc003upl.2 + 5 1407 c.1230C>T c.(1228-1230)GTC>GTT p.V410V NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 410 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ACAATAACGTCGATGTGTTCG 0.582 C7orf51 222950 broad.mit.edu 37 7 100085924 100085924 + Missense_Mutation SNP C A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:100085924C>A uc003uvd.1 + 4 739 c.580C>A c.(580-582)CAG>AAG p.Q194K C7orf51_uc003uve.1_5'UTR NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 194 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCTGCCTCTTCAGCGCCTCAC 0.637 MUC17 140453 broad.mit.edu 37 7 100678887 100678887 + Missense_Mutation SNP C T T rs141608296 TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:100678887C>T uc003uxp.1 + 3 4243 c.4190C>T c.(4189-4191)CCG>CTG p.P1397L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1397 Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GGAACCACTCCGTTAACAAGT 0.507 FIS1 51024 broad.mit.edu 37 7 100887381 100887381 + Missense_Mutation SNP A T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:100887381A>T uc003uyj.3 - 2 171 c.85T>A c.(85-87)TCG>ACG p.S29T FIS1_uc010lht.2_RNA|FIS1_uc010lhu.2_Intron NM_016068 NP_057152 Q9Y3D6 FIS1_HUMAN tetratricopeptide repeat domain 11 29 Cytoplasmic (Potential). apoptosis|mitochondrial fission|peroxisome fission integral to mitochondrial outer membrane|integral to peroxisomal membrane protein binding 0 Lung NSC(181;0.168)|all_lung(186;0.215) TTGGACACCGAGCCTGCTGCC 0.512 OREG0018218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DUS4L 11062 broad.mit.edu 37 7 107214222 107214222 + Missense_Mutation SNP T G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:107214222T>G uc003veh.2 + 5 645 c.312T>G c.(310-312)TGT>TGG p.C104W DUS4L_uc003veg.2_Intron|DUS4L_uc011klw.1_Intron|DUS4L_uc011klx.1_5'UTR|DUS4L_uc010ljl.2_5'Flank NM_181581 NP_853559 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like 104 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 GTATAGTCTGTCCTTATGCGA 0.383 LOC407835 407835 broad.mit.edu 37 7 128766784 128766784 + Silent SNP C T T TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr7:128766784C>T uc003voo.2 + 1 460 c.213C>T c.(211-213)TTC>TTT p.F71F NR_002144 SubName: Full=cDNA FLJ35806 fis, clone TESTI2005987, highly similar to Dual specificity mitogen-activated protein kinase kinase 2 (EC 2.7.12.2); SubName: Full=Mitogen-activated protein kinase kinase 2, isoform CRA_d; 0 ACGATGACTTCGAAAGGACCT 0.587 RHOBTB2 23221 broad.mit.edu 37 8 22864290 22864290 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr8:22864290G>A uc003xcq.2 + 5 1069 c.532G>A c.(532-534)GCC>ACC p.A178T RHOBTB2_uc003xcp.2_Missense_Mutation_p.A200T|RHOBTB2_uc011kzp.1_Missense_Mutation_p.A185T|uc003xcr.2_RNA NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 178 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TCGGGAGGTGGCCAAGGAGCT 0.577 TEX15 56154 broad.mit.edu 37 8 30699744 30699744 + Missense_Mutation SNP T C C TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr8:30699744T>C uc003xil.2 - 1 6790 c.6790A>G c.(6790-6792)AAG>GAG p.K2264E NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2264 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGTAAAATCTTCCTTCTGTTA 0.313 TMEM67 91147 broad.mit.edu 37 8 94767177 94767178 + Frame_Shift_Ins INS - G G TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr8:94767177_94767178insG uc011lgk.1 + 1 106_107 c.35_36insG c.(34-36)GCGfs p.A12fs TMEM67_uc010mau.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mav.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc003yga.3_Intron NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 12 Helical; (Potential). cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GTGGCAATGGCGGTTTGGTCCC 0.653 PLEC 5339 broad.mit.edu 37 8 144993481 144993481 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr8:144993481G>A uc003zaf.1 - 32 11089 c.10919C>T c.(10918-10920)GCG>GTG p.A3640V PLEC_uc003zab.1_Missense_Mutation_p.A3503V|PLEC_uc003zac.1_Missense_Mutation_p.A3507V|PLEC_uc003zad.2_Missense_Mutation_p.A3503V|PLEC_uc003zae.1_Missense_Mutation_p.A3471V|PLEC_uc003zag.1_Missense_Mutation_p.A3481V|PLEC_uc003zah.2_Missense_Mutation_p.A3489V|PLEC_uc003zaj.2_Missense_Mutation_p.A3530V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3640 Globular 2.|Plectin 16. 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 GCTGGGGTCCGCCAGGACGCG 0.662 CDKN2A 1029 broad.mit.edu 37 9 21971124 21971125 + Frame_Shift_Del DEL GA - - TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chr9:21971124_21971125delGA uc003zpk.2 - 2 445_446 c.233_234delTC c.(232-234)CTCfs p.L78fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.S133fs NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 78 ANK 3. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.L78fs*41(17)|p.?(13)|p.E61_L94del(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.L65fs*38(1)|p.L78fs*67(1)|p.A68fs*3(1)|p.L78H(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGGGTCGGGTGAGAGTGGCGGG 0.723 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) MAGEB6 158809 broad.mit.edu 37 X 26212711 26212711 + Missense_Mutation SNP G A A TCGA-06-2557-01A-01D-1494-08 TCGA-06-2557-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c27290e4-6835-448a-abdc-df8ddd5f4630 7113eb4c-ea48-40a8-b75f-ed5df7b04ff0 g.chrX:26212711G>A uc004dbr.2 + 2 897 c.748G>A c.(748-750)GTT>ATT p.V250I MAGEB6_uc010ngc.1_Missense_Mutation_p.V30I NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 250 MAGE. ovary(3) 3 GGCCTTTGGCGTTGAATTGAA 0.517