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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut EPPK1 83481 broad.mit.edu 37 8 144944117 144944117 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:144944117C>A ENST00000525985.1 - 2 3376 c.3305G>T c.(3304-3306)tGc>tTc p.C1102F P58107 EPIPL_HUMAN epiplakin 1 1102 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATCCCTGGGGCACTCCTCCAG 0.657000 12 19 2.27111e-07 2.75109e-07 0.013537 1 0 EPCAM 4072 broad.mit.edu 37 2 47602414 47602414 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:47602414C>A ENST00000263735.4 + 4 825 c.467C>A c.(466-468)cCt>cAt p.P156H EPCAM_ENST00000405271.1_Missense_Mutation_p.P184H NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 156 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 AGAGAAAAACCTTATGATAGT 0.348000 15 56 3.51602e-12 4.49056e-12 0.049695 1 0 LRRC42 115353 broad.mit.edu 37 1 54417937 54417937 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:54417937C>T ENST00000371370.3 + 3 786 c.265C>T c.(265-267)Ctc>Ttc p.L89F LRRC42_ENST00000319223.4_Missense_Mutation_p.L89F NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 89 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 CGCCAAATCCCTCTTCAGCCT 0.483000 13 168 0 0 0.016723 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728598 20728598 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:20728598C>G ENST00000427401.4 - 4 505 c.411G>C c.(409-411)ttG>ttC p.L137F NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 137 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GAGTAGTTGTCAAATATTGGT 0.299000 8 47 0 0 0.038147 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803488 185803488 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:185803488T>A ENST00000302277.6 + 4 3959 c.3365T>A c.(3364-3366)tTt>tAt p.F1122Y NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1122 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 gcagGAACCTTTAAAGTGCTT 0.522000 7 70 0 0 0.069234 0 0 PRKCB 5579 broad.mit.edu 37 16 24192240 24192240 + Silent SNP C C A rs17847876 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:24192240C>A ENST00000303531.7 + 13 1676 c.1524C>A c.(1522-1524)atC>atA p.I508I PRKCB_ENST00000321728.7_Silent_p.I508I NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 508 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.I508I(2) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CAGACTACATCGCCCCCGAGG 0.542000 15 130 7.93312e-07 9.46337e-07 0.020292 1 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 5 57 0 0 0.014758 0 0 CAPN9 10753 broad.mit.edu 37 1 230898463 230898463 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:230898463G>A ENST00000354537.1 + 4 549 c.467G>A c.(466-468)cGc>cAc p.R156H RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.R93H|CAPN9_ENST00000271971.2_Missense_Mutation_p.R156H NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 156 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) TTCAGGGACCGCTTGGTTTTC 0.577000 28 87 0 0 0.030593 0 0 NUP98 4928 broad.mit.edu 37 11 3716751 3716751 + Nonsense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:3716751C>T ENST00000324932.7 - 26 4515 c.4095G>A c.(4093-4095)tgG>tgA p.W1365* NUP98_ENST00000359171.4_Nonsense_Mutation_p.W1365*|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Nonsense_Mutation_p.W1365* NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1382 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GGAGCTGATGCCAGTCCACCA 0.483000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 4 187 0 0 0.009096 0 0 RWDD2B 10069 broad.mit.edu 37 21 30380094 30380094 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr21:30380094T>A ENST00000493196.1 - 4 813 c.713A>T c.(712-714)gAa>gTa p.E238V RWDD2B_ENST00000486719.1_5'UTR NM_016940.2 NP_058636.1 P57060 RWD2B_HUMAN RWD domain containing 2B 238 endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 TGACCAGAATTCTTCACAGGC 0.413000 37 96 0 0 0.092188 0 0 USP53 54532 broad.mit.edu 37 4 120190943 120190943 + Silent SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:120190943A>G ENST00000450251.1 + 11 1930 c.1386A>G c.(1384-1386)caA>caG p.Q462Q USP53_ENST00000274030.6_Silent_p.Q462Q Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 462 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 TTTCTTCACAAAGGAAAGATT 0.318000 9 163 0 0 0.047766 0 0 RHOQ 23433 broad.mit.edu 37 2 46803235 46803235 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:46803235G>A ENST00000238738.4 + 3 530 c.211G>A c.(211-213)Gac>Aac p.D71N RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR NM_012249.3 NP_036381.2 P17081 RHOQ_HUMAN ras homolog family member Q 71 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GGAAGACTATGACCGTCTGAG 0.373000 11 113 0 0 0.069234 0 0 ACTG2 72 broad.mit.edu 37 2 74129609 74129609 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:74129609G>A ENST00000409624.1 + 4 892 c.249G>A c.(247-249)atG>atA p.M83I ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Missense_Mutation_p.M83I|ACTG2_ENST00000409918.1_Missense_Mutation_p.M83I P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 83 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 GGGATGACATGGAGAAGGTAT 0.488000 11 61 0 0 0.069234 0 0 ERN1 2081 broad.mit.edu 37 17 62144284 62144284 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:62144284G>C ENST00000433197.2 - 8 684 c.589C>G c.(589-591)Cac>Gac p.H197D NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 197 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GACACAAAGTGGGACATCTCT 0.502000 3 39 0 0 0.009096 0 0 ADARB2 105 broad.mit.edu 37 10 1405308 1405308 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:1405308G>A ENST00000381312.1 - 3 1317 c.992C>T c.(991-993)gCc>gTc p.A331V NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 331 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GGCCTGCGCGGCCTGACCCCG 0.751000 3 21 0 0 0.009096 0 0 KIFC1 3833 broad.mit.edu 37 6 33371721 33371721 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:33371721C>T ENST00000428849.2 + 6 1021 c.571C>T c.(571-573)Cat>Tat p.H191Y NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 191 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 ACTGGAGGGGCATTTAGCCAA 0.597000 43 170 0 0 0.042209 0 0 LIFR 3977 broad.mit.edu 37 5 38510706 38510706 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:38510706T>C ENST00000263409.4 - 7 1013 c.851A>G c.(850-852)cAt>cGt p.H284R LIFR_ENST00000453190.2_Missense_Mutation_p.H284R|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 284 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GCAGTTTGTATGGCCAATCAG 0.368000 T PLAG1 salivary adenoma 6 117 0 0 0.029380 0 0 ZNF772 400720 broad.mit.edu 37 19 57985605 57985605 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:57985605C>T ENST00000343280.4 - 5 767 c.507G>A c.(505-507)caG>caA p.Q169Q ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Silent_p.Q128Q|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Silent_p.Q57Q NM_001024596.2 NP_001019767.1 Q68DY9 ZN772_HUMAN zinc finger protein 772 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3) 9 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) TGTATGGTTTCTGCCCTGGGT 0.507000 12 176 0 0 0.016723 0 0 CCDC172 374355 broad.mit.edu 37 10 118100359 118100359 + Silent SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:118100359C>A ENST00000333254.3 + 4 530 c.279C>A c.(277-279)acC>acA p.T93T CCDC172_ENST00000497093.1_3'UTR NM_198515.2 NP_940917.1 coiled-coil domain containing 172 TTCTTCAAACCTTTGTAAGTT 0.284000 11 118 0.00010058 0.000114185 0.013537 1 0 RASGRP3 25780 broad.mit.edu 37 2 33784037 33784037 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:33784037C>T ENST00000403687.3 + 17 2744 c.2004C>T c.(2002-2004)gaC>gaT p.D668D AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.D668D|RASGRP3_ENST00000407811.1_Silent_p.D667D NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 668 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) ATGTTGTAGACCGGGGCACGG 0.483000 9 36 0 0 0.058154 0 0 OR52E2 119678 broad.mit.edu 37 11 5080058 5080058 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:5080058C>T ENST00000321522.2 - 1 799 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGGCACATTTCGGCCAAAGCG 0.478000 4 101 0 0 0.029380 0 0 ZNF708 7562 broad.mit.edu 37 19 21476689 21476689 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:21476689T>C ENST00000356929.3 - 4 1276 c.1079A>G c.(1078-1080)gAa>gGa p.E360G NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 GGGTTTCTCTTCAGTATGAAT 0.363000 5 139 0 0 0.021553 0 0 CAMTA1 23261 broad.mit.edu 37 1 7805922 7805922 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:7805922C>G ENST00000303635.7 + 18 4595 c.4388C>G c.(4387-4389)cCt>cGt p.P1463R CAMTA1_ENST00000439411.2_Intron|CAMTA1_ENST00000476864.1_Missense_Mutation_p.P27R NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1463 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TATAACGAGCCTCTAACCCCT 0.458000 T WWTR1 epitheliod hemangioendothelioma 40 247 0 0 0.092188 0 0 CDRT1 374286 broad.mit.edu 37 17 15522822 15522822 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:15522822T>C ENST00000395906.3 - 1 4 c.5A>G c.(4-6)gAa>gGa p.E2G RP11-385D13.1_ENST00000455584.2_Intron NM_006382.3 NP_006373.2 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 2 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) TTCCAGGTTTTCCATGATCCT 0.498000 10 486 0 0 0.080935 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168489 25168489 + RNA SNP G G A rs142860004 by1000genomes TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TGAAAGTGCAGTTTTTCTCTT 0.363000 3 50 0 0 0.004672 0 0 NARS2 79731 broad.mit.edu 37 11 78176976 78176976 + Silent SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:78176976T>C ENST00000281038.5 - 11 1485 c.1110A>G c.(1108-1110)ccA>ccG p.P370P NARS2_ENST00000528850.1_Silent_p.P143P NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 370 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) TGAGTGTTAATGGATAATTAA 0.428000 10 120 0 0 0.069234 0 0 DST 667 broad.mit.edu 37 6 56480608 56480608 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:56480608T>C ENST00000370765.6 - 24 7764 c.7657A>G c.(7657-7659)Atc>Gtc p.I2553V DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1849 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAACATCGGATTCCCATTTCC 0.403000 35 194 0 0 0.069456 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344239 38344239 + Missense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:38344239A>T ENST00000374618.3 + 5 1365 c.1187A>T c.(1186-1188)cAt>cTt p.H396L ZNF33A_ENST00000307441.9_Missense_Mutation_p.H395L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H395L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H402L|ZNF33A_ENST00000469037.2_Intron NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 395 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GCCTTTAGCCATAAGTCAGCC 0.423000 11 138 0 0 0.080935 0 0 MS4A6A 64231 broad.mit.edu 37 11 59943062 59943062 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:59943062C>T ENST00000528851.1 - 5 502 c.362G>A c.(361-363)aGc>aAc p.S121N MS4A6A_ENST00000420732.2_Missense_Mutation_p.S121N|MS4A6A_ENST00000529054.1_Missense_Mutation_p.S149N|MS4A6A_ENST00000426738.2_Missense_Mutation_p.S76N|MS4A6A_ENST00000530839.1_Missense_Mutation_p.S121N|MS4A6A_ENST00000533023.1_Missense_Mutation_p.S57N|MS4A6A_ENST00000323961.3_Missense_Mutation_p.S121N|MS4A6A_ENST00000412309.2_Missense_Mutation_p.S149N Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 121 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACTCAGAATGCTTCCAACCAG 0.438000 35 84 0 0 0.074837 0 0 RHBDF1 64285 broad.mit.edu 37 16 110495 110495 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:110495C>T ENST00000262316.6 - 12 1742 c.1600G>A c.(1600-1602)Gcc>Acc p.A534T NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 534 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) AGCTCTGGGGCGCTGGGATGG 0.632000 11 113 0 0 0.016723 0 0 ENOX1 55068 broad.mit.edu 37 13 43918857 43918857 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:43918857C>T ENST00000261488.6 - 9 1430 c.853G>A c.(853-855)Gtg>Atg p.V285M ENOX1_ENST00000412891.1_Missense_Mutation_p.V285M|ENOX1_ENST00000540032.1_Missense_Mutation_p.V98M NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 285 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GAAAGCAGCACTGTGATAGCC 0.468000 8 85 0 0 0.038147 0 0 RCC1 1104 broad.mit.edu 37 1 28862414 28862414 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:28862414G>A ENST00000373833.6 + 10 978 c.693G>A c.(691-693)ctG>ctA p.L231L RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Silent_p.L262L|RCC1_ENST00000373832.1_Silent_p.L231L|RCC1_ENST00000398958.2_Silent_p.L231L P18754 RCC1_HUMAN regulator of chromosome condensation 1 231 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GTGTGATGCTGAAATCCAGGG 0.562000 24 261 0 0 0.034045 0 0 GABRA6 2559 broad.mit.edu 37 5 161116008 161116008 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:161116008G>A ENST00000523217.1 + 4 491 c.249G>A c.(247-249)aaG>aaA p.K83K GABRA6_ENST00000274545.5_Silent_p.K93K|RP11-348M17.2_ENST00000521984.1_RNA NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 93 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGAGGTTGAAGTTTGGGGGGC 0.408000 TCGA Ovarian(5;0.080) 15 190 0 0 0.038395 0 0 SLAMF8 56833 broad.mit.edu 37 1 159802746 159802746 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:159802746T>A ENST00000289707.5 + 3 597 c.448T>A c.(448-450)Ttg>Atg p.L150M SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.L41M NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 150 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) CCAGGTTTTCTTGTCCTGTTG 0.532000 15 148 0 0 0.024245 0 0 RASGRF1 5923 broad.mit.edu 37 15 79254558 79254558 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:79254558G>T ENST00000419573.3 - 28 4024 c.3750C>A c.(3748-3750)gaC>gaA p.D1250E RASGRF1_ENST00000558480.2_Missense_Mutation_p.D1234E|RASGRF1_ENST00000394745.3_Missense_Mutation_p.D466E NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1252 Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CAAAAGATTGGTCCAGTAAAT 0.463000 5 21 1.06961e-07 1.30238e-07 0.038147 1 0 COL1A2 1278 broad.mit.edu 37 7 94038715 94038715 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:94038715G>A ENST00000297268.6 + 17 1345 c.874G>A c.(874-876)Ggc>Agc p.G292S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 292 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGGCCTCTCCGGCCCCGTTGG 0.498000 HNSCC(75;0.22) 7 103 0 0 0.020292 0 0 INTS5 80789 broad.mit.edu 37 11 62415548 62415548 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:62415548G>A ENST00000330574.2 - 2 2056 c.2004C>T c.(2002-2004)gcC>gcT p.A668A NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 668 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GACAGGCTGAGGCCACACCTG 0.612000 4 71 0 0 0.009096 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151089868 151089868 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:151089868T>G ENST00000367328.1 + 4 818 c.506T>G c.(505-507)tTc>tGc p.F169C PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F169C NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 169 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ATCTACCACTTCAATAGGTAA 0.393000 7 46 0 0 0.029380 0 0 SULT1E1 6783 broad.mit.edu 37 4 70713474 70713474 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:70713474C>G ENST00000226444.3 - 6 645 c.533G>C c.(532-534)tGg>tCg p.W178S NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 178 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CTTTTCCCACCAAGATTTTAC 0.373000 50 129 0 0 0.048971 0 0 TMIGD2 126259 broad.mit.edu 37 19 4292705 4292705 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:4292705C>A ENST00000301272.2 - 5 785 c.740G>T c.(739-741)tGc>tTc p.C247F TMIGD2_ENST00000595645.1_Missense_Mutation_p.C243F|TMIGD2_ENST00000600349.1_Missense_Mutation_p.C75F|TMIGD2_ENST00000600114.1_Missense_Mutation_p.C127F NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 247 Pro-rich. integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) ggggctggggcagggtctcgg 0.672000 7 88 0.00307968 0.00336616 0.038147 1 0 WNK1 65125 broad.mit.edu 37 12 1009828 1009828 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:1009828C>A ENST00000537687.1 + 26 8058 c.7415C>A c.(7414-7416)cCa>cAa p.P2472Q WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P2212Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2212 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity p.P2212Q(1)|p.P2472Q(1) breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTTTCTGCTCCAGGTCAAGGT 0.473000 7 530 0.000157383 0.000177813 0.038147 1 0 UBAP2L 9898 broad.mit.edu 37 1 154199771 154199771 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:154199771A>C ENST00000428931.1 + 3 271 c.104A>C c.(103-105)cAa>cCa p.Q35P UBAP2L_ENST00000271877.7_Missense_Mutation_p.Q35P|UBAP2L_ENST00000343815.6_Missense_Mutation_p.Q35P|UBAP2L_ENST00000361546.2_Missense_Mutation_p.Q35P NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 35 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACTGCAGAACAAATTAGACTT 0.418000 17 187 0 0 0.033300 0 0 BST1 683 broad.mit.edu 37 4 15716972 15716972 + Missense_Mutation SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:15716972A>G ENST00000382346.3 + 6 693 c.644A>G c.(643-645)tAt>tGt p.Y215C BST1_ENST00000265016.4_Missense_Mutation_p.Y200C Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 200 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 ACAGGAGCCTATCCCATCAAA 0.368000 13 76 0 0 0.020292 0 0 MAN2A1 4124 broad.mit.edu 37 5 109153015 109153015 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:109153015C>T ENST00000261483.4 + 13 3037 c.1985C>T c.(1984-1986)tCg>tTg p.S662L NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 662 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GACCGAATCTCGTTGGTCTCA 0.413000 15 183 0 0 0.028581 0 0 PRR23A 729627 broad.mit.edu 37 3 138724783 138724783 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:138724783C>T ENST00000383163.2 - 1 327 c.328G>A c.(328-330)Gaa>Aaa p.E110K MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 110 endometrium(3)|kidney(1)|lung(7) 11 CCTGAGCGTTCGTCGACAGAG 0.617000 6 42 0 0 0.021553 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120563 38120563 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr22:38120563T>C ENST00000406386.3 + 7 2255 c.2000T>C c.(1999-2001)aTc>aCc p.I667T RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 667 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AACAGAACCATCCAACAAGAG 0.572000 3 96 0 0 0.004672 0 0 BCL10 8915 broad.mit.edu 37 1 85733597 85733597 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:85733597C>T ENST00000370580.1 - 3 1152 c.415G>A c.(415-417)Gat>Aat p.D139N NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 139 apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) TTACTCTCATCTGAATTTGAT 0.388000 T IGH@ MALT 28 184 0 0 0.050027 0 0 AES 166 broad.mit.edu 37 19 3055690 3055690 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:3055690G>C ENST00000221561.8 - 5 649 c.470C>G c.(469-471)gCc>gGc p.A157G AES_ENST00000586839.1_Missense_Mutation_p.A34G|AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Missense_Mutation_p.A90G NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 90 Gly/Pro-rich (GP domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGACCTGGGCACAAATCCC 0.637000 9 114 0 0 0.013537 0 0 GRN 2896 broad.mit.edu 37 17 42428419 42428419 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:42428419C>T ENST00000053867.3 + 8 785 c.723C>T c.(721-723)tcC>tcT p.S241S GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Intron NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 241 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCTGCTGCTCCGATCACCTGC 0.607000 OREG0024459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 116 0 0 0.029380 0 0 TJP3 27134 broad.mit.edu 37 19 3735583 3735583 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:3735583C>T ENST00000541714.2 + 9 1468 c.1006C>T c.(1006-1008)Cgg>Tgg p.R336W TJP3_ENST00000382008.3_Missense_Mutation_p.R350W|TJP3_ENST00000589378.1_Missense_Mutation_p.R345W|TJP3_ENST00000587686.1_Missense_Mutation_p.R355W|TJP3_ENST00000262968.9_Missense_Mutation_p.R369W|TJP3_ENST00000539908.2_Missense_Mutation_p.R300W NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 350 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGCTTCGGCGGGAAAGTTC 0.552000 21 206 0 0 0.091800 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28958801 28958801 + RNA SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:28958801A>T ENST00000412831.1 + 0 29 SMURF2P1_ENST00000578265.1_RNA GGAATCCAGAAGGAGCATTCA 0.458000 17 198 0 0 0.043863 0 0 LRP1B 53353 broad.mit.edu 37 2 141081587 141081587 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:141081587C>T ENST00000389484.3 - 81 13360 c.12389G>A c.(12388-12390)gGa>gAa p.G4130E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4130 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 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) AGGTCCTGCTCCATATATATA 0.299000 TSP Lung(27;0.18) 8 150 0 0 0.038147 0 0 NCEH1 57552 broad.mit.edu 37 3 172365794 172365794 + Silent SNP G G C rs141870427 byFrequency TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:172365794G>C ENST00000475381.1 - 2 482 c.249C>G c.(247-249)acC>acG p.T83T NCEH1_ENST00000538775.1_Silent_p.T115T|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Silent_p.T115T Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 83 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 AGTCTGTGTCGGTCACCTTCA 0.512000 4 124 0 0 0.014758 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8436298 8436298 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:8436298C>A ENST00000301455.2 + 6 1102 c.931C>A c.(931-933)Cag>Aag p.Q311K ANGPTL4_ENST00000541807.1_Missense_Mutation_p.Q144K|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.Q273K NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 311 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 CGTGGCCGGCCAGCTGGGCGC 0.672000 6 55 8.12818e-05 9.27244e-05 0.029380 1 0 MTHFS 10588 broad.mit.edu 37 15 80181668 80181668 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:80181668G>A ENST00000258874.3 - 2 206 c.146C>T c.(145-147)tCc>tTc p.S49F ST20-MTHFS_ENST00000494999.1_5'UTR|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.S25F NM_006441.3 NP_006432.1 P49914 MTHFS_HUMAN 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 49 folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process cytosol|Golgi apparatus|plasma membrane 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding endometrium(3)|large_intestine(1)|liver(1) 5 all cancers(203;0.00467) AATTCTTTTGGACTTTTGATA 0.378000 8 179 0 0 0.058154 0 0 SIAH1 6477 broad.mit.edu 37 16 48399363 48399363 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:48399363G>A ENST00000356721.3 - 1 449 c.26C>T c.(25-27)tCt>tTt p.S9F SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000394725.2_Intron NM_001006610.1 NP_001006611.1 Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 0 axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) GGAGTACAGAGAAGGTGGAGT 0.517000 13 38 0 0 0.024245 0 0 SEBOX 645832 broad.mit.edu 37 17 26691847 26691847 + Nonsense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:26691847C>T ENST00000536498.1 - 9 1634 c.237G>A c.(235-237)tgG>tgA p.W79* SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000431468.1_Nonsense_Mutation_p.W80*|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000438614.1_Nonsense_Mutation_p.W79*|TMEM199_ENST00000509083.1_Intron Q9HB31 SEBOX_HUMAN SEBOX homeobox 80 cell differentiation|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(1)|skin(1) 5 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GGCAAGTGACCCAGGCCAGGT 0.607000 4 53 0 0 0.009096 0 0 CSHL1 1444 broad.mit.edu 37 17 61987866 61987866 + Translation_Start_Site SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:61987866A>C ENST00000450719.3 - 0 175 CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_Missense_Mutation_p.I143M|CSHL1_ENST00000309894.5_Missense_Mutation_p.S74A|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000346606.6_De_novo_Start_OutOfFrame|CSHL1_ENST00000259003.10_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 TGCAGGAATGAATACTTCTGT 0.507000 15 248 0 0 0.038395 0 0 ENTPD6 955 broad.mit.edu 37 20 25205950 25205950 + Nonsense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:25205950G>T ENST00000433259.2 + 13 1420 c.1294G>T c.(1294-1296)Gaa>Taa p.E432* ENTPD6_ENST00000376652.4_Silent_p.L451L|ENTPD6_ENST00000360031.2_Silent_p.L450L|ENTPD6_ENST00000354989.5_Silent_p.L434L|ENTPD6_ENST00000485936.1_3'UTR O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 86 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 GCAAAGTGCTGAAGGTAAGGG 0.612000 9 41 0.000673444 0.000746506 0.069234 1 0 PLAA 9373 broad.mit.edu 37 9 26913936 26913936 + Missense_Mutation SNP C C A rs150012469 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr9:26913936C>A ENST00000397292.3 - 11 1913 c.1496G>T c.(1495-1497)cGt>cTt p.R499L PLAA_ENST00000520884.1_Missense_Mutation_p.R499L NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 499 phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) TGGTACATAACGACCAGCACC 0.353000 10 116 0.010729 0.0115129 0.080935 1 0 DHX36 170506 broad.mit.edu 37 3 154022955 154022955 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:154022955C>T ENST00000496811.1 - 7 976 c.896G>A c.(895-897)cGg>cAg p.R299Q DHX36_ENST00000329463.5_Missense_Mutation_p.R299Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R299Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R299Q NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 299 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CCTTGGCAACCGACTGTGAAT 0.353000 4 79 0 0 0.009096 0 0 DNAJB1 3337 broad.mit.edu 37 19 14627517 14627517 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:14627517T>C ENST00000254322.2 - 2 623 c.553A>G c.(553-555)Atc>Gtc p.I185V DNAJB1_ENST00000396969.4_Missense_Mutation_p.I85V NM_006145.1 NP_006136.1 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 185 chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(1328;0.0476) TTGTGGGAGATTTTCATCTTC 0.502000 30 341 0 0 0.054565 0 0 KIF16B 55614 broad.mit.edu 37 20 16359952 16359952 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:16359952C>T ENST00000354981.2 - 19 2852 c.2695G>A c.(2695-2697)Gag>Aag p.E899K KIF16B_ENST00000378003.2_Missense_Mutation_p.E125K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E899K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E899K NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 899 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 AGCCTGTACTCCACTGGCTTT 0.413000 16 217 0 0 0.028581 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168501 25168501 + RNA SNP G G A rs4770716 by1000genomes TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:25168501G>A ENST00000453498.1 + 0 1173 TTTTCTCTTCGGTGAGTAATC 0.388000 3 50 0 0 0.004672 0 0 AKAP9 10142 broad.mit.edu 37 7 91730273 91730273 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:91730273A>C ENST00000359028.2 + 45 11237 c.11012A>C c.(11011-11013)aAa>aCa p.K3671T AKAP9_ENST00000358100.2_Missense_Mutation_p.K3617T|AKAP9_ENST00000356239.3_Missense_Mutation_p.K3667T Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3671 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAATCTTTGAAAAGGGCAGAG 0.388000 T BRAF papillary thyroid 18 98 0 0 0.049695 0 0 BLZF1 8548 broad.mit.edu 37 1 169349768 169349768 + Missense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:169349768A>T ENST00000367808.3 + 5 1141 c.718A>T c.(718-720)Aac>Tac p.N240Y BLZF1_ENST00000329281.2_Missense_Mutation_p.N240Y Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 240 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) ACAGCGTCAAAACCGTGATGC 0.393000 7 106 0 0 0.029380 0 0 SEC14L3 266629 broad.mit.edu 37 22 30858091 30858091 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr22:30858091G>C ENST00000403066.1 - 10 859 c.576C>G c.(574-576)aaC>aaG p.N192K SEC14L3_ENST00000415957.2_Missense_Mutation_p.N192K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000402286.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000539629.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000215812.4_Missense_Mutation_p.N251K Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 251 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) AACATTTGGGGTTCCCATCTG 0.498000 8 37 0 0 0.047766 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120352147 120352147 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:120352147C>T ENST00000397843.2 + 39 4582 c.4416C>T c.(4414-4416)ccC>ccT p.P1472P ARHGEF12_ENST00000356641.3_Silent_p.P1453P|ARHGEF12_ENST00000532993.1_Silent_p.P1369P NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1472 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CATTCACCCCCGAATTTCTGG 0.532000 T MLL AML 6 95 0 0 0.021553 0 0 EYA1 2138 broad.mit.edu 37 8 72184055 72184055 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:72184055T>G ENST00000340726.3 - 10 1543 c.904A>C c.(904-906)Aaa>Caa p.K302Q EYA1_ENST00000388743.2_Missense_Mutation_p.K301Q|EYA1_ENST00000388742.4_Missense_Mutation_p.K302Q|EYA1_ENST00000303824.7_Missense_Mutation_p.K296Q|EYA1_ENST00000388741.2_Missense_Mutation_p.K268Q|EYA1_ENST00000419131.1_Missense_Mutation_p.K297Q|EYA1_ENST00000388740.3_Missense_Mutation_p.K269Q NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 302 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CCACGTGATTTCCCATCTGAA 0.468000 33 419 0 0 0.041601 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972591 110972591 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:110972591C>A ENST00000394607.3 - 5 864 c.701G>T c.(700-702)tGg>tTg p.W234L ELOVL6_ENST00000302274.3_Missense_Mutation_p.W234L Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 234 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) GAGTGAGGACCAGAAGATGTT 0.473000 13 152 0.00185496 0.00203699 0.016723 1 0 TNPO3 23534 broad.mit.edu 37 7 128655071 128655071 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:128655071C>A ENST00000393245.1 - 4 887 c.514G>T c.(514-516)Gat>Tat p.D172Y TNPO3_ENST00000265388.5_Missense_Mutation_p.D172Y|TNPO3_ENST00000482320.1_Missense_Mutation_p.D106Y|TNPO3_ENST00000471166.1_Missense_Mutation_p.D172Y|TNPO3_ENST00000471234.1_Missense_Mutation_p.D172Y NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 172 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 AAGGCCAAATCTTCTATAATT 0.393000 12 118 7.93312e-07 9.46337e-07 0.020292 1 0 SIAE 54414 broad.mit.edu 37 11 124524555 124524555 + Silent SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:124524555G>C ENST00000263593.3 - 4 712 c.540C>G c.(538-540)acC>acG p.T180T SIAE_ENST00000545756.1_Silent_p.T145T Q9HAT2 SIAE_HUMAN sialic acid acetylesterase 180 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 15 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) ACATACCTGAGGTGGGCTTAG 0.483000 21 234 0 0 0.083992 0 0 PTPRT 11122 broad.mit.edu 37 20 40739003 40739003 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:40739003G>A ENST00000373198.3 - 24 3525 c.3290C>T c.(3289-3291)cCg>cTg p.P1097L PTPRT_ENST00000373201.1_Missense_Mutation_p.P1065L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1075L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1085L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1084L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1074L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1078L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1075 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCAGCTTCCGGGGGGTTGAG 0.627000 22 72 0 0 0.091800 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806357 97806357 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:97806357G>T ENST00000358642.2 + 1 341 c.341G>T c.(340-342)tGc>tTc p.C114F NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ACTACAGAATGCTTCCTCCTG 0.448000 23 380 9.62636e-23 1.28534e-22 0.069288 1 0 HOXB6 3216 broad.mit.edu 37 17 46673816 46673816 + Nonsense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:46673816G>A ENST00000484302.2 - 3 1256 c.634C>T c.(634-636)Cag>Tag p.Q212* HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.Q212*|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA P17509 HXB6_HUMAN homeobox B6 212 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 GCACTGAGCTGAGACGCGCTG 0.602000 7 391 0 0 0.038147 0 0 RIMKLB 57494 broad.mit.edu 37 12 8926168 8926168 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:8926168T>C ENST00000357529.3 + 7 2211 c.949T>C c.(949-951)Tcc>Ccc p.S317P RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000538135.1_Missense_Mutation_p.S317P|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S317P NM_020734.2 NP_065785.2 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B 317 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CCGGCGTATGTCCCTGCTCTC 0.562000 29 108 0 0 0.041601 0 0 USH2A 7399 broad.mit.edu 37 1 216348688 216348688 + Silent SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:216348688A>T ENST00000366943.2 - 21 4919 c.4533T>A c.(4531-4533)gcT>gcA p.A1511A USH2A_ENST00000307340.3_Silent_p.A1511A|USH2A_ENST00000366942.3_Silent_p.A1511A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1511 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGTCATCAGAGCTGGTAGAG 0.443000 HNSCC(13;0.011) 7 90 0 0 0.038147 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716765 153716765 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chrX:153716765G>A ENST00000263512.4 - 2 1013 c.515C>T c.(514-516)cCt>cTt p.P172L SLC10A3_ENST00000393586.1_Missense_Mutation_p.P227L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.P172L|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P143L NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 172 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTCTTCAGCAGGTGAGACCTT 0.602000 53 67 0 0 0.048971 0 0 FAM66D 100132923 broad.mit.edu 37 8 11985706 11985706 + RNA SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:11985706G>A ENST00000434078.2 + 0 608 NR_027425.1 AGAGGACATAGGCCTGTTGAC 0.453000 3 55 0 0 0.014758 0 0 USP29 57663 broad.mit.edu 37 19 57641043 57641043 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:57641043C>A ENST00000254181.4 + 4 1454 c.1000C>A c.(1000-1002)Cag>Aag p.Q334K USP29_ENST00000598197.1_Missense_Mutation_p.Q334K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 334 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GACCTTGACCCAGCTGCTTGC 0.378000 19 198 7.45023e-12 9.4638e-12 0.055883 1 0 TP53 7157 broad.mit.edu 37 17 7578247 7578247 + Nonsense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:7578247A>T ENST00000420246.2 - 6 734 c.602T>A c.(601-603)tTg>tAg p.L201* TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000269305.4_Nonsense_Mutation_p.L201*|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*|TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*|TP53_ENST00000455263.2_Nonsense_Mutation_p.L201* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 201 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) CTCCACACGCAAATTTCCTTC 0.552000 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 18 64 0 0 0.062417 0 0 GRID2 2895 broad.mit.edu 37 4 94006200 94006200 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:94006200C>T ENST00000282020.4 + 3 557 c.299C>T c.(298-300)aCg>aTg p.T100M GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 100 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTGGCTGCACGTCAGCAGGA 0.522000 6 99 0 0 0.029380 0 0 OR4K1 79544 broad.mit.edu 37 14 20404174 20404174 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:20404174G>T ENST00000285600.4 + 1 408 c.349G>T c.(349-351)Gct>Tct p.A117S NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTTGCTTGTAGCTATGGCATA 0.418000 16 163 0.000422831 0.000473169 0.028581 1 0 PTPRJ 5795 broad.mit.edu 37 11 48181492 48181492 + Missense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:48181492A>T ENST00000418331.2 + 22 3801 c.3449A>T c.(3448-3450)gAg>gTg p.E1150V NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1150 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ACCAAATGTGAGGAGTATTGG 0.423000 16 148 0 0 0.033300 0 0 KLHL1 57626 broad.mit.edu 37 13 70456501 70456501 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:70456501T>A ENST00000377844.4 - 5 1900 c.1141A>T c.(1141-1143)Atg>Ttg p.M381L KLHL1_ENST00000545028.1_Missense_Mutation_p.M188L NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 381 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TTGACCCACATCATCAATGCA 0.443000 27 110 0 0 0.024334 0 0 WISP3 8838 broad.mit.edu 37 6 112375526 112375526 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:112375526T>C ENST00000361714.1 + 1 65 c.20T>C c.(19-21)cTc>cCc p.L7P WISP3_ENST00000368666.2_5'UTR|WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000230529.5_Intron|WISP3_ENST00000604763.1_Intron O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 0 cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) CGGCGACTTCTCTACCCCTCA 0.607000 22 268 0 0 0.076483 0 0 ECT2L 345930 broad.mit.edu 37 6 139134477 139134477 + Splice_Site SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:139134477G>T ENST00000423192.1 + 2 227 c.66_splice c.e2+1 p.Q22_splice ECT2L_ENST00000367682.2_Splice_Site_p.Q22_splice Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 22 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TAAATAGACAGGTAAGTTACA 0.378000 """N, Splice, Mis""" ETP ALL 9 93 4.68919e-08 5.73937e-08 0.069234 1 0 ZFP91 80829 broad.mit.edu 37 11 58384739 58384739 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:58384739G>A ENST00000316059.6 + 11 1444 c.1273G>A c.(1273-1275)Gac>Aac p.D425N ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D425N NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 425 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ACATGATGCAGACTCCTTCTA 0.428000 11 132 0 0 0.080935 0 0 DACH1 1602 broad.mit.edu 37 13 72204713 72204713 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:72204713T>A ENST00000305425.4 - 3 1529 c.1107A>T c.(1105-1107)gaA>gaT p.E369D DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.E369D|DACH1_ENST00000313174.7_Missense_Mutation_p.E369D NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 367 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TGTCCCCGTTTTCAGAGTCTG 0.378000 46 473 0 0 0.048971 0 0 SHROOM1 134549 broad.mit.edu 37 5 132158993 132158993 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:132158993G>A ENST00000378679.3 - 9 2979 c.2175C>T c.(2173-2175)cgC>cgT p.R725R SHROOM1_ENST00000319854.3_Silent_p.R725R|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Silent_p.R656R NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 725 ASD2. actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGCGGCGCACGCGCGCCAGGC 0.692000 6 70 0 0 0.021553 0 0 HPS3 84343 broad.mit.edu 37 3 148880620 148880620 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:148880620G>C ENST00000296051.2 + 13 2576 c.2436G>C c.(2434-2436)aaG>aaC p.K812N HPS3_ENST00000460120.1_Missense_Mutation_p.K647N NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 812 cytoplasm p.K812N(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GATTGTCTAAGAGGCAGCCTC 0.423000 Hermansky-Pudlak syndrome 22 152 0 0 0.083992 0 0 NEMF 9147 broad.mit.edu 37 14 50312960 50312960 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:50312960C>T ENST00000298310.5 - 4 704 c.255G>A c.(253-255)cgG>cgA p.R85R NEMF_ENST00000546046.1_Silent_p.R85R|NEMF_ENST00000556672.1_Silent_p.R85R|NEMF_ENST00000545773.1_Intron O60524 NEMF_HUMAN nuclear export mediator factor 85 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 TGACTAATCTCCGACTCTTCA 0.343000 5 115 0 0 0.014758 0 0 CERS4 79603 broad.mit.edu 37 19 8321168 8321168 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:8321168C>A ENST00000558331.1 + 7 823 c.364C>A c.(364-366)Cag>Aag p.Q122K CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.Q173K|CERS4_ENST00000559336.1_Missense_Mutation_p.Q173K|CERS4_ENST00000251363.5_Missense_Mutation_p.Q173K Q9HA82 CERS4_HUMAN ceramide synthase 4 173 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GTACCCAAACCAGGTGAGTGG 0.572000 5 31 3.59834e-05 4.16556e-05 0.021553 1 0 FOXN1 8456 broad.mit.edu 37 17 26862068 26862068 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:26862068G>T ENST00000226247.2 + 7 1508 c.1479G>T c.(1477-1479)ctG>ctT p.L493L FOXN1_ENST00000579795.1_Silent_p.L493L NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 493 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) ACTCGCCTCTGCCTGCCCACA 0.692000 25 68 1.1804e-14 1.53256e-14 0.091800 1 0 CLCN2 1181 broad.mit.edu 37 3 184071144 184071144 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:184071144C>T ENST00000265593.4 - 17 2093 c.1922G>A c.(1921-1923)aGc>aAc p.S641N CLCN2_ENST00000457512.1_Missense_Mutation_p.S641N|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.S624N|CLCN2_ENST00000434054.2_Missense_Mutation_p.S597N|EIF2B5_ENST00000444495.1_Intron NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 641 CBS 1. chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCGGGCTGGGCTCAGCTGGGC 0.627000 16 79 0 0 0.024245 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110445377 110445377 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:110445377G>T ENST00000378402.5 + 28 3376 c.3272G>T c.(3271-3273)gGa>gTa p.G1091V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1091 IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGGGTTCTGGATTTTCTCCT 0.333000 HNSCC(38;0.096) 35 497 9.62906e-15 1.25713e-14 0.086207 1 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 7 0 0 0.004672 0 0 ANK2 287 broad.mit.edu 37 4 114209630 114209630 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:114209630C>T ENST00000357077.4 + 20 2318 c.2265C>T c.(2263-2265)aaC>aaT p.N755N ANK2_ENST00000264366.6_Silent_p.N755N|ANK2_ENST00000506722.1_Silent_p.N734N|ANK2_ENST00000394537.3_Silent_p.N755N NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 755 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAAATGTTAACGCAAAAACCA 0.373000 15 68 0 0 0.024245 0 0 WIPF1 7456 broad.mit.edu 37 2 175450340 175450340 + Splice_Site SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:175450340C>T ENST00000392547.2 - 2 62 c.e2-1 WIPF1_ENST00000409415.3_Splice_Site|WIPF1_ENST00000409891.1_Splice_Site|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Splice_Site|WIPF1_ENST00000392546.2_Splice_Site|AC018890.6_ENST00000412835.1_RNA|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Splice_Site|WIPF1_ENST00000410117.1_Splice_Site NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GCTGATAAATCTGGAAAAACA 0.493000 8 57 0 0 0.047766 0 0 ZNF519 162655 broad.mit.edu 37 18 14105333 14105333 + Silent SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr18:14105333T>C ENST00000590202.1 - 3 1358 c.1206A>G c.(1204-1206)aaA>aaG p.K402K ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 ACTTGAAAGGTTTCTCTCCAG 0.403000 6 216 0 0 0.038147 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964965 7964965 + Nonsense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:7964965C>T ENST00000539278.1 - 1 3462 c.302G>A c.(301-303)tGg>tAg p.W101* LRRC8E_ENST00000306708.6_Nonsense_Mutation_p.Q520* GCTTTTCCCCCAGGAGCTAGC 0.657000 5 32 0 0 0.021553 0 0 GRHL3 57822 broad.mit.edu 37 1 24669215 24669215 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:24669215G>A ENST00000361548.4 + 10 1468 c.1238G>A c.(1237-1239)cGg>cAg p.R413Q GRHL3_ENST00000350501.5_Missense_Mutation_p.R413Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.R320Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.R418Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.R367Q NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 413 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R418Q(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GATGACGAGCGGAAGCAGTTC 0.627000 16 191 0 0 0.033300 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710445 140710445 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:140710445G>A ENST00000517417.1 + 1 194 c.194G>A c.(193-195)cGc>cAc p.R65H PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R65H NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGAGTCCGCATCGTCTCC 0.592000 5 223 0 0 0.014758 0 0 EXOC5 10640 broad.mit.edu 37 14 57676773 57676773 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:57676773T>G ENST00000413566.2 - 16 1979 c.1620A>C c.(1618-1620)ttA>ttC p.L540F EXOC5_ENST00000340918.7_Missense_Mutation_p.L475F NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 540 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 TCATACAATTTAATGTCCTAG 0.269000 6 30 0 0 0.021553 0 0 UBLCP1 134510 broad.mit.edu 37 5 158710239 158710239 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:158710239C>T ENST00000296786.6 + 10 1147 c.821C>T c.(820-822)gCg>gTg p.A274V NM_145049.3 NP_659486.2 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 1 274 FCP1 homology. nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTATGAAAGCGCACCTAAAT 0.299000 16 120 0 0 0.028581 0 0 CCDC6 8030 broad.mit.edu 37 10 61592406 61592406 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:61592406C>A ENST00000263102.6 - 3 690 c.459G>T c.(457-459)caG>caT p.Q153H NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 153 5 X 29 AA tandem repeats. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) CTTTCTCATGCTGCAACTGGA 0.398000 T RET NSCLC 6 63 0.0215528 0.0228149 0.021553 1 0 RGR 5995 broad.mit.edu 37 10 86012692 86012692 + Silent SNP C C A rs141356847 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:86012692C>A ENST00000359452.4 + 4 488 c.450C>A c.(448-450)ccC>ccA p.P150P RGR_ENST00000358110.5_Silent_p.P146P NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 146 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 CAGCTCTGCCCCTTCTGGGTT 0.607000 9 112 5.16669e-11 6.49289e-11 0.080935 1 0 SV2B 9899 broad.mit.edu 37 15 91769847 91769847 + Silent SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:91769847C>A ENST00000394232.1 + 2 824 c.354C>A c.(352-354)gcC>gcA p.A118A SV2B_ENST00000330276.4_Silent_p.A118A|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 118 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TGGGTTTGGCCCTGATGGCCG 0.537000 8 76 0.000442599 0.000492942 0.058154 1 0 RD3 343035 broad.mit.edu 37 1 211654485 211654485 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:211654485G>A ENST00000367002.4 - 2 1436 c.273C>T c.(271-273)tcC>tcT p.S91S RD3_ENST00000484910.1_Intron NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 91 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GCCCACAATAGGATGGGTGGA 0.617000 17 45 0 0 0.038395 0 0 PLG 5340 broad.mit.edu 37 6 161139390 161139390 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:161139390C>T ENST00000308192.9 + 8 915 c.852C>T c.(850-852)cgC>cgT p.R284R NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 284 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AAAACTATCGCGGGAATGTGG 0.493000 16 159 0 0 0.038395 0 0 CCT6P1 643253 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 12 0.00909568 0.00980498 0.009096 1 0 ADH1B 125 broad.mit.edu 37 4 100232742 100232742 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:100232742C>T ENST00000305046.8 - 7 967 c.900G>A c.(898-900)caG>caA p.Q300Q ADH1B_ENST00000394887.3_Silent_p.Q260Q P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 300 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TTGAGAGGTTCTGGGAAGCAG 0.473000 19 260 0 0 0.055883 0 0 KIAA1199 57214 broad.mit.edu 37 15 81176553 81176553 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:81176553C>G ENST00000394685.3 + 7 1074 c.655C>G c.(655-657)Ctg>Gtg p.L219V KIAA1199_ENST00000220244.3_Missense_Mutation_p.L219V|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L219V Q8WUJ3 K1199_HUMAN KIAA1199 219 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GAGTGAACGTCTGGTCCAGTA 0.468000 4 274 0 0 0.009096 0 0 TBCK 93627 broad.mit.edu 37 4 107016640 107016640 + Splice_Site SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:107016640T>A ENST00000273980.4 - 26 3017 c.2571_splice c.e26+1 p.E857_splice TBCK_ENST00000394706.3_Splice_Site_p.E818_splice|TBCK_ENST00000394708.2_Splice_Site_p.E857_splice|TBCK_ENST00000432496.2_Splice_Site_p.E857_splice|TBCK_ENST00000361687.4_Splice_Site_p.E794_splice Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 857 Rhodanese. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TATACTTACCTCAGCTGTGTG 0.428000 19 90 0 0 0.043863 0 0 ZNF239 8187 broad.mit.edu 37 10 44053142 44053142 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:44053142G>A ENST00000306006.6 - 2 1038 c.386C>T c.(385-387)tCg>tTg p.S129L ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.S129L|ZNF239_ENST00000426961.1_Missense_Mutation_p.S129L|ZNF239_ENST00000535642.1_Missense_Mutation_p.S129L NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding p.S129L(1) endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TAACAATGGCGAGGCCAGTTC 0.413000 9 239 0 0 0.047766 0 0 ZNF229 7772 broad.mit.edu 37 19 44933099 44933099 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:44933099C>A ENST00000291187.4 - 6 2161 c.1839G>T c.(1837-1839)caG>caT p.Q613H ZNF229_ENST00000588931.1_Missense_Mutation_p.Q619H|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 619 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGTGGACCCTCTGATGGATAA 0.547000 11 156 3.86212e-05 4.44901e-05 0.069234 1 0 ABCC1 4363 broad.mit.edu 37 16 16101762 16101762 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:16101762C>T ENST00000399408.2 + 2 313 c.138C>T c.(136-138)ctC>ctT p.L46L ABCC1_ENST00000399410.3_Silent_p.L46L|ABCC1_ENST00000345148.5_Silent_p.L46L|ABCC1_ENST00000346370.5_Silent_p.L46L|ABCC1_ENST00000349029.5_Silent_p.L46L|ABCC1_ENST00000351154.5_Silent_p.L46L P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 46 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTTTTTACCTCTGGGCCTGTT 0.507000 16 201 0 0 0.033300 0 0 TTN 7273 broad.mit.edu 37 2 179638332 179638332 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:179638332T>G ENST00000589042.1 - 32 7675 c.7451A>C c.(7450-7452)cAa>cCa p.Q2484P TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q2484P|TTN_ENST00000591111.1_Missense_Mutation_p.Q2484P|TTN_ENST00000359218.5_Missense_Mutation_p.Q2438P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q2438P|TTN_ENST00000460472.2_Missense_Mutation_p.Q2438P|TTN_ENST00000342992.6_Missense_Mutation_p.Q2484P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2213 Ig-like 14. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGCTTGATTTGTTCATCATT 0.428000 14 185 0 0 0.020292 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271590 26271590 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:26271590G>A ENST00000305910.3 - 1 22 c.23C>T c.(22-24)gCa>gTa p.A8V NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 8 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 GGACTTGCGTGCAGTCTGCTT 0.567000 5 66 0 0 0.021553 0 0 KEAP1 9817 broad.mit.edu 37 19 10602764 10602764 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:10602764G>A ENST00000171111.5 - 3 1361 c.814C>T c.(814-816)Cgc>Tgc p.R272C KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R272C NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 272 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GAGTGGCAGCGCACGGCCCGC 0.617000 10 60 0 0 0.058154 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807026 15807026 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:15807026G>A ENST00000550308.1 + 11 1685 c.1305G>A c.(1303-1305)ccG>ccA p.P435P CYP4F12_ENST00000324632.9_Silent_p.P435P NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTGTGTGGCCGGATCCTGAGG 0.557000 4 165 0 0 0.009096 0 0 EYA2 2139 broad.mit.edu 37 20 45725801 45725801 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:45725801C>T ENST00000327619.5 + 9 1256 c.882C>T c.(880-882)taC>taT p.Y294Y EYA2_ENST00000357410.3_Silent_p.Y294Y|EYA2_ENST00000317304.6_Silent_p.Y294Y NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 294 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CATCCAGATACGGGAAGGTAA 0.423000 29 275 0 0 0.034045 0 0 CYP2S1 29785 broad.mit.edu 37 19 41712380 41712380 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:41712380C>G ENST00000310054.4 + 9 1718 c.1502C>G c.(1501-1503)aCg>aGg p.T501R CYP2S1_ENST00000542619.1_Missense_Mutation_p.T226R NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 501 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CACTCCACCACGCAGACCAGA 0.602000 17 207 0 0 0.028581 0 0 LILRA1 11024 broad.mit.edu 37 19 55105660 55105660 + Splice_Site SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:55105660A>T ENST00000453777.1 + 2 122 c.e2-1 LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CTGTCCTGCCAGCACCGAGGG 0.582000 11 94 0 0 0.080935 0 0 DSG2 1829 broad.mit.edu 37 18 29110982 29110982 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr18:29110982C>T ENST00000261590.8 + 9 1256 c.1047C>T c.(1045-1047)gaC>gaT p.D349D NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 349 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGAATCTTGACTTCAGTGTTA 0.343000 40 110 0 0 0.033182 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296445 28296445 + Missense_Mutation SNP C C T rs75336666 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr21:28296445C>T ENST00000284987.5 - 8 2841 c.2720G>A c.(2719-2721)cGg>cAg p.R907Q AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 907 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGCTAACTTCCGGTTTCCATC 0.527000 13 103 0 0 0.016723 0 0 BAG2 9532 broad.mit.edu 37 6 57048922 57048922 + Silent SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:57048922A>G ENST00000370693.5 + 3 942 c.570A>G c.(568-570)ctA>ctG p.L190L BAG2_ENST00000545080.1_Silent_p.L157L NM_004282.3 NP_004273.1 O95816 BAG2_HUMAN BCL2-associated athanogene 2 190 apoptosis|protein folding protein binding endometrium(1)|large_intestine(1) 2 Lung NSC(77;0.126) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CCATCAAGCTATTAGAGCATT 0.363000 12 61 0 0 0.013537 0 0 OR10J3 441911 broad.mit.edu 37 1 159283758 159283758 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:159283758G>A ENST00000332217.5 - 1 691 c.692C>T c.(691-693)tCa>tTa p.S231L NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) ACCTTCAGCTGAGGCAATCTT 0.493000 38 138 0 0 0.092188 0 0 NAE1 8883 broad.mit.edu 37 16 66837006 66837006 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:66837006T>C ENST00000379463.2 - 21 1685 c.1493A>G c.(1492-1494)gAg>gGg p.E498G NAE1_ENST00000394074.2_Missense_Mutation_p.E415G|NAE1_ENST00000359087.4_Missense_Mutation_p.E507G|NAE1_ENST00000290810.3_Missense_Mutation_p.E504G NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 504 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TTTGATGACCTCTTGAGCAGC 0.328000 7 63 0 0 0.029380 0 0 ANO5 203859 broad.mit.edu 37 11 22296150 22296150 + Silent SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:22296150C>A ENST00000324559.8 + 20 2588 c.2271C>A c.(2269-2271)ccC>ccA p.P757P ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 757 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACATCATTCCCCGTCTAGTTT 0.358000 10 171 0.000978159 0.00107919 0.080935 1 0 PAM 5066 broad.mit.edu 37 5 102363940 102363940 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:102363940G>C ENST00000438793.3 + 24 3211 c.2741G>C c.(2740-2742)aGa>aCa p.R914T PAM_ENST00000379787.4_Intron|PAM_ENST00000274392.9_Missense_Mutation_p.R816T|PAM_ENST00000304400.7_Missense_Mutation_p.R915T|PAM_ENST00000346918.2_Intron|PAM_ENST00000455264.2_Missense_Mutation_p.R846T|PAM_ENST00000348126.2_Missense_Mutation_p.R807T NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 914 peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) GGAAGATTTAGAGGTATGCCT 0.373000 22 146 0 0 0.024334 0 0 TTYH1 57348 broad.mit.edu 37 19 54946764 54946764 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:54946764G>A ENST00000301194.4 + 11 1290 c.1168G>A c.(1168-1170)Gaa>Aaa p.E390K TTYH1_ENST00000376531.3_Missense_Mutation_p.E390K|TTYH1_ENST00000391739.3_Missense_Mutation_p.420_420insE|TTYH1_ENST00000376530.3_Missense_Mutation_p.E390K|TTYH1_ENST00000489425.1_3'UTR Q9H313 TTYH1_HUMAN tweety family member 1 390 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) AGACGCCCTGGAAGGCCTGCT 0.687000 8 87 0 0 0.038147 0 0 NKRF 55922 broad.mit.edu 37 X 118723933 118723933 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chrX:118723933C>A ENST00000371527.1 - 2 2107 c.1455G>T c.(1453-1455)gaG>gaT p.E485D NKRF_ENST00000542113.1_Missense_Mutation_p.E500D|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.E485D NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 485 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding p.E485D(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 TTACTTCACTCTCTAGAATCA 0.458000 5 186 2.0095e-06 2.38501e-06 0.029380 1 0 MGAT4A 11320 broad.mit.edu 37 2 99279521 99279521 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:99279521G>T ENST00000393487.1 - 5 838 c.525C>A c.(523-525)gtC>gtA p.V175V MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000264968.2_Silent_p.V175V|MGAT4A_ENST00000414521.2_Silent_p.V47V|MGAT4A_ENST00000409391.1_Silent_p.V175V NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 175 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 CTCCTATGAAGACTACTATAA 0.303000 29 268 0.000184323 0.000207254 0.034045 1 0 ITSN2 50618 broad.mit.edu 37 2 24432687 24432687 + Splice_Site SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:24432687C>T ENST00000355123.4 - 35 4916 c.4473_splice c.e35+1 p.T1491_splice ITSN2_ENST00000361999.3_Splice_Site_p.T1464_splice NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1491 PH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.T1490T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATACTCACCGTTTTATACA 0.502000 5 108 0 0 0.014758 0 0 FIGNL1 63979 broad.mit.edu 37 7 50514478 50514478 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:50514478G>C ENST00000419119.1 - 2 2061 c.508C>G c.(508-510)Cga>Gga p.R170G FIGNL1_ENST00000433017.1_Missense_Mutation_p.R170G|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R170G|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R170G Q6PIW4 FIGL1_HUMAN fidgetin-like 1 170 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) GTCCGGTCTCGATCATGAGCT 0.458000 35 237 0 0 0.054565 0 0 TRBV27 28560 broad.mit.edu 37 7 142423604 142423604 + RNA SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:142423604G>A ENST00000506718.1 + 0 612 TRBV27_ENST00000390399.3_RNA AAAGTCTCTCGAAAAGAGAAG 0.502000 7 62 0 0 0.047766 0 0 TTN 7273 broad.mit.edu 37 2 179650801 179650801 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:179650801C>G ENST00000589042.1 - 14 2368 c.2144G>C c.(2143-2145)aGa>aCa p.R715T TTN_ENST00000360870.5_Missense_Mutation_p.R715T|TTN_ENST00000591111.1_Missense_Mutation_p.R715T|TTN_ENST00000359218.5_Missense_Mutation_p.R669T|TTN_ENST00000342175.6_Missense_Mutation_p.R669T|TTN_ENST00000460472.2_Missense_Mutation_p.R669T|TTN_ENST00000342992.6_Missense_Mutation_p.R715T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 715 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGGGCTCTCTGACTCGGGC 0.502000 8 85 0 0 0.047766 0 0 SERGEF 26297 broad.mit.edu 37 11 17981067 17981067 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:17981067G>A ENST00000265965.5 - 9 1112 c.961C>T c.(961-963)Cca>Tca p.P321S SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 321 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 CTGTTCGGTGGTCTTGAACAG 0.478000 11 76 0 0 0.069234 0 0 FAT3 120114 broad.mit.edu 37 11 92085715 92085715 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:92085715T>C ENST00000298047.6 + 1 454 c.437T>C c.(436-438)aTa>aCa p.I146T FAT3_ENST00000525166.1_5'UTR|FAT3_ENST00000541502.1_Missense_Mutation_p.I146T|FAT3_ENST00000409404.2_Missense_Mutation_p.I146T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 146 Cadherin 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAAGTGAATATACAGGTTTTA 0.378000 TCGA Ovarian(4;0.039) 6 61 0 0 0.021553 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576465 33576465 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:33576465G>T ENST00000504830.1 - 19 4001 c.3666C>A c.(3664-3666)ccC>ccA p.P1222P ADAMTS12_ENST00000352040.3_Silent_p.P1137P NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1222 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCCTTTGGCTGGGGAGCAGTC 0.557000 HNSCC(64;0.19) 43 140 1.68508e-10 2.10636e-10 0.036044 1 0 QTRT1 81890 broad.mit.edu 37 19 10822906 10822906 + Missense_Mutation SNP T T G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:10822906T>G ENST00000250237.5 + 6 726 c.716T>G c.(715-717)tTc>tGc p.F239C NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 239 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) AAGTCGCAGTTCTGGCGGATG 0.622000 10 107 0 0 0.069234 0 0 LILRA6 79168 broad.mit.edu 37 19 54744217 54744217 + Silent SNP G G A rs78401423 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:54744217G>A ENST00000419410.2 - 6 1192 c.1191C>T c.(1189-1191)taC>taT p.Y397Y LILRA6_ENST00000396365.2_Silent_p.Y397Y|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTATGAGCCGTAGCACCTGT 0.597000 4 226 0 0 0.009096 0 0 SNTG1 54212 broad.mit.edu 37 8 51449368 51449368 + Splice_Site SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:51449368G>T ENST00000522124.1 + 11 1341 c.680_splice c.e11+1 p.R227_splice SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 227 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GATTTGAGTCGGTGAGTCCGT 0.438000 44 279 3.86361e-14 4.96146e-14 0.048971 1 0 MTERFD1 51001 broad.mit.edu 37 8 97251890 97251890 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:97251890C>G ENST00000287025.3 - 8 1181 c.1083G>C c.(1081-1083)aaG>aaC p.K361N MTERFD1_ENST00000524341.1_Missense_Mutation_p.K117N|MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000522822.1_Missense_Mutation_p.K240N NM_015942.3 NP_057026.3 Q96E29 MTER1_HUMAN MTERF domain containing 1 361 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) TTTCTTTGACCTTAAACAGCC 0.323000 15 91 0 0 0.024245 0 0 KIAA1109 84162 broad.mit.edu 37 4 123147888 123147888 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:123147888G>C ENST00000264501.4 + 24 3193 c.2820G>C c.(2818-2820)caG>caC p.Q940H KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q940H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q940H|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 940 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGTGGGGACAGACATTTGTTT 0.413000 20 294 0 0 0.069288 0 0 MKRN3 7681 broad.mit.edu 37 15 23811027 23811027 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:23811027C>T ENST00000314520.3 + 1 574 c.98C>T c.(97-99)cCc>cTc p.P33L MKRN3_ENST00000564592.1_Missense_Mutation_p.P33L|MKRN3_ENST00000568252.1_Missense_Mutation_p.P33L NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 33 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CCGGACCTTCCCGTCTGTGAG 0.682000 8 91 0 0 0.058154 0 0 MOXD1 26002 broad.mit.edu 37 6 132649650 132649650 + Silent SNP G G A rs147693794 byFrequency TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:132649650G>A ENST00000367963.3 - 5 865 c.747C>T c.(745-747)agC>agT p.S249S MOXD1_ENST00000336749.3_Silent_p.S181S NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 249 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity p.S249S(1)|p.S181S(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) ACTCCAGAACGCTGTCGTTAA 0.517000 10 101 0 0 0.080935 0 0 LDLR 3949 broad.mit.edu 37 19 11240185 11240185 + Silent SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:11240185A>T ENST00000557933.1 + 17 2535 c.2448A>T c.(2446-2448)ctA>ctT p.L816L LDLR_ENST00000558518.1_Intron|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000558013.1_Intron P01130 LDLR_HUMAN low density lipoprotein receptor 66 Required for MYLIP-triggered down- regulation of LDLR. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GCCTCTCCCTACAGTGCTCCT 0.547000 12 94 0 0 0.016723 0 0 FSTL5 56884 broad.mit.edu 37 4 162307204 162307204 + Missense_Mutation SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:162307204A>G ENST00000306100.5 - 16 2675 c.2239T>C c.(2239-2241)Tcc>Ccc p.S747P FSTL5_ENST00000379164.4_Missense_Mutation_p.S746P|FSTL5_ENST00000536695.1_Missense_Mutation_p.S746P|FSTL5_ENST00000427802.2_Missense_Mutation_p.S737P|RP11-234O6.2_ENST00000508189.1_RNA NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 747 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCAGTAAAGGATGGTTGAAAT 0.408000 17 142 0 0 0.028581 0 0 ACAD8 27034 broad.mit.edu 37 11 134131756 134131756 + Missense_Mutation SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:134131756A>T ENST00000281182.4 + 9 1170 c.1064A>T c.(1063-1065)aAg>aTg p.K355M ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.K278M|ACAD8_ENST00000374752.4_Missense_Mutation_p.K228M|ACAD8_ENST00000524547.1_3'UTR NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 355 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) TCCATGGCCAAGCTCTTTGCT 0.582000 4 54 0 0 0.009096 0 0 SCNN1A 6337 broad.mit.edu 37 12 6457162 6457162 + Silent SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:6457162T>C ENST00000358945.3 - 13 2393 c.1953A>G c.(1951-1953)ccA>ccG p.P651P SCNN1A_ENST00000543768.1_Silent_p.P652P|SCNN1A_ENST00000360168.3_Silent_p.P688P|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Silent_p.P629P|SCNN1A_ENST00000540037.1_Silent_p.P329P P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 629 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) gagcagggcctggctgggaca 0.697000 4 14 0 0 0.009096 0 0 PTPRF 5792 broad.mit.edu 37 1 44084958 44084958 + Splice_Site SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:44084958G>T ENST00000359947.4 + 28 4986 c.e28-1 PTPRF_ENST00000422171.2_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTGTCCTGCAGCGCGGGCGTG 0.652000 5 36 0.014758 0.0157642 0.014758 1 0 RIF1 55183 broad.mit.edu 37 2 152324520 152324520 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr2:152324520C>T ENST00000243326.4 + 30 7090 c.6607C>T c.(6607-6609)Cgt>Tgt p.R2203C RIF1_ENST00000430328.2_Missense_Mutation_p.R2203C|RIF1_ENST00000428287.2_Missense_Mutation_p.R2203C|RIF1_ENST00000453091.2_Missense_Mutation_p.R2203C|RIF1_ENST00000444746.2_Missense_Mutation_p.R2203C Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 2203 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TCAGGTTCGCCGTGTCTCCTT 0.358000 25 165 0 0 0.027356 0 0 OR52B2 255725 broad.mit.edu 37 11 6191298 6191298 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:6191298A>C ENST00000530810.1 - 1 340 c.259T>G c.(259-261)Ttt>Gtt p.F87V RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAAGCCAAAAGATGGCTAGG 0.493000 16 160 0 0 0.033300 0 0 OBSCN 84033 broad.mit.edu 37 1 228465484 228465484 + Missense_Mutation SNP G G C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:228465484G>C ENST00000570156.2 + 30 8145 c.8071G>C c.(8071-8073)Gtc>Ctc p.V2691L OBSCN_ENST00000284548.11_Missense_Mutation_p.V2262L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2262L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1109L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1688 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTACCGGAGAGTCCTGGCGGA 0.622000 7 62 0 0 0.047766 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296446 28296446 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr21:28296446G>T ENST00000284987.5 - 8 2840 c.2719C>A c.(2719-2721)Cgg>Agg p.R907R AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 907 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.R907R(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GCTAACTTCCGGTTTCCATCC 0.527000 13 101 9.31168e-06 1.09412e-05 0.016723 1 0 FAT1 2195 broad.mit.edu 37 4 187541443 187541443 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:187541443G>A ENST00000441802.2 - 10 6506 c.6297C>T c.(6295-6297)gtC>gtT p.V2099V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2099 Cadherin 19. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CATAGCGAATGACATGGCCCA 0.473000 HNSCC(5;0.00058) 30 255 0 0 0.050027 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944862 43944862 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:43944862G>A ENST00000389420.3 - 2 302 c.303C>T c.(301-303)gcC>gcT p.A101A ADAMTS20_ENST00000553158.1_Silent_p.A101A NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 101 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGTAGCCGGCGGCCAGAAAGG 0.682000 8 18 0 0 0.080935 0 0 PTCH1 5727 broad.mit.edu 37 9 98238315 98238315 + Splice_Site SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr9:98238315C>A ENST00000430669.2 - 12 2116 c.e12+1 PTCH1_ENST00000429896.2_Splice_Site|PTCH1_ENST00000437951.1_Splice_Site|PTCH1_ENST00000331920.6_Splice_Site|PTCH1_ENST00000418258.1_Splice_Site|PTCH1_ENST00000375274.2_Splice_Site|PTCH1_ENST00000421141.1_Splice_Site Q13635 PTC1_HUMAN patched 1 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CAGAAGCTCACCTGGAGGGAG 0.567000 24 41 2.41591e-17 3.20757e-17 0.024334 1 0 SPTLC2 9517 broad.mit.edu 37 14 78063666 78063666 + Nonsense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:78063666C>A ENST00000216484.2 - 2 383 c.190G>T c.(190-192)Gaa>Taa p.E64* NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 64 EAFE -> TLAR (in Ref. 5; AAC50871). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGTGTTTCTTCAAAAGCTTCA 0.383000 5 80 0.0215528 0.0228149 0.021553 1 0 ARHGEF17 9828 broad.mit.edu 37 11 73074856 73074856 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:73074856G>A ENST00000263674.3 + 16 5661 c.5311G>A c.(5311-5313)Gcg>Acg p.A1771T NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1771 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GCTCCAGCATGCGGCCTCTGT 0.582000 17 85 0 0 0.038395 0 0 APLNR 187 broad.mit.edu 37 11 57003872 57003872 + Missense_Mutation SNP C C G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr11:57003872C>G ENST00000606794.1 - 1 803 c.607G>C c.(607-609)Gtc>Ctc p.V203L NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 203 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GTGGACGAGACCCCAAGGCCC 0.592000 8 69 0 0 0.038147 0 0 NRD1 4898 broad.mit.edu 37 1 52289446 52289446 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr1:52289446G>A ENST00000354831.7 - 9 1442 c.1253C>T c.(1252-1254)aCg>aTg p.T418M NRD1_ENST00000539524.1_Missense_Mutation_p.T286M|NRD1_ENST00000352171.7_Missense_Mutation_p.T350M|NRD1_ENST00000544028.1_Missense_Mutation_p.T218M|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 349 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ATGCTTGAGCGTCTCAGCATT 0.313000 6 84 0 0 0.021553 0 0 CEP89 84902 broad.mit.edu 37 19 33370188 33370188 + Silent SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:33370188G>A ENST00000305768.4 - 19 2320 c.2232C>T c.(2230-2232)ggC>ggT p.G744G NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 744 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TGTCCTGCACGCCTGTCCTCG 0.537000 21 255 0 0 0.069288 0 0 SLFN13 146857 broad.mit.edu 37 17 33767957 33767957 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:33767957G>T ENST00000285013.6 - 6 2626 c.2351C>A c.(2350-2352)aCt>aAt p.T784N SLFN13_ENST00000533791.1_Missense_Mutation_p.T784N|SLFN13_ENST00000534689.1_Missense_Mutation_p.T466N|SLFN13_ENST00000360502.2_Missense_Mutation_p.T466N|SLFN13_ENST00000542635.1_Missense_Mutation_p.T784N|SLFN13_ENST00000526861.1_Missense_Mutation_p.T784N NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 784 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTGCTCCAAAGTAAAGTTTTT 0.443000 34 103 1.61788e-16 2.13596e-16 0.050027 1 0 P2RY10 27334 broad.mit.edu 37 X 78216634 78216634 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chrX:78216634G>T ENST00000171757.2 + 4 897 c.617G>T c.(616-618)gGa>gTa p.G206V P2RY10_ENST00000544091.1_Missense_Mutation_p.G206V NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 206 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 GAGCTTGCAGGATTTGTGATC 0.458000 10 56 3.07112e-06 3.6267e-06 0.080935 1 0 PFAS 5198 broad.mit.edu 37 17 8170877 8170877 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:8170877C>T ENST00000314666.6 + 26 3409 c.3276C>T c.(3274-3276)gaC>gaT p.D1092D PFAS_ENST00000545834.1_Silent_p.D668D NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1092 Glutamine amidotransferase type-1. 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGGTATGGGACGTGACCATGC 0.637000 18 155 0 0 0.049695 0 0 TRIM8 81603 broad.mit.edu 37 10 104416556 104416556 + Silent SNP C C T rs41300235 byFrequency TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:104416556C>T ENST00000302424.6 + 6 1223 c.1101C>T c.(1099-1101)tgC>tgT p.C367C TRIM8_ENST00000487927.1_3'UTR NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 367 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding p.C367C(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGTACCCTTGCGGCGTGAGCA 0.647000 5 235 0 0 0.014758 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256577 69256577 + Silent SNP A A T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr14:69256577A>T ENST00000439696.2 - 2 991 c.690T>A c.(688-690)ccT>ccA p.P230P ZFP36L1_ENST00000336440.3_Silent_p.P230P|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 230 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CGCTCAGAATAGGGGGTGGGG 0.637000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 197 0 0 0.055883 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). 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 kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 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) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 15 0 0 0.028581 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377720 125377720 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr9:125377720G>T ENST00000297913.2 + 1 773 c.704G>T c.(703-705)tGg>tTg p.W235L RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 AAGGGCAGGTGGAAAACCTTT 0.557000 48 165 1.81118e-26 2.43216e-26 0.048971 1 0 CHRM5 1133 broad.mit.edu 37 15 34355730 34355730 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:34355730G>T ENST00000383263.5 + 3 1482 c.812G>T c.(811-813)tGg>tTg p.W271L CHRM5_ENST00000557872.1_Missense_Mutation_p.W271L NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 271 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CAGGCCTCCTGGTCATCCTCC 0.612000 8 109 0.0381472 0.0402 0.038147 1 0 TAF15 8148 broad.mit.edu 37 17 34171147 34171147 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:34171147G>T ENST00000588240.1 + 13 1188 c.1073G>T c.(1072-1074)tGg>tTg p.W358L TAF15_ENST00000592237.1_Missense_Mutation_p.W267L|TAF15_ENST00000311979.3_Missense_Mutation_p.W355L NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 358 Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AGTGGGGATTGGGTTTGCCCT 0.527000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 17 212 1.45105e-14 1.87361e-14 0.038395 1 0 IKZF1 10320 broad.mit.edu 37 7 50468217 50468217 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:50468217C>T ENST00000331340.3 + 8 1607 c.1452C>T c.(1450-1452)caC>caT p.H484H IKZF1_ENST00000439701.1_Silent_p.H442H|IKZF1_ENST00000357364.4_Silent_p.H397H|IKZF1_ENST00000438033.1_Silent_p.H397H|IKZF1_ENST00000359197.5_Silent_p.H442H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.H397H|IKZF1_ENST00000346667.4_Silent_p.H254H|IKZF1_ENST00000349824.4_Silent_p.H341H NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 484 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TGGGCTGCCACGGCTTCCGTG 0.587000 """D,T""" BCL6 """ALL, DLBCL""" 7 26 0 0 0.047766 0 0 ZIK1 284307 broad.mit.edu 37 19 58101682 58101682 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:58101682G>A ENST00000597850.1 + 4 718 c.503G>A c.(502-504)cGc>cAc p.R168H ZIK1_ENST00000599456.1_Missense_Mutation_p.R113H|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R155H NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAGCCCTTTCGCAAATGGGAG 0.502000 5 81 0 0 0.029380 0 0 ZNF366 167465 broad.mit.edu 37 5 71756160 71756160 + Silent SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:71756160C>T ENST00000318442.5 - 2 1654 c.1164G>A c.(1162-1164)cgG>cgA p.R388R NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGATGGGGCCCCGGTGCGTGG 0.612000 8 57 0 0 0.058154 0 0 SLC25A27 9481 broad.mit.edu 37 6 46644143 46644143 + Nonsense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:46644143G>A ENST00000371347.5 + 9 1176 c.924G>A c.(922-924)tgG>tgA p.W308* RP11-446F17.3_ENST00000422284.2_RNA|SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000452689.2_Nonsense_Mutation_p.W222*|RP11-446F17.3_ENST00000434329.2_RNA NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 308 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) TGGTGTTCTGGCTTACTTATG 0.328000 14 96 0 0 0.033300 0 0 BRSK1 84446 broad.mit.edu 37 19 55815119 55815119 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:55815119G>A ENST00000309383.1 + 12 1488 c.1211G>A c.(1210-1212)aGc>aAc p.S404N BRSK1_ENST00000326848.7_Missense_Mutation_p.S99N|BRSK1_ENST00000590333.1_Missense_Mutation_p.S420N NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 404 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GAAGTCCTGAGCATCACCGAT 0.662000 11 158 0 0 0.080935 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24909529 24909529 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:24909529C>T ENST00000396432.2 - 9 1781 c.1295G>A c.(1294-1296)cGc>cAc p.R432H ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R219H NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 431 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CAAAGTAGTGCGGTTGGGGAC 0.488000 4 132 0 0 0.014758 0 0 BTBD3 22903 broad.mit.edu 37 20 11903518 11903518 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:11903518C>A ENST00000405977.1 + 5 1398 c.773C>A c.(772-774)tCt>tAt p.S258Y BTBD3_ENST00000399006.2_Missense_Mutation_p.S197Y|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000254977.3_Missense_Mutation_p.S197Y|BTBD3_ENST00000378226.2_Missense_Mutation_p.S258Y Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 258 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GCTCTCAAGTCTGAGGGATTC 0.517000 13 117 1.49906e-05 1.74395e-05 0.020292 1 0 ADH1B 125 broad.mit.edu 37 4 100242501 100242501 + Translation_Start_Site SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr4:100242501T>A ENST00000305046.8 - 0 55 ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_De_novo_Start_OutOfFrame P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CGTTTCTGTCTTCTCTGCCCA 0.348000 39 145 0 0 0.030466 0 0 RPUSD2 27079 broad.mit.edu 37 15 40866110 40866110 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:40866110C>A ENST00000315616.7 + 3 1326 c.1288C>A c.(1288-1290)Ctc>Atc p.L430I RPUSD2_ENST00000559271.1_Missense_Mutation_p.L369I NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 430 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TGTGCTAGATCTCTGTGAGGG 0.597000 16 123 1.15919e-05 1.35527e-05 0.049695 1 0 GRID1 2894 broad.mit.edu 37 10 87614257 87614257 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr10:87614257C>T ENST00000327946.7 - 8 1314 c.1229G>A c.(1228-1230)cGc>cAc p.R410H NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 410 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GCTTACCTTGCGCATGTCTTT 0.512000 Multiple Myeloma(13;0.14) 9 65 0 0 0.047766 0 0 TFEC 22797 broad.mit.edu 37 7 115624314 115624314 + Splice_Site SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:115624314A>G ENST00000265440.7 - 2 361 c.e2+1 TFEC_ENST00000484212.1_Splice_Site|TFEC_ENST00000393485.1_Splice_Site|TFEC_ENST00000320239.7_Splice_Site NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) CATTAGACATACATGCCATTG 0.363000 18 229 0 0 0.043863 0 0 ABAT 18 broad.mit.edu 37 16 8866736 8866736 + Missense_Mutation SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr16:8866736G>A ENST00000396600.2 + 12 1854 c.916G>A c.(916-918)Gat>Aat p.D306N ABAT_ENST00000268251.8_Missense_Mutation_p.D306N|ABAT_ENST00000567812.1_Missense_Mutation_p.D321N|ABAT_ENST00000569156.1_Missense_Mutation_p.D306N|ABAT_ENST00000425191.2_Missense_Mutation_p.D306N NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 306 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CCACGCATCCGATGACTTCTT 0.552000 5 56 0 0 0.014758 0 0 CTNND2 1501 broad.mit.edu 37 5 11364871 11364871 + Missense_Mutation SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:11364871G>T ENST00000304623.8 - 8 1498 c.1309C>A c.(1309-1311)Ctc>Atc p.L437I CTNND2_ENST00000503622.1_Missense_Mutation_p.L100I|CTNND2_ENST00000458100.2_Missense_Mutation_p.L4I|CTNND2_ENST00000359640.2_Missense_Mutation_p.L437I|CTNND2_ENST00000511377.1_Missense_Mutation_p.L346I|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 437 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CTCTGGCTGAGACTCCTCATA 0.627000 6 66 4.096e-09 5.06611e-09 0.021553 1 0 ATP13A3 79572 broad.mit.edu 37 3 194182898 194182898 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:194182898T>C ENST00000439040.1 - 3 813 c.22A>G c.(22-24)Acc>Gcc p.T8A ATP13A3_ENST00000256031.4_Missense_Mutation_p.T8A Q9H7F0 AT133_HUMAN ATPase type 13A3 8 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGATTGATGGTCTTCCTTTCT 0.408000 10 138 0 0 0.080935 0 0 TRPC4 7223 broad.mit.edu 37 13 38237583 38237583 + Missense_Mutation SNP C C A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr13:38237583C>A ENST00000379705.3 - 6 2515 c.1658G>T c.(1657-1659)aGa>aTa p.R553I TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.R553I|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.R380I|TRPC4_ENST00000379673.2_Missense_Mutation_p.R553I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R553I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R553I|TRPC4_ENST00000338947.5_Missense_Mutation_p.R380I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R553I Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 553 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTTTTCACATCTTATGCCTTT 0.353000 10 65 2.80697e-09 3.49015e-09 0.080935 1 0 SMURF1 57154 broad.mit.edu 37 7 98655145 98655145 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:98655145A>C ENST00000361125.1 - 4 552 c.233T>G c.(232-234)aTt>aGt p.I78S SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.I78S NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 78 C2. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) CCACACGCTAATGGTTATCGA 0.378000 8 57 0 0 0.047766 0 0 ASTN2 23245 broad.mit.edu 37 9 119976896 119976896 + Silent SNP G G T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr9:119976896G>T ENST00000313400.4 - 3 856 c.756C>A c.(754-756)atC>atA p.I252I ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.I252I|ASTN2_ENST00000373996.3_Silent_p.I252I O75129 ASTN2_HUMAN astrotactin 2 252 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGATGTAGTGGATCTCATGAG 0.627000 34 44 1.06647e-15 1.40012e-15 0.064281 1 0 CNTN6 27255 broad.mit.edu 37 3 1414632 1414632 + Silent SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:1414632T>C ENST00000446702.2 + 14 2406 c.1779T>C c.(1777-1779)atT>atC p.I593I CNTN6_ENST00000350110.2_Silent_p.I593I|CNTN6_ENST00000539053.1_Silent_p.I521I Q9UQ52 CNTN6_HUMAN contactin 6 593 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CCGATATCATTGTTAGAGGTA 0.358000 3 97 0 0 0.047766 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310010 178310010 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:178310010C>T ENST00000322434.3 + 5 783 c.557C>T c.(556-558)tCa>tTa p.S186L NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAAACTCCATCAAAATGTGAA 0.308000 11 87 0 0 0.069234 0 0 HOXB1 3211 broad.mit.edu 37 17 46607812 46607812 + Missense_Mutation SNP A A C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr17:46607812A>C ENST00000239174.6 - 1 547 c.455T>G c.(454-456)tTt>tGt p.F152C HOXB1_ENST00000577092.1_Missense_Mutation_p.F152C NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 152 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGCCGGTGCAAAGCTCGCGGT 0.622000 9 85 0 0 0.047766 0 0 RNF123 63891 broad.mit.edu 37 3 49758486 49758487 + Frame_Shift_Ins INS - - A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr3:49758486_49758487insA ENST00000327697.6 + 38 3916_3917 c.3772_3773insA c.(3772-3774)tgcfs p.C1258fs AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000433785.1_Frame_Shift_Ins_p.C370fs|GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1258 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CCCCATCTGCTATGCCCACCCC 0.604 24 124 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95414786 95414787 + RNA INS - - TAAAA rs80243332 by1000genomes TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr5:95414786_95414787insTAAAA ENST00000507997.1 + 0 87 CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA acccatgcacttaaagttaaaa 0.361 3 4 --- --- --- --- HIST1H2BF 8343 broad.mit.edu 37 6 26199981 26199983 + In_Frame_Del DEL CTT CTT - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr6:26199981_26199983delCTT ENST00000359985.1 + 1 234_236 c.195_197delCTT c.(193-198)tcc>tc p.SF65del NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 65 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) TCATGAACTCCTTCGTCAACGAT 0.581 40 362 --- --- --- --- NSUN5P1 155400 broad.mit.edu 37 7 75045497 75045497 + RNA DEL G G - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr7:75045497delG ENST00000393633.2 + 0 4280 large_intestine(1)|lung(1) 2 GGGTCGTGGAGGGGGGGGATG 0.657 3 6 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96415908 96415913 + RNA DEL TTTTTT TTTTTT - rs59279759 TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr8:96415908_96415913delTTTTTT ENST00000521905.1 + 0 126 aataaaAGACtttttttttttttttt 0.325 2 4 --- --- --- --- USP5 8078 broad.mit.edu 37 12 6972476 6972481 + In_Frame_Del DEL GCCTTG GCCTTG - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:6972476_6972481delGCCTTG ENST00000229268.8 + 15 1941_1946 c.1889_1894delGCCTTG c.(1888-1896)agt>a p.SLG630del USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 630 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 CCCAAAGGTAGCCTTGGTTTCTATGG 0.587 22 186 --- --- --- --- CCDC64 92558 broad.mit.edu 37 12 120527826 120527826 + Frame_Shift_Del DEL A A - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr12:120527826delA ENST00000397558.2 + 8 1511 c.1511delA c.(1510-1512)gtfs p.D504fs CCDC64_ENST00000257583.4_Frame_Shift_Del_p.D201fs|CCDC64_ENST00000446727.2_Frame_Shift_Del_p.D175fs NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 504 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGTTGCTGGATGCCATTCAG 0.532 34 126 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62254687 62254701 + In_Frame_Del DEL ATACAAATCCAAATT ATACAAATCCAAATT - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:62254687_62254701delATACAAATCCAAATT ENST00000261517.5 - 34 3545_3559 c.3472_3486delAATTTGGATTTGTAT c.(3472-3486)del p.NLDLY1158del VPS13C_ENST00000249837.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000395898.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000395896.4_In_Frame_Del_p.NLDLY1158del NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1158 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TAGCATCTGGATACAAATCCAAATTAAAACGGAAA 0.367 22 322 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 4 3 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56278955 56278955 + Frame_Shift_Del DEL C C - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr18:56278955delC ENST00000361673.3 - 2 288 c.75delG c.(73-75)gafs p.E25fs NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 25 Ig-like 1. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CGTCTGACTTCTCAGGAACCT 0.483 19 207 --- --- --- --- PEG3 5178 broad.mit.edu 37 19 57325826 57325835 + Frame_Shift_Del DEL AGCTCCTTTG AGCTCCTTTG - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr19:57325826_57325835delAGCTCCTTTG ENST00000326441.9 - 10 4338_4347 c.3975_3984delCAAAGGAGCT c.(3973-3984)ctfs p.LKGA1325fs ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.LKGA1201fs|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.LKGA1325fs|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.LKGA1199fs|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1325 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGAATGGTATAGCTCCTTTGAGGGGCTCAG 0.429 8 142 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25666234 25666234 + Frame_Shift_Del DEL T T - TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf1e53d-22dc-4b11-9b3f-e421bc28b835 0aa9f9d9-40fb-4ab2-add5-68931d6367eb g.chr20:25666234delT ENST00000376436.1 - 3 758 c.219delA c.(217-219)gafs p.E74fs ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E74fs|ZNF337_ENST00000481610.1_5'UTR zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTCTTCTCTCTTCTCCCCAGG 0.572 90 507 --- --- --- ---