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 PTBP3 9991 broad.mit.edu 37 9 115013271 115013271 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr9:115013271C>A ENST00000334318.6 - 8 1019 c.833G>T c.(832-834)cGc>cTc p.R278L PTBP3_ENST00000458258.1_Missense_Mutation_p.R281L|PTBP3_ENST00000343327.2_Missense_Mutation_p.R180L|PTBP3_ENST00000374255.2_Missense_Mutation_p.R275L|PTBP3_ENST00000374257.1_Missense_Mutation_p.R247L NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 275 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding AAGGTCTAAGCGAGTGAAGTC 0.443000 62 103 2.2129e-31 2.80472e-31 1 1 0 TSPEAR 54084 broad.mit.edu 37 21 45948375 45948375 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr21:45948375C>T ENST00000323084.4 - 6 947 c.882G>A c.(880-882)ctG>ctA p.L294L TSPEAR_ENST00000397916.1_Silent_p.L226L NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 294 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CACACAGATACAGGCCCTTCC 0.617000 22 39 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46677139 46677139 + Missense_Mutation SNP T T C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr6:46677139T>C ENST00000274793.7 - 9 990 c.794A>G c.(793-795)gAa>gGa p.E265G PLA2G7_ENST00000537365.1_Missense_Mutation_p.E265G NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 265 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TGCTATTTTTTCCCTATCAAT 0.303000 34 88 0 0 1 0 0 FOXF2 2295 broad.mit.edu 37 6 1390682 1390682 + Missense_Mutation SNP G G T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr6:1390682G>T ENST00000259806.1 + 1 614 c.500G>T c.(499-501)cGg>cTg p.R167L NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 167 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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 factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) GGCCTCGGGCGGCCCGGCAAG 0.667000 10 122 0.000442599 0.000455126 1 1 0 SLC18A3 6572 broad.mit.edu 37 10 50820313 50820313 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr10:50820313C>T ENST00000374115.3 + 1 1967 c.1527C>T c.(1525-1527)ggC>ggT p.G509G CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 509 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GCCAGGACGGCGAGCCTCGCA 0.652000 21 65 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165953013 165953013 + Nonsense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:165953013C>T ENST00000360093.3 - 24 4748 c.4257G>A c.(4255-4257)tgG>tgA p.W1419* SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1370*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1419* NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1419 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TAATATCCATCCAGCCTTTAA 0.294000 14 42 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38117419 38117419 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr21:38117419C>T ENST00000290399.6 + 10 2171 c.1558C>T c.(1558-1560)Ctg>Ttg p.L520L SIM2_ENST00000430056.3_Silent_p.L520L NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 520 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 TAGGCACAGCCTGGTGCCAAG 0.627000 4 5 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50176978 50176978 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr19:50176978C>T ENST00000246785.3 + 7 1236 c.978C>T c.(976-978)ccC>ccT p.P326P BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000594793.1_3'UTR|BCL2L12_ENST00000441864.2_Silent_p.P325P NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 326 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CTGTTTCACCCGTGGACTTGA 0.557000 10 57 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586096 20586096 + Silent SNP G G T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:20586096G>T ENST00000315543.4 + 1 531 c.531G>T c.(529-531)gtG>gtT p.V177V NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGCTTGTAGTGACCTCATGGC 0.448000 58 72 1.17673e-23 1.42515e-23 1 1 0 RLIM 51132 broad.mit.edu 37 X 73811695 73811695 + Silent SNP A A G TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chrX:73811695A>G ENST00000332687.6 - 4 1673 c.1455T>C c.(1453-1455)agT>agC p.S485S RLIM_ENST00000349225.2_Silent_p.S485S NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 485 Ser-rich. random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TAGTTTCTGAACTTTCACCAc 0.493000 3 15 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190595232 190595232 + Missense_Mutation SNP A A T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:190595232A>T ENST00000520309.1 + 16 3293 c.3205A>T c.(3205-3207)Aca>Tca p.T1069S ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.T998S|ANKAR_ENST00000313581.4_Missense_Mutation_p.T1069S|ANKAR_ENST00000281412.6_Intron NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1069 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGTAGCCCATACAAGCAATCC 0.373000 4 22 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20682933 20682933 + Silent SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr16:20682933G>A ENST00000307493.4 - 4 739 c.672C>T c.(670-672)ttC>ttT p.F224F ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F224F NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 224 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CACTGGTGAAGAAGATGACCA 0.502000 36 62 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142654951 142654951 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr7:142654951C>A ENST00000355265.2 - 6 1109 c.635G>T c.(634-636)gGa>gTa p.G212V KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 212 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AGGATGAGGTCCTAGGTAGGC 0.517000 16 47 1.5739e-10 1.78703e-10 1 1 0 GPR101 83550 broad.mit.edu 37 X 136113733 136113733 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chrX:136113733C>T ENST00000298110.1 - 1 100 c.101G>A c.(100-102)cGc>cAc p.R34H NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 34 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CACGGTTGAGCGGATGATGCC 0.607000 50 20 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302064 128302064 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr5:128302064C>T ENST00000262462.4 + 1 1244 c.234C>T c.(232-234)gaC>gaT p.D78D SLC27A6_ENST00000395266.1_Silent_p.D78D|SLC27A6_ENST00000506176.1_Silent_p.D78D Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 78 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding p.D78D(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) ATGAGGGAGACATCTACACCT 0.478000 36 19 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41463813 41463813 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr12:41463813C>T ENST00000551295.2 + 24 3150 c.3033C>T c.(3031-3033)ggC>ggT p.G1011G CNTN1_ENST00000347616.1_Silent_p.G1011G|CNTN1_ENST00000348761.2_Silent_p.G1000G NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 1011 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTGCCTTTGGCATCCTTGTCT 0.483000 11 35 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185978226 185978226 + Splice_Site SNP A A T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr3:185978226A>T ENST00000265022.3 - 16 1964 c.e16+1 DGKG_ENST00000344484.4_Intron|DGKG_ENST00000544847.1_Splice_Site|DGKG_ENST00000382164.4_Splice_Site NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TGATCTCCATACCCTGGAGTA 0.408000 11 21 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98157320 98157320 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:98157320C>T ENST00000370192.3 - 7 815 c.715G>A c.(715-717)Gat>Aat p.D239N DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 239 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCACTACATCATACGGCAGC 0.368000 14 51 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106509549 106509549 + Missense_Mutation SNP G G C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:106509549G>C ENST00000233154.4 + 5 1502 c.1060G>C c.(1060-1062)Gag>Cag p.E354Q NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.E354Q|NCK2_ENST00000451463.2_3'UTR NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 354 SH2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 CACCATGGACGAGCTGGTGGA 0.602000 11 39 0 0 1 0 0 SCARA3 51435 broad.mit.edu 37 8 27516476 27516476 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr8:27516476C>T ENST00000301904.3 + 5 809 c.789C>T c.(787-789)agC>agT p.S263S SCARA3_ENST00000337221.4_Silent_p.S263S NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 263 response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) GGCTCTTCAGCGGCCTGCGCA 0.612000 4 39 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072280 17072280 + Missense_Mutation SNP A A T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr22:17072280A>T ENST00000359963.3 - 1 1420 c.1161T>A c.(1159-1161)agT>agA p.S387R NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 387 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCTGCTCTGCACTCCGCAGCC 0.562000 27 37 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76234333 76234333 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:76234333G>A ENST00000529032.1 + 11 1819 c.1819G>A c.(1819-1821)Gga>Aga p.G607R C11orf30_ENST00000533248.1_Missense_Mutation_p.G621R|C11orf30_ENST00000524767.1_Missense_Mutation_p.G622R|C11orf30_ENST00000524490.1_Missense_Mutation_p.G523R|C11orf30_ENST00000334736.3_Missense_Mutation_p.G607R|C11orf30_ENST00000343878.3_Missense_Mutation_p.G607R|C11orf30_ENST00000525038.1_Missense_Mutation_p.G622R|C11orf30_ENST00000525919.1_Missense_Mutation_p.G608R Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 607 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCTAAATGCTGGAGTAAGTGA 0.428000 10 25 0 0 1 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29447388 29447388 + Missense_Mutation SNP T T C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr18:29447388T>C ENST00000283351.4 - 17 2775 c.2440A>G c.(2440-2442)Att>Gtt p.I814V TRAPPC8_ENST00000582539.1_Missense_Mutation_p.I760V NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 814 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TCGCCATTAATTAAGAACTCT 0.269000 38 66 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21852044 21852044 + Missense_Mutation SNP T T C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:21852044T>C ENST00000216297.2 - 1 381 c.43A>G c.(43-45)Aag>Gag p.K15E SUPT16H_ENST00000555943.1_Missense_Mutation_p.K15E NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 15 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TACAGTCTCTTCACTCGCCGA 0.557000 4 103 0 0 1 0 0 FRRS1 391059 broad.mit.edu 37 1 100177977 100177977 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:100177977G>A ENST00000414213.1 - 13 2019 c.1418C>T c.(1417-1419)cCa>cTa p.P473L FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.P473L Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 473 Cytochrome b561. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) TAAGTACCTTGGGTCATGTAA 0.388000 18 20 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149866 34149866 + Missense_Mutation SNP G G T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chrX:34149866G>T ENST00000346193.3 - 1 581 c.530C>A c.(529-531)aCt>aAt p.T177N NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 177 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACCAGGCTCAGTGGGTACCTC 0.577000 13 14 0.00136819 0.00139377 1 1 0 SSPO 23145 broad.mit.edu 37 7 149509413 149509413 + RNA SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr7:149509413G>A ENST00000378016.2 + 0 9811 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGTGGGGGAGGCCTGCGGAG 0.716000 8 5 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113404993 113404993 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:113404993G>A ENST00000272542.3 + 3 966 c.427G>A c.(427-429)Gtg>Atg p.V143M NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 143 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 TTTCTCCCTCGTGGCAAAGGG 0.433000 96 121 0 0 1 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45950259 45950259 + Missense_Mutation SNP C C T rs2271851 byFrequency TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:45950259C>T ENST00000531526.1 + 14 2140 c.2029C>T c.(2029-2031)Cgc>Tgc p.R677C GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R677C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R646C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R677C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R646C NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 677 R -> C (in dbSNP:rs2271851). muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) CTCCCGCTTCCGCTCCAGCCC 0.637000 11 53 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207287603 207287603 + Missense_Mutation SNP G G A rs148489140 TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:207287603G>A ENST00000367070.3 + 3 495 c.301G>A c.(301-303)Gaa>Aaa p.E101K NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 101 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TTCTGATGGCGAATGGGTGTA 0.393000 4 94 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91420200 91420200 + Silent SNP C C G TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr15:91420200C>G ENST00000268171.3 + 5 726 c.447C>G c.(445-447)gtC>gtG p.V149V NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 149 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCATTGTGGTCTCCATTCTGG 0.602000 66 32 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 601588 601588 + Missense_Mutation SNP G G C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:601588G>C ENST00000264555.5 + 10 1167 c.1039G>C c.(1039-1041)Gtg>Ctg p.V347L PHRF1_ENST00000416188.2_Missense_Mutation_p.V347L|PHRF1_ENST00000413872.2_Missense_Mutation_p.V346L|PHRF1_ENST00000533464.1_Missense_Mutation_p.V343L NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 347 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 ACGGAAGAAAGTGCCGGGAAG 0.537000 17 42 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711567 155711567 + Silent SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:155711567C>A ENST00000295101.2 + 3 1725 c.1248C>A c.(1246-1248)ctC>ctA p.L416L NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 416 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CCAAAAAACTCTTGAGGATGA 0.388000 45 44 4.0306e-16 4.82786e-16 1 1 0 ZNF440 126070 broad.mit.edu 37 19 11943101 11943101 + Silent SNP T T C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr19:11943101T>C ENST00000304060.5 + 4 1274 c.1110T>C c.(1108-1110)tgT>tgC p.C370C NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCTATAAATGTAAGCAGTGTG 0.383000 6 57 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216850525 216850525 + Nonsense_Mutation SNP G G T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:216850525G>T ENST00000391890.3 - 4 813 c.296C>A c.(295-297)tCg>tAg p.S99* ESRRG_ENST00000493603.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.S122*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.S127*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.S99* NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 122 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CTTGGGCATCGAGTTGAGCAT 0.502000 56 73 3.84483e-29 4.81709e-29 1 1 0 TMEM140 55281 broad.mit.edu 37 7 134849719 134849719 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr7:134849719G>A ENST00000275767.2 + 2 749 c.526G>A c.(526-528)Gag>Aag p.E176K C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 176 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 TCTGAGGGCTGAGAGGGCTGA 0.577000 10 28 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117230489 117230489 + Nonsense_Mutation SNP G G T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr7:117230489G>T ENST00000003084.6 + 13 1894 c.1762G>T c.(1762-1764)Gaa>Taa p.E588* CFTR_ENST00000454343.1_Nonsense_Mutation_p.E527* NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 588 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AGAAATATTTGAAAGGTATGT 0.294000 Cystic Fibrosis 9 77 2.74318e-10 3.08254e-10 1 1 0 SCN3A 6328 broad.mit.edu 37 2 165953014 165953014 + Missense_Mutation SNP C C G TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:165953014C>G ENST00000360093.3 - 24 4747 c.4256G>C c.(4255-4257)tGg>tCg p.W1419S SCN3A_ENST00000409101.3_Missense_Mutation_p.W1370S|SCN3A_ENST00000283254.7_Missense_Mutation_p.W1419S NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1419 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AATATCCATCCAGCCTTTAAA 0.294000 14 42 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155503997 155503997 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr7:155503997C>T ENST00000401878.3 + 8 1247 c.1049C>T c.(1048-1050)cCg>cTg p.P350L RBM33_ENST00000486747.1_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 350 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) GTGCAGCACCCGCACCACCCA 0.687000 22 38 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76816075 76816075 + Translation_Start_Site SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr17:76816075C>T ENST00000449938.2 - 0 1403 USP36_ENST00000312010.6_Missense_Mutation_p.R283H|USP36_ENST00000542802.2_Missense_Mutation_p.R283H Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R283H(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TTCCAGAGCACGCACAATATT 0.428000 101 44 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008940 120008940 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chrX:120008940C>T ENST00000371311.3 - 1 839 c.585G>A c.(583-585)tcG>tcA p.S195S NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 195 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCTCCTGGACCGACGCAGCCT 0.706000 42 13 0 0 1 0 0 BTBD6 90135 broad.mit.edu 37 14 105715748 105715748 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:105715748C>T ENST00000463376.2 + 2 674 c.133C>T c.(133-135)Ctg>Ttg p.L45L BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Silent_p.L120L|BTBD6_ENST00000392554.3_Silent_p.L120L|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000327471.3_Silent_p.L45L|BRF1_ENST00000379937.2_Intron Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 120 Pro-rich. cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) CTACGGAGACCTGGCGGAAGT 0.582000 26 52 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848051 166848051 + Nonsense_Mutation SNP G G A rs77216276 TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:166848051G>A ENST00000423058.2 - 26 5751 c.5734C>T c.(5734-5736)Cga>Tga p.R1912* SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1912*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1901*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1884*|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1912 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTTGTTTTCGTTTTAAAGTA 0.413000 53 55 0 0 1 0 0 ZRANB2 9406 broad.mit.edu 37 1 71544350 71544350 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:71544350C>T ENST00000370920.3 - 2 399 c.98G>A c.(97-99)cGa>cAa p.R33Q ZRANB2_ENST00000254821.6_Missense_Mutation_p.R33Q NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 33 mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 CCGACCACATCGATTACAGCT 0.254000 18 94 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487510 131487510 + Silent SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:131487510C>A ENST00000309926.4 + 1 868 c.786C>A c.(784-786)acC>acA p.T262T NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 262 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CCAGGGGCACCCTGCTGATCC 0.572000 22 68 3.62473e-10 3.99087e-10 1 1 0 PRPH 5630 broad.mit.edu 37 12 49691346 49691346 + Silent SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr12:49691346G>A ENST00000257860.4 + 6 2702 c.1203G>A c.(1201-1203)gaG>gaA p.E401E RP11-161H23.9_ENST00000553259.1_RNA NM_006262.3 NP_006253.2 P41219 PERI_HUMAN peripherin 401 Coil 2.|Rod. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 AGCTGCTGGAGGGCGAGGAGA 0.687000 21 22 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49626377 49626377 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr20:49626377G>A ENST00000371571.4 - 2 784 c.499C>T c.(499-501)Cgc>Tgc p.R167C KCNG1_ENST00000396017.3_Missense_Mutation_p.R167C|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 167 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGGTAGCGGCGCTTGCAGCAG 0.687000 5 66 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79032122 79032122 + Missense_Mutation SNP G G T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr5:79032122G>T ENST00000446378.2 + 2 7565 c.7534G>T c.(7534-7536)Gct>Tct p.A2512S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2512 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAAAGCCGATGCTATGCCACA 0.378000 36 22 6.19805e-25 7.59087e-25 1 1 0 UTRN 7402 broad.mit.edu 37 6 144835885 144835885 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr6:144835885C>A ENST00000367545.3 + 36 5173 c.5173C>A c.(5173-5175)Ctt>Att p.L1725I NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1725 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAGCAGGGAGCTTGTAGAACC 0.428000 59 39 6.3091e-27 7.81468e-27 1 1 0 MNT 4335 broad.mit.edu 37 17 2298352 2298352 + Missense_Mutation SNP A A G TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr17:2298352A>G ENST00000174618.4 - 2 875 c.470T>C c.(469-471)aTt>aCt p.I157T NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 157 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) ATTGGGTGGAATGGTGGCCTT 0.692000 4 4 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49438185 49438185 + Splice_Site SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr12:49438185C>T ENST00000301067.7 - 20 5083 c.e20+1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CAGGACCTCACCAGGCCGATA 0.587000 OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 35 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77669828 77669828 + Missense_Mutation SNP T T A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:77669828T>A ENST00000534064.1 - 7 795 c.761A>T c.(760-762)cAg>cTg p.Q254L INTS4_ENST00000529807.1_Missense_Mutation_p.Q254L NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 254 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CCAGATAAGCTGGACTGCAGC 0.473000 4 6 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70980858 70980858 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr12:70980858C>A ENST00000334414.6 - 9 2284 c.2240G>T c.(2239-2241)cGa>cTa p.R747L PTPRB_ENST00000550857.1_Missense_Mutation_p.R439L|PTPRB_ENST00000538708.1_Missense_Mutation_p.R529L|PTPRB_ENST00000261266.5_Missense_Mutation_p.R529L|PTPRB_ENST00000550358.1_Missense_Mutation_p.R747L|PTPRB_ENST00000451516.2_Missense_Mutation_p.R439L|PTPRB_ENST00000551525.1_Missense_Mutation_p.R746L|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 529 Fibronectin type-III 9. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATGTATTTTCGTCCAGGCAC 0.373000 123 66 2.53974e-74 3.25684e-74 1 1 0 MMP11 4320 broad.mit.edu 37 22 24122901 24122901 + Splice_Site SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr22:24122901G>A ENST00000215743.3 + 4 667 c.616_splice c.e4+1 p.Q205_splice MMP11_ENST00000477567.1_3'UTR NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 205 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) GGGATGACCAGGGTATGGGCT 0.582000 9 18 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412543 154412543 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr6:154412543G>A ENST00000414028.2 + 3 1150 c.1100G>A c.(1099-1101)cGa>cAa p.R367Q OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.R367Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 367 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding p.R367L(2)|p.R460L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AACTCCACTCGAATTCGTCAG 0.443000 21 22 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75552435 75552435 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr10:75552435C>A ENST00000604729.1 + 10 2435 c.2138C>A c.(2137-2139)cCc>cAc p.P713H ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P713H|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.P713H|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P713H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P680H zinc finger, SWIM-type containing 8 AATGGGCTTCCCAAAACCAAA 0.597000 19 21 1.15919e-05 1.23874e-05 1 1 0 USF1 7391 broad.mit.edu 37 1 161012652 161012652 + Translation_Start_Site SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:161012652G>A ENST00000435396.1 - 0 223 USF1_ENST00000368020.1_Missense_Mutation_p.T10M|USF1_ENST00000368019.1_Missense_Mutation_p.T10M|USF1_ENST00000368021.3_Missense_Mutation_p.T10M NM_207005.1 NP_996888.1 P22415 USF1_HUMAN upstream transcription factor 1 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCCCTCTTCCGTTTCAGCTGT 0.493000 20 108 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54626011 54626011 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr15:54626011C>T ENST00000545554.1 + 15 4541 c.4541C>T c.(4540-4542)tCa>tTa p.S1514L UNC13C_ENST00000260323.11_Missense_Mutation_p.S1514L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1512L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1514 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GACCTGAAATCAACTGTTGAC 0.363000 12 7 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313275 54313275 + Silent SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr19:54313275G>A ENST00000324134.6 - 3 1806 c.1638C>T c.(1636-1638)acC>acT p.T546T NLRP12_ENST00000391775.3_Silent_p.T546T|NLRP12_ENST00000391772.1_Silent_p.T546T|NLRP12_ENST00000391773.1_Silent_p.T546T|NLRP12_ENST00000535162.1_Silent_p.T546T|NLRP12_ENST00000354278.3_Silent_p.T546T|NLRP12_ENST00000345770.5_Silent_p.T546T|NLRP12_ENST00000351894.4_Silent_p.T546T NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 546 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) ACGCGTACTCGGTCAACAGCC 0.567000 29 83 0 0 1 0 0 RHOT2 89941 broad.mit.edu 37 16 721934 721934 + Silent SNP C C G TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr16:721934C>G ENST00000315082.4 + 13 1143 c.1029C>G c.(1027-1029)ccC>ccG p.P343P NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 343 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) CCTGGGGCCCCGAGCTCCCAC 0.682000 41 64 0 0 1 0 0 PRPF38B 55119 broad.mit.edu 37 1 109241984 109241984 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:109241984G>A ENST00000370021.1 + 7 1287 c.650G>A c.(649-651)aGg>aAg p.R217K PRPF38B_ENST00000370025.4_Missense_Mutation_p.R328K Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 328 mRNA processing|RNA splicing spliceosomal complex NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) TTAGAACGCAGGCGCAGCAGA 0.498000 6 95 0 0 1 0 0 ENTPD4 9583 broad.mit.edu 37 8 23243467 23243467 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr8:23243467G>A ENST00000356206.6 - 13 1925 c.1690C>T c.(1690-1692)Cac>Tac p.H564Y LOXL2_ENST00000389131.3_Intron Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 0 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) cattgcaagtgtttggtggcc 0.448000 10 55 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020253 156020253 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:156020253C>T ENST00000368309.3 - 4 662 c.570G>A c.(568-570)atG>atA p.M190I UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 190 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) CAGGATTGGACATCAGCTGCC 0.577000 33 61 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25395956 25395956 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr4:25395956C>A ENST00000315368.3 + 12 1043 c.901C>A c.(901-903)Caa>Aaa p.Q301K ANAPC4_ENST00000510092.1_Missense_Mutation_p.Q301K NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 301 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) CACATCAGTGCAAGATGAGTT 0.294000 21 18 1.42536e-11 1.63541e-11 1 1 0 MUC2 4583 broad.mit.edu 37 11 1094728 1094728 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:1094728C>T ENST00000441003.2 + 31 5843 c.5816C>T c.(5815-5817)aCg>aTg p.T1939M MUC2_ENST00000333592.6_Missense_Mutation_p.T227M|MUC2_ENST00000361558.6_Missense_Mutation_p.T77M NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1970 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACTGTGCAGACGACCACCACC 0.637000 14 38 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67631109 67631109 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:67631109C>T ENST00000272342.5 + 5 1425 c.1295C>T c.(1294-1296)aCa>aTa p.T432I ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 432 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 AGAGCAAATACAAGTCCAGAT 0.328000 15 42 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36507075 36507075 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr19:36507075C>T ENST00000360535.4 - 14 1856 c.1629G>A c.(1627-1629)gcG>gcA p.A543A CLIP3_ENST00000593074.1_Silent_p.A543A|AC002116.7_ENST00000586962.1_RNA NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 543 GoLD. chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACTGCATCTCCGCCCTCAGCA 0.592000 6 21 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112690230 112690230 + Missense_Mutation SNP G G C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr12:112690230G>C ENST00000550722.1 - 23 3507 c.3112C>G c.(3112-3114)Cag>Gag p.Q1038E HECTD4_ENST00000377560.5_Missense_Mutation_p.Q1012E|HECTD4_ENST00000430131.2_Missense_Mutation_p.Q762E NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCAAGTACCTGAGCGCGAACT 0.458000 37 29 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34080543 34080543 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr15:34080543C>T ENST00000389232.4 + 67 9784 c.9714C>T c.(9712-9714)gcC>gcT p.A3238A RYR3_ENST00000415757.3_Silent_p.A3238A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3238 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGTTGAAAGCCGATGGCAAAG 0.567000 8 109 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4080459 4080459 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr17:4080459C>T ENST00000341657.4 - 19 2772 c.2737G>A c.(2737-2739)Gct>Act p.A913T CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A914T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A955T NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 913 A -> V (in Ref. 1; BAA90300). endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GCTTGGACAGCGAGGTGCAGG 0.438000 6 85 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2714952 2714952 + Splice_Site SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr12:2714952G>A ENST00000399655.1 + 24 3421 c.3156_splice c.e24+1 p.K1052_splice CACNA1C_ENST00000399591.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399617.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000335762.5_Splice_Site_p.K1077_splice|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399641.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000327702.7_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399621.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399629.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399595.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000344100.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399634.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399601.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000347598.4_Splice_Site_p.K1072_splice|CACNA1C_ENST00000399637.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399606.1_Splice_Site_p.K1072_splice|CACNA1C_ENST00000402845.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000480911.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399597.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399649.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000406454.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399644.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399603.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399638.1_Splice_Site_p.K1052_splice NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1072 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGCTCTTCAAGGTAAAGTCTG 0.542000 48 47 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24784885 24784885 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:24784885C>A ENST00000396789.4 + 2 1753 c.28C>A c.(28-30)Ccc>Acc p.P10T LTB4R_ENST00000345363.3_Missense_Mutation_p.P10T|LTB4R_ENST00000396782.2_Missense_Mutation_p.P10T NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 10 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) TGCAGCACCCCCCTCACTAGG 0.582000 16 117 4.75885e-15 5.6382e-15 1 1 0 D2HGDH 728294 broad.mit.edu 37 2 242689679 242689679 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:242689679C>T ENST00000321264.4 + 7 1176 c.967C>T c.(967-969)Cgc>Tgc p.R323C D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R189C NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 323 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GCTGGTCGGGCGCCATCTCCA 0.622000 10 42 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17470205 17470205 + Missense_Mutation SNP T T C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:17470205T>C ENST00000302539.4 - 8 1315 c.1190A>G c.(1189-1191)aAt>aGt p.N397S ABCC8_ENST00000389817.3_Missense_Mutation_p.N397S NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 397 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CATAATTTTATTGTAAATCTT 0.458000 28 56 0 0 1 0 0 DNPEP 23549 broad.mit.edu 37 2 220251440 220251440 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:220251440G>A ENST00000273075.4 - 4 500 c.280C>T c.(280-282)Cct>Tct p.P94S DNPEP_ENST00000373972.1_Missense_Mutation_p.P19S|DNPEP_ENST00000523282.1_Missense_Mutation_p.P102S NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 84 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) CCATTGCCAGGAACGTACTGG 0.587000 3 2 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65239534 65239534 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:65239534C>T ENST00000389722.3 - 25 5370 c.5317G>A c.(5317-5319)Gac>Aac p.D1773N SPTB_ENST00000556626.1_Missense_Mutation_p.D1773N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1773N|SPTB_ENST00000542895.1_Missense_Mutation_p.D1773N|SPTB_ENST00000389721.5_Missense_Mutation_p.D1773N NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1773 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTCAGCCCGTCCTTCCACTCG 0.642000 25 50 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65268905 65268905 + RNA SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:65268905G>A ENST00000534336.1 + 0 3673 NR_002819.2 TGGAGAAATGGCTGGTAGTTA 0.403000 6 16 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161047418 161047418 + Silent SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr1:161047418C>A ENST00000368012.3 - 3 857 c.555G>T c.(553-555)acG>acT p.T185T NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 185 Ig-like C2-type 1. T -> M (in EDSS1). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTTTGACCTCCGTGTCCCAGG 0.637000 29 34 4.87955e-14 5.71905e-14 1 1 0 SDK1 221935 broad.mit.edu 37 7 4153034 4153034 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr7:4153034G>A ENST00000404826.2 + 24 3687 c.3548G>A c.(3547-3549)cGt>cAt p.R1183H SDK1_ENST00000389531.3_Missense_Mutation_p.R1183H NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1183 Fibronectin type-III 6. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTCACGGTCCGTACTGCCAGT 0.652000 5 172 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6243788 6243788 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:6243788G>A ENST00000265978.4 - 6 1433 c.1075C>T c.(1075-1077)Cgg>Tgg p.R359W FAM160A2_ENST00000449352.2_Missense_Mutation_p.R359W|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R359W NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 359 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GAGATACTCCGTAGGAAAAGT 0.527000 15 36 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762570 53762570 + Missense_Mutation SNP C C G TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr19:53762570C>G ENST00000341702.3 + 1 1026 c.942C>G c.(940-942)atC>atG p.I314M VN1R2_ENST00000598458.1_3'UTR NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 314 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) ACAGAGCCATCCAAAGCATCC 0.468000 23 116 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345218 20345218 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:20345218C>A ENST00000298642.2 + 1 828 c.792C>A c.(790-792)agC>agA p.S264R NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CACTAAGCAGCTTTCTCACAG 0.403000 24 183 7.92952e-12 9.19487e-12 1 1 0 TOX2 84969 broad.mit.edu 37 20 42694468 42694468 + Silent SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr20:42694468G>A ENST00000358131.5 + 6 1231 c.1023G>A c.(1021-1023)tcG>tcA p.S341S TOX2_ENST00000435864.2_Silent_p.S237S|TOX2_ENST00000423191.1_Silent_p.S317S|TOX2_ENST00000372999.1_Silent_p.S317S|TOX2_ENST00000341197.3_Silent_p.S359S NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGACGCCGTCGGACCTGCAGG 0.682000 30 85 0 0 1 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95108141 95108141 + RNA SNP T T C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:95108141T>C ENST00000469935.1 + 0 746 NR_015340.1 CATTGACGAATATACAGAGCA 0.612000 46 77 0 0 1 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131665 142131665 + RNA SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr7:142131665C>A ENST00000390375.2 - 0 130 TCGTTTTGATCAGGTGTGTGG 0.572000 23 48 2.79863e-10 3.11276e-10 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113299438 113299438 + Silent SNP G G T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr8:113299438G>T ENST00000297405.5 - 58 9430 c.9186C>A c.(9184-9186)ccC>ccA p.P3062P CSMD3_ENST00000352409.3_Silent_p.P2992P|CSMD3_ENST00000455883.2_Silent_p.P2893P|CSMD3_ENST00000343508.3_Silent_p.P3022P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3062 Sushi 22. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCCATGGCCGGGAGTACCTG 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 108 0.00307968 0.00310819 1 1 0 CCNA1 8900 broad.mit.edu 37 13 37011903 37011903 + Silent SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr13:37011903G>A ENST00000418263.1 + 3 782 c.432G>A c.(430-432)ggG>ggA p.G144G CCNA1_ENST00000255465.4_Silent_p.G145G|CCNA1_ENST00000440264.1_Silent_p.G101G|CCNA1_ENST00000449823.1_Silent_p.G101G NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 145 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TAGAGCAGGGGGACAGAGACA 0.542000 54 28 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62577965 62577965 + Missense_Mutation SNP T T C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr8:62577965T>C ENST00000389204.4 - 6 608 c.523A>G c.(523-525)Agt>Ggt p.S175G ASPH_ENST00000541428.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.S160G|ASPH_ENST00000517903.1_Intron NM_020164.4 NP_064549.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 391 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) gttttagcacttttttctagg 0.378000 15 27 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95910816 95910816 + Silent SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:95910816C>T ENST00000553340.1 - 9 1796 c.1782G>A c.(1780-1782)agG>agA p.R594R SYNE3_ENST00000334258.5_Intron|SYNE3_ENST00000557275.1_Intron|SYNE3_ENST00000554873.1_Intron spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CTCACAGACCCCTCACCTGCA 0.602000 14 25 0 0 1 0 0 CDRT15 146822 broad.mit.edu 37 17 14140021 14140021 + Missense_Mutation SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr17:14140021G>A ENST00000420162.2 - 1 145 c.130C>T c.(130-132)Cgc>Tgc p.R44C CDRT15_ENST00000431716.2_Missense_Mutation_p.A19V NM_001007530.1 NP_001007531.1 Q96T59 CDRTF_HUMAN CMT1A duplicated region transcript 15 44 endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 6 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) ACCTGGATGCGCCTTATTACA 0.607000 15 14 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60097285 60097285 + Translation_Start_Site SNP G G A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr14:60097285G>A ENST00000342503.4 - 0 247 RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_De_novo_Start_OutOfFrame|RTN1_ENST00000267484.5_Intron NM_206852.2 NP_996734.1 Q16799 RTN1_HUMAN reticulon 1 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCACTCAAGCGTTGGTGCCCG 0.721000 31 59 0 0 1 0 0 CHEK1 1111 broad.mit.edu 37 11 125514440 125514440 + Nonsense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:125514440C>T ENST00000534070.1 + 11 1390 c.1135C>T c.(1135-1137)Cga>Tga p.R379* CHEK1_ENST00000524737.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000544373.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000427383.2_Nonsense_Mutation_p.R395*|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.R379*|CHEK1_ENST00000278916.3_Intron|CHEK1_ENST00000438015.1_Nonsense_Mutation_p.R379* NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 379 cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) AAGAATGACACGATTCTTTAC 0.373000 Other conserved DNA damage response genes 6 51 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136570264 136570264 + Missense_Mutation SNP G G C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:136570264G>C ENST00000264162.2 - 7 1980 c.1970C>G c.(1969-1971)tCc>tGc p.S657C NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 657 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CACAGGATGGGAGCACTGTCT 0.562000 12 53 0 0 1 0 0 SLC25A46 91137 broad.mit.edu 37 5 110096948 110096948 + Missense_Mutation SNP A A C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr5:110096948A>C ENST00000355943.3 + 8 849 c.723A>C c.(721-723)aaA>aaC p.K241N SLC25A46_ENST00000509432.1_Missense_Mutation_p.K28N|SLC25A46_ENST00000513807.1_Missense_Mutation_p.K79N|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K150N|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Missense_Mutation_p.K95N|SLC25A46_ENST00000447245.2_Intron NM_138773.1 NP_620128.1 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 241 transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) AGTGTGTTAAAGAAGGAATTG 0.383000 56 46 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102049774 102049774 + Missense_Mutation SNP C C T TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr10:102049774C>T ENST00000318222.3 - 14 2630 c.2248G>A c.(2248-2250)Gtg>Atg p.V750M PKD2L1_ENST00000338519.3_Missense_Mutation_p.V675M|PKD2L1_ENST00000353274.3_Missense_Mutation_p.V750M NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 750 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CCACTCACCACGCCTGGGGAG 0.547000 23 52 0 0 1 0 0 H3F3AP4 440926 broad.mit.edu 37 2 175585095 175585095 + RNA DEL T T - rs112662182 TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr2:175585095delT ENST00000442996.1 + 0 217 AAAAAAAAAATTTCTCTTCTT 0.373 3 3 --- --- --- --- MIR9-2 407047 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 3 4 --- --- --- --- LAMC3 10319 broad.mit.edu 37 9 133884921 133884921 + Frame_Shift_Del DEL C C - TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr9:133884921delC ENST00000361069.4 + 1 453 c.320delC c.(319-321)tcfs p.S107fs LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 107 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CAGAGCCCGTCCATGGCCTTC 0.701 2 4 --- --- --- --- GAS2 2620 broad.mit.edu 37 11 22770774 22770774 + Frame_Shift_Del DEL A A - TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:22770774delA ENST00000454584.2 + 6 887 c.582delA c.(580-582)ggfs p.G194fs GAS2_ENST00000278187.3_Frame_Shift_Del_p.G194fs|GAS2_ENST00000433790.1_Frame_Shift_Del_p.G194fs NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 194 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 AGTCTTCTGGAAAAAAGAGTA 0.398 17 51 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61544274 61544274 + Frame_Shift_Del DEL G G - TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr11:61544274delG ENST00000278836.5 + 11 1611 c.1515delG c.(1513-1515)gtfs p.V506fs MYRF_ENST00000327797.1_Frame_Shift_Del_p.V131fs|MYRF_ENST00000265460.5_Frame_Shift_Del_p.V497fs|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor TCATGCTGGTGGTGGCCCTCC 0.632 OREG0021012 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- WSB2 55884 broad.mit.edu 37 12 118473017 118473018 + Splice_Site INS - - C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr12:118473017_118473018insC ENST00000315436.3 - 7 1086 c.e7+1 WSB2_ENST00000535496.1_Splice_Site|WSB2_ENST00000542304.1_Splice_Site|WSB2_ENST00000441406.2_Splice_Site|WSB2_ENST00000544233.1_Splice_Site NM_001278557.1|NM_018639.3 NP_001265486.1|NP_061109.1 Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 intracellular signal transduction breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTCTTCGTTACCTGTCATCTG 0.520 OREG0022175 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 37 --- --- --- --- MMP25 64386 broad.mit.edu 37 16 3107600 3107603 + Frame_Shift_Del DEL CTTT CTTT - TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr16:3107600_3107603delCTTT ENST00000336577.4 + 7 1229_1232 c.992_995delCTTT c.(991-996)acfs p.TF331fs RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 331 Hemopexin-like 1. inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 CGAGGGGAAACTTTCTTCTTCAAA 0.539 13 103 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577095 7577096 + Frame_Shift_Ins INS - - TCTC TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr17:7577095_7577096insTCTC ENST00000420246.2 - 8 974_975 c.842_843insGAGA c.(841-843)gcgfs p.A281fs TP53_ENST00000269305.4_Frame_Shift_Ins_p.A281fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.A281fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A281fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A281fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 281 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.D281E(28)|p.R282W(10)|p.D281G(10)|p.0?(8)|p.D281V(5)|p.D281D(5)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.D281_R282delDR(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) CTGTGCGCCGGTCTCTCCCAGG 0.554 111 """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) 14 18 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61388270 61388271 + RNA DEL AC AC - TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0757d8b6-f579-41b6-93d6-24cb4436f796 f33f6ac0-5400-4807-ad48-f50070b3347d g.chr18:61388270_61388271delAC ENST00000544088.1 + 0 836 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTGCATGTTAACACACACACAC 0.386 2 4 --- --- --- ---